| Dwarfs in ancient Egypt |
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| A novel <i>MSH2</i> germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years |
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| <i>HRAS</i> mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild‐type allele in malignancy |
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| Recent milestones in achondroplasia research |
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| Complexity in genetic diseases: How patients inform the science by ignoring the dogma |
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| A tribute to our teacher, Dr. Judith Hall: A child with the trait of the Earl of Shrewsbury |
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| Illustration of genetic syndromes in the nursery |
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| Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations |
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| Cystic adenomatoid malformation of the lung: Review of genetics, prenatal diagnosis, and in utero treatment |
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| Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene |
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| Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes |
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| Meckel on developmental pathology |
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| Trisomy 16p: A longitudinal profile and photo essay |
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| Fetal alcohol spectrum disorders in Finland: Clinical delineation of 77 older children and adolescents |
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Finnish |
| Bosma arhinia microphthalmia syndrome |
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| Festschrift reflection |
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| Triplication of 8p22–8p23 in a patient with features similar to Kabuki syndrome |
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| Introduction to Judith Hall Festschrift |
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| Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis |
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| Mitochondrial mutation in a child with distal arthrogryposis |
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| Novel splicing mutation in the <i>NEMO</i> (<i>IKK‐gamma</i>) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation |
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| Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo‐telomere formation in stabilizing the deleted chromosome |
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| Origin of the prevalent <i>SFTPB</i> indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP‐B) deficiency |
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✓ |
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Western‐European chromosomes; ancestors from a region of Northwestern Europe populated by Frankish/S |
| A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies |
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| Investigation of confined placental mosaicism (CPM) at multiple sites in post‐delivery placentas derived through intracytoplasmic sperm injection (ICSI) |
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| Adverse reproductive outcomes among pregnancies of aunts and (spouses of) uncles in Irish families with neural tube defects |
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Irish |
| Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome |
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| A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies |
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| Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC |
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| Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium‐sensing receptor |
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| Patau syndrome with a long survival (146 months): A clinical report and review of literature |
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| Molecular pathology of Shprintzen–Goldberg syndrome |
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| Nevo syndrome with an <i>NSD1</i> deletion: A variant of Sotos syndrome? |
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Japanese |
| Isolated 6q terminal deletions: An emerging new syndrome |
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| <i>HRAS</i> mutation analysis in Costello syndrome: Genotype and phenotype correlation |
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✓ |
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✓ |
European (total 40) patients; Japanese, Italian, North American |
| A male baboon <i>(Papio hamadryas</i>) with a mosaic 43,XXY/42,XY karyotype |
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| An intelligent person's guide to genetics. By Adrian Woolfson. London, Duckworth Overlook, 2004. 240 p. |
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| Unusual cerebrotendinous xanthomatosis with fronto‐temporal dementia phenotype |
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| A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome |
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| An Xq22.3 duplication detected by comparative genomic hybridization microarray (<i>Array‐CGH</i>) defines a new locus (<i>FGS5</i>) for FG syndrome |
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| Array‐based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements |
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| Co‐existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome‐like symptoms |
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| Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human α‐<scp>L</scp>‐iduronidase (laronidase, Aldurazyme) |
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| Iridic and retinal coloboma associated with prenatal methimazole exposure |
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| Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family |
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| Distal arthrogryposis type 2A may be associated with juvenile glaucoma |
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| Reply to letter to the editor by Lowry et al.: An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study [Issekutz et al., 2005] |
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| Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in <i>MSH6</i> |
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| Promotor genotype of the platelet‐derived growth factor receptor‐α gene shows population stratification but not association with spina bifida meningomyelocele |
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✓ |
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European Caucasian descent |
| Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies |
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| Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome |
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| <i>CRELD1</i> and <i>GATA4</i> gene analysis in patients with nonsyndromic atrioventricular canal defects |
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| Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplication |
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| Epidemiology of hemimegalencephaly: A case series and review |
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| Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients |
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| Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype |
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| Myhre syndrome in a female with previously undescribed symptoms: Further delineation of the phenotype |
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| RE: An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study [Issekutz et al., 2005] |
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| Perlman syndrome: Clinical report and nine‐year follow‐up |
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| A paternally derived inverted duplication of distal 14q with a terminal 14q deletion |
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| Report of a third family with Oliver syndrome |
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| Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: Unusual manifestations of Menkes disease |
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| Wilms tumor in an 11‐year‐old with hemihyperplasia |
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| Mos 46,XX,r(18).ish r(18)(18ptel−,18qtel−)/46,XX.ish del(18)(18ptel−): An example for successive ring chromosome formation |
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| Response to Kosaki et al. “Molecular pathology of Shprintzen–Goldberg syndrome” |
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| Costello syndrome and hyperinsulinemic hypoglycemia |
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| No detectable genomic aberrations by BAC array CGH in Kabuki make‐up syndrome patients |
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| A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome |
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| Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH |
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| Sequence variations in <i>AGTR2</i> are unlikely to be associated with X‐linked mental retardation |
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| Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells? |
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| A novel <i>DFNA9</i> mutation in the vWFA2 domain of <i>COCH</i> alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site‐specific ves |
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| Turner syndrome: Four challenges across the lifespan |
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| Case reports of oculofaciocardiodental syndrome with unusual dental findings (Am J Med Genet 136A: 275–277, 2005) |
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| Analysis of the planar cell polarity gene <i>Vangl2</i> and its co‐expressed paralog <i>Vangl1</i> in neural tube defect patients (Am J Med Genet 136A: 90–92, 2005) |
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| Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128–135, 2005) |
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| <i>Parkin</i> mutation analysis in clinic patients with early‐onset Parkinson's disease (Am J Med Genet 129A: 44–50, 2004) |
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| Connexin 26 variants and auditory neuropathy/dys‐synchrony among children in schools for the deaf |
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| Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity |
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| Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis? |
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| Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in <i>CDMP1</i> gene |
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✓ |
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✓ |
✓ |
Polish family |
| A 72‐year‐old Danish puzzle resolved—comparative analysis of phenotypes in families with different‐sized <i>HOXD13</i> polyalanine expansions |
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| Hypertrichosis in patients with <i>SURF1</i> mutations |
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| A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother |
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| Founder SVA retrotransposal insertion in Fukuyama‐type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations |
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| Severe infantile Marfan syndrome versus neonatal Marfan syndrome |
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| Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array‐based comparative genomic hybridization |
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| Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34): Deletion/duplication of 7q33‐34 and clinical correlations |
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| Correct usage of “loss of imprinting” |
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| Kallmann syndrome in a 47,XXX patient |
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| A novel mutation in the <i>MSX2</i> gene in a family with foramina parietalia permagna (FPP) |
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| Letter to the editor: Novel <i>GJA1</i> mutation in oculodentodigital dysplasia |
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| Cleidocranial dysplasia: Molecular genetic analysis and phenotypic‐based description of a Middle European patient group |
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✓ |
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Middle European |
| Sensorineural hearing loss in children and adults with Williams syndrome |
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| Familial gigantism caused by an <i>NSD1</i> mutation |
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| Medial temporal lobe dysgenesis in hypochondroplasia |
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| A novel 17 bp deletion in the <i>PHOX2B</i> gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine |
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| Homozygosity for a gross partial gene deletion of the C‐terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations |
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| Histopathology and fibrillin‐1 distribution in severe early onset Marfan syndrome |
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| Response to Fukuzawa et al. correspondence “Correct Usage of Loss Imprinting” |
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| New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation |
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| Genetic heterogeneity of deafness phenotypes linked to DFNA4 |
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| Asplenia in ATR‐X syndrome: A second report |
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| Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1) |
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| XK‐aprosencephaly and related entities |
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| Clinical features of 78 adults with 22q11 deletion syndrome |
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| Interstitial deletion of chromosome 12q: Genotype–phenotype correlation of two patients utilizing array comparative genomic hybridization |
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| A new and a reclassified ICF patient without mutations in <i>DNMT3B</i> and its interacting proteins SUMO‐1 and UBC9 (Am J Med Genet 136A: 31–37, 2005) |
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| Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm |
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| A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family |
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✓ |
✓ |
Moslem Arabic family; Arabic family |
| XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family |
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✓ |
✓ |
Sicilian |
| Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation |
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| A new locus for nonsyndromic deafness <i>DFNB51</i> maps to chromosome 11p13‐p12 |
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| Precision and error of three‐dimensional phenotypic measures acquired from 3dMD photogrammetric images |
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| Partial trisomy 4q and preaxial limb defects |
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| Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls |
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| Transitory hypogammaglobulinemia of infancy in FG syndrome |
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| Detection of low level sex chromosome mosaicism in Ullrich–Turner syndrome patients |
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| On being a medical geneticist |
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| Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20 |
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| Prenatal magnetic resonance imaging in Gomez‐Lopez‐Hernandez syndrome and review of the literature |
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✓ |
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| Genome‐wide SNP arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population |
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✓ |
✓ |
Old Order Mennonite; Mennonite population; reference to Finland (common cause in Finland) |
| Facial and physical features of Aicardi syndrome: Infants to teenagers |
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| A case of C3 deficiency with a novel homozygous two‐base deletion in the <i>C3</i> gene |
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| Pharmacogenetics of psychotropic drugs. By Bernard Lerer, editor. Cambridge University Press, Cambridge, New York, Port Melbourne, Madrid, Capetown, 2002 |
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| Optic atrophy and sensorineural hearing loss in a family caused by an R445H <i>OPA1</i> mutation |
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| Delineation of the clinical phenotype associated with <i>OPHN1</i> mutations based on the clinical and neuropsychological evaluation of three families |
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| Clinical and molecular studies on two further families with Simpson‐Golabi‐Behmel syndrome |
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| Chromosome 11‐q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population |
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✓ |
✓ |
French Canadian population |
| Ring chromosome 9 [r(9)(p24q34)]: A report of two cases |
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| A male with two idic(Y)(q12) chromosomes: A distinct phenotype resembling the XXXY/XXXXY syndrome |
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| Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas |
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| Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features |
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✓ |
✓ |
Japanese |
| FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures |
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| Klippel‐Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? |
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| Vessels' morphology in <i>SMAD4</i> and <i>BMPR1A</i>‐related juvenile polyposis |
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| Adults with VATER association: Long‐term prognosis |
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| Triploid mosaicism in a 45,X/69,XXY infant |
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| Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications |
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| X‐linked adrenoleukodystrophy with partial deletion of <i>ALD</i> due to fusion with the neighbor gene, <i>PLXNB3</i> |
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| Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction) |
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| Molecular study of <i>WISP3</i> in nine families originating from the Middle‐East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of |
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✓ |
✓ |
Middle‐East; Lebanon; Syria; Palestinian Bedouin descent |
| Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA<sup>Ser(UCN)</sup> genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside‐induced and nonsyndromic hearing l |
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✓ |
✓ |
Chinese |
| Stickler syndrome: Clinical characteristics and diagnostic criteria |
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| The Cyclopes in Odysseus' <i>Apologos</i> |
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| <i>SOX2</i> mutation causes anophthalmia, hearing loss, and brain anomalies |
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| Screening for new <i>MTHFR</i> polymorphisms and NTD risk |
|
✓ |
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✓ |
✓ |
Irish; ethnically homogeneous Irish; African-American; American-Caucasian; Irish population |
| Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for long QT syndrome |
|
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| Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2) |
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| No evidence for triallelic inheritance ofMKKS/BBS loci in Amish Mckusick-Kaufman syndrome |
|
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| Acro‐dermato‐ungual‐lacrimal‐tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar‐mammary syndrome and a new mutation in <i>TP63</i> |
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| A family with X‐linked anophthalmia: Exclusion of <i>SOX3</i> as a candidate gene |
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| Auriculo‐condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds |
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| DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother |
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| Detection of an unexpected subtelomeric 15q26.2 → qter deletion in a little girl: Clinical and cytogenetic studies |
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| Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations |
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| Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome |
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| Mosaicism of proximal 15q duplication/deletion resulting in Prader–Willi syndrome with normal methylation |
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| Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X |
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| Bifurcation of the femur with tibial agenesis and additional anomalies |
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| Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome |
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| Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes |
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| Germline mosaicism of a novel <i>UBE3A</i> mutation in Angelman syndrome |
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| Missense mutations in <i>N</i>‐acetylglucosamine‐1‐phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype |
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| Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)? |
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| Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany |
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| Demonstration of two novelLAMB2 mutations in the original Pierson syndrome family reported 42 years ago |
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| Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol |
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| Variation in IRF6 contributes to nonsyndromic cleft lip and palate |
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| Chromosome 1q42 deletion and agenesis of the corpus callosum |
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| A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13‐q21 |
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| A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia |
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| Identification and study of Utah pseudo‐isolate populations—prospects for gene identification |
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✓ |
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dating back to its European founders |
| A novel missense mutation in a C2 domain ofOTOF results in autosomal recessive auditory neuropathy |
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| Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia |
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| A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria |
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| X‐chromosome inactivation and telomere size in newborns resulting from intracytoplasmic sperm injection |
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| Juvenile onset Huntington disease resulting from a very large maternal expansion |
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| The natural history of severe anemia in cartilage-hair hypoplasia |
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| Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain |
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| Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program |
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| Novel amino acid substitution in the Y‐position of collagen type II causes spondyloepimetaphyseal dysplasia congenita |
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✓ |
✓ |
Polish population |
| An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: Report of a second patient with Nguyen syndrome |
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| Schmid type of metaphyseal chondrodysplasia and <i>COL10A1</i> mutations—findings in 10 patients |
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| A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome |
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| Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family |
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| Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation |
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| Meier‐Gorlin (ear‐patella‐short stature) syndrome: Growth hormone deficiency and previously unrecognized findings |
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| Book review |
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| Familial visceral neuropathy: A defined entity? |
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| High prevalence of the <i>W24X</i> mutation in the gene encoding connexin‐26 (<i>GJB2</i>) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing loss |
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✓ |
✓ |
Spanish Romani (gypsies); gypsies; ethnic groups; Spanish regions (Andalusia and Catalonia) |
| Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence |
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| Analysis ofRPS19 in patients with cartilage-hair hypoplasia and severe anemia: Preliminary results |
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| Is there an increased birth defect risk to children born to offspring of first cousin parents? |
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| Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20 |
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| Book review |
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| Brachydactylic multiple delta phalanges plus syndrome |
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| The outcome of diagnostic studies on the etiology of mental retardation: Considerations on the classification of the causes |
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| Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X) |
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| Book review |
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| Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome? |
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| Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities |
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| Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome |
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| Mutation analysis of the <i>HDAC 1</i>, <i>2</i>, <i>8</i> and <i>CDKL5</i> genes in Rett syndrome patients without mutations in <i>MECP2</i> |
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| Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay |
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| Geneticists' views on science policy formation and public outreach |
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| Patient with a non‐mosaic isodicentric Yp and mild developmental delay |
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| A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage |
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| Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrang |
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| Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait |
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| Schizencephaly: Heterogeneous etiologies in a population of 4 million California births |
|
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| Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases |
|
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| Characterization of a familial balanced rec(13) in a child with mild MR and his half‐sibling with two structurally rearranged chromosomes 13 |
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| Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar–mammary syndrome |
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| Reply to letter to the editor by Crow: “Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects” |
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| Male‐to‐male transmission in Laurin–Sandrow syndrome and exclusion of <i>RARB</i> and <i>RARG</i> |
|
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| Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries |
|
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|
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| Analysis of <i>NF1</i> transcriptional regulatory elements |
|
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| Book Review |
|
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| Revertant mosaicism and retrotransposons: Another explanation of “natural gene therapy” |
|
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| The <i>GJB2</i> mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness |
|
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| Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome |
|
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| Book review |
|
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| Molecular and phenotypic characterization of ring chromosome 22 |
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| Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia |
|
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| A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy |
|
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| Craniosynostosis and ectopia lentis in a propositus whose parents are cousins (Am J Med Genet (Early View)) |
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| Inappropriate tall stature and renal ectopy in a male patient with X‐linked congenital adrenal hypoplasia due to a novel missense mutation in the <i>DAX‐1</i> gene |
|
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| Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (<i>Am J Med Genet</i> 85: 5– |
|
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| Factors related to the development of communication in CHARGE syndrome (Am J Med Genet 133A:282–290) |
|
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| Interstitial deletion in 3q in a patient with blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the |
|
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| Unilateral radio‐ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism |
|
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| Should chromosome breakage studies be performed in patients with VACTERL association? |
|
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|
✓ |
|
|
European genotype–phenotype correlation study for FA |
| Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array‐based comparative genomic hybridization in a patient with mental retardation and dysmorphic |
|
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| Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate |
|
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| Inheritance pattern of Beckwith–Wiedemann syndrome is heterogeneous in 291 families with an affected proband |
|
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| Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study |
|
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| Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989–1997 |
|
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| Growth hormone benefits children with 18q deletions |
|
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| Microdeletion in the <i>SHOX</i> 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri–Weill dyschondrosteosis in her 46,XX mother: Implicatio |
|
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|
|
✓ |
✓ |
Japanese |
| Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome |
|
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| Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype |
|
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| Pallister-Hall syndrome: Unreported skeletal features of a<i>GLI3</i>mutation |
|
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| Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and |
|
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| Initial cancer genetic counseling consultation: Change in counselees' cognitions and anxiety, and association with addressing their needs and preferences |
|
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| Multiple aneuploidy recurrence |
|
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| Sigmoid diverticulitis in patients with Williams–Beuren syndrome: Relatively high prevalence and high complication rate in young adults with the syndrome |
|
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| Long term follow‐up of developmental delay in a child with prenatally‐diagnosed trisomy 20 mosaicism |
|
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| Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient |
|
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| Exclusion of <i>WNT4</i> as a major gene in Rokitansky‐Küster‐Hauser anomaly |
|
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| A report of three patients with an interstitial deletion of chromosome 15q24 |
|
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| Structural central nervous system (CNS) anomalies in Kabuki syndrome |
|
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| Fine mapping of autosomal dominant nonsyndromic hearing impairment <i>DFNA21</i> to chromosome 6p24.1‐22.3 |
|
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| 22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes |
|
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| Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.] |
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| Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability |
|
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| Re: Polymicrogyria versus pachygyria in 22q11 microdeletion |
|
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| Craniosynostosis: Another feature of the 22q11.2 deletion syndrome |
|
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| Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3) |
|
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| Speech-language characteristics of children with Sotos syndrome |
|
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| X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
|
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| 550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A—clinically misdiagnosed cases |
|
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|
| Editorial: Perspectives on craniosynostosis |
|
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| Sex-specific chromosome instability in early human development |
|
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| Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis |
|
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| Arachnoidal cyst, orofacial dysplasia, poor motor control, and severe language delay |
|
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| Another case of Varadi-Papp Syndrome with a molar tooth sign |
|
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| Genetics and women in science |
|
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| Book review |
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| Book review |
|
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|
|
| Behavioral aspects of Angelman syndrome: A case control study (Am J Med Genet 132A: 8–12) |
|
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| AGG interspersion patterns in the CGG repeat of the <i>FMR1</i> gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations |
|
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| Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype |
|
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| Pachygyria and polymicrogyria in 22q11 deletion syndrome |
|
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| Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004) |
|
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|
|
| Hypothelia, syndactyly, and ear malformation—A variant of the scalp–ear–nipple syndrome?: Case report and review of the literature (<i>Am J Med Genet</i> 134A: 220–222 (2005)) |
|
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| <i>AJMG</i> reviewers 2004 |
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| A retrospective family study of childhood medulloblastoma (Am J Med Genet 134A(4): 399–403) |
|
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|
| Midline raphé, sternal cleft, and other midline abnormalities: A new dominant syndrome? (Am J Med Genet 135A:9–12) |
|
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| Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects |
|
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| A newly recognized syndrome of cutis aplasia, lipomatous footpads, microcephaly, hypotelorism, and, variably, single maxillary central incisor, and holoprosencephaly |
|
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| van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures |
|
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| Trichomegaly in two sisters with synophrys in the older sibling |
|
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| Case reports of oculofaciocardiodental syndrome with unusual dental findings |
|
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| Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype |
|
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|
|
| Three cases with de novo 6q imbalance and variable prenatal phenotype |
|
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|
| Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated |
|
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| Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness |
|
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|
|
| G59S mutation in theGJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome |
|
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|
| A new and a reclassified ICF patient without mutations in <i>DNMT3B</i> and its interacting proteins SUMO‐1 and UBC9 |
|
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|
| Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency |
|
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|
|
✓ |
✓ |
Arab |
| Analysis of the planar cell polarity gene <i>Vangl2</i> and its co‐expressed paralogue <i>Vangl1</i> in neural tube defect patients |
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| Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome |
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| DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients |
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| The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case |
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| Characterization of six marker chromosomes by comparative genomic hybridization |
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| Is Dandy-Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations |
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| Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient |
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| New case of contiguous gene syndrome at chromosome 8p11.2p12 |
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| Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening |
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✓ |
|
Jewish |
| Variations of theCFTR gene in the Hanoi-Vietnamese |
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| CDG‐IL: An infant with a novel mutation in the<i>ALG9</i>gene and additional phenotypic features |
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| Dentatorubral‐pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent |
|
✓ |
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✓ |
✓ |
Macedonian descent / Macedonian origin |
| Seven letters to the editor reporting new findings in patients with holoprosencephaly |
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| SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor |
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| Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novelSHH mutation |
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| Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: New case and imaging review of previous cases |
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| CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly |
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| Central nervous system malformations in oral‐facial‐digital syndrome, type 1 |
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| Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia |
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| Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: A further support to the vascular hypothesis |
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| Mutation in the von Willebrand factor-A domain is not a prerequisite for theMATN3 mutation in multiple epiphyseal dysplasia |
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| Single median maxillary central incisor, hypophyseal tumor, andSHH mutation |
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| Prenatal diagnosis of FRA10A: A case report and literature review |
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| Prenatal death in Smith-Lemli-Opitz/RSH syndrome |
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| Human Genome Epidemiology: A scientific foundation for using genetic information to improve health and prevent disease |
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| Development of an audit tool for genetic services |
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| Minor malformations characteristic of the retinoic acid embryopathy and other birth outcomes in children of women exposed to topical tretinoin during early pregnancy |
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| Intrachromosomal triplication for the distal part of chromosome 15q |
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| The adult phenotype in Costello syndrome |
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| Reported multivitamin consumption and the occurrence of multiple congenital anomalies |
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| Malformations of the axial skeleton in the museum Vrolik: II: Craniosynostoses and suture-related conditions |
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| A new observation of acro‐cardio‐facial syndrome substantiates interindividual clinical variability |
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| Folate‐related genes and omphalocele |
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| Hyperthrophic cardiomyopathy and the <i>PTPN11</i> gene |
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| Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3‐pter |
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| Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment |
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| Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia |
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| Identification of an alternative 5′‐untranslated exon and new polymorphisms of angiotensin‐converting enzyme 2 gene: Lack of association with SARS in the Vietnamese population |
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| Application of a comprehensive protocol for the identification of Gaucher disease in Brazil |
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| Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with <i>17p11.2</i> rearrangements |
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| A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation |
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| Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes <i>EN2</i> and <i>ZIC1</i> |
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| Generalized arterial calcification of infancy: Different clinical courses in two affected siblings |
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| Risks for severe mental retardation occurring in isolation and with other developmental disabilities |
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|
✓ |
✓ |
Blacks; Asians |
| Update: PGD and Holt‐Oram syndrome |
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| Hair whorls and handedness: Informative phenotypic markers in nonsyndromic cleft lip with or without cleft palate (NS CL/P) cases and their unaffected relatives |
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| Mosaicism for an <i>FMR1</i> gene deletion in a fragile X female |
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| Prenatal diagnosis of chromosome 4 mosaicism: Prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization |
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| Maladaptive behaviors and risk factors among the genetic subtypes of Prader–Willi syndrome |
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| Terminal deletion of 6p results in a recognizable phenotype |
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| <i>PTPN11</i> mutations play a minor role in isolated congenital heart disease |
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| Investigation of <i>UBE3A</i> and <i>MECP2</i> in Angelman syndrome (AS) and patients with features of AS (Am J Med Genet 125A: 167–172) |
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| Xq chromosome duplication in males: Clinical, cytogenetic and array CGH characterization of a new case and review |
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| Reply to “Statin Drugs and Congenital Anomalies” by Gibb and Scialli |
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| Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities |
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| Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts |
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| Reply to Ruiter et al.: A possible example of acrofacial dysostosis type Kennedy–Teebi |
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| Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia |
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| Distinguishing Pacman dysplasia from mucolipidosis II: Comment on Saul et al. [2005] |
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| Genetic regulation of osteoarthritis: A QTL regulating cranial and caudal acetabular osteophyte formation in the hip joint of the dog (<i>Canis familiaris</i>) |
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| Mayer–Rokitansky–Küster–Hauser anomaly and its associated malformations |
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| The external ear: More attention to detail may aid syndrome diagnosis and contribute answers to embryological questions |
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| Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of <i>HOXD13</i> |
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| Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis |
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| Autosomal dominant inheritance of spondyloenchondrodysplasia |
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| OEIS complex with del(3)(q12.2q13.2) |
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| <i>EMX2</i>‐independent familial schizencephaly: Clinical and genetic analyses |
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|
✓ |
✓ |
Turkish |
| Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome |
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| Are the betaine‐homocysteine methyltransferase (<i>BHMT</i> and <i>BHMT2</i>) genes risk factors for spina bifida and orofacial clefts? |
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| Polymicrogyria versus pachygyria in 22q11 microdeletion |
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| Novel mutation in <i>DGUOK</i> in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria |
|
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|
✓ |
✓ |
old colony Mennonite families |
| No evidence of paternal transmission of fragile X syndrome |
|
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| Response to letter: “No evidence of paternal transmission of fragile X syndrome” by Doris and Peter Steinbach |
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| Essential versus complex autism: Definition of fundamental prognostic subtypes |
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| Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome |
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| Immune abnormalities are a frequent manifestation of Kabuki syndrome |
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| Omphalocele, advanced maternal age, and fetal morbidity outcomes |
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| Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl |
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| Cockayne syndrome: The developing phenotype |
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| Tel Hashomer camptodactyly syndrome: 12‐year follow‐up of a Hungarian patient and review |
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|
✓ |
✓ |
Hungarian |
| Reply to correspondence to the editor by de Wit et al.—“Re: Polymicrogyria versus pachygyria in 22q11 deletion” |
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| Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location |
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| Maternal uniparental disomy 14 in a 15‐year‐old boy with normal karyotype and no evidence of precocious puberty |
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| Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis |
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|
✓ |
✓ |
mainly German individuals |
| Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia |
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|
|
| A new <i>DAX1</i> gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism |
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| Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti |
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|
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| Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: A recognizable syndrome |
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| Living with a hereditary disease: Persons with muscular dystrophy and their next of kin |
|
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|
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| Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome |
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|
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| FXTAS, SCA10, and SCA17 in American patients with movement disorders |
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| Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds |
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|
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| Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil |
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| Another case of interstitial del(12) involving the proposed cardio‐facio‐cutaneous candidate region |
|
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| Long‐term follow‐up in a patient with metatropic dysplasia |
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| Floating‐Harbor syndrome complicated by tethered cord: A new association and potential contribution from growth hormone therapy |
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| Gonadoblastoma in Turner syndrome and Y‐chromosome‐derived material |
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|
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| Syndromes and Epistemology I: Autistic spectrum disorders |
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|
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| Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability |
|
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|
|
| Schimke‐immuno‐osseous dysplasia: New mutation with weak genotype–phenotype correlation in siblings |
|
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|
|
| Studies of reduced folate carrier 1 (<i>RFC1</i>) A80G and 5,10‐methylenetetrahydrofolate reductase (<i>MTHFR</i>) C677T polymorphisms with neural tube and orofacial cleft defects |
|
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|
|
| Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome |
|
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| Oncogenomics: Molecular approaches to cancer edited by Charles and David Duggan. Wiley‐Liss, Hoboken, NJ, 2004. |
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|
|
| Hypoparathyroidism–retardation–dysmorphism (HRD) syndrome in triplets |
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|
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| Novel autosomal recessive progressive hyperpigmentation syndrome |
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✓ |
✓ |
Iraqui origin |
| Other tumors in Sotos syndrome |
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|
|
| Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile |
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| Sex and congenital malformations: An international perspective |
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| Adams–Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism? |
|
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|
|
| Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non‐carriers |
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|
|
| <i>GJB2</i> (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population |
|
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|
|
✓ |
✓ |
Indonesian population; other populations |
| Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of “mosaic chimerism” |
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|
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| Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome |
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|
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| Autopsy findings of a 37‐year‐old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20 |
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|
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| Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity |
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| Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of <i>GPA</i> genotype |
|
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|
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|
|
| Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype |
|
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|
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| Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy–Teebi |
|
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| Book review |
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| Theodore Francis Thurmon III, M.D. (October 20, 1937–January 3, 2005) |
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| Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome |
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|
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| Subtelomere deletions and translocations are frequently familial |
|
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|
| A novel <i>MGP</i> mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome |
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|
✓ |
✓ |
Arab |
| Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility |
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|
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| An unusual reciprocal translocation detected by subtelomeric FISH: Interstitial and not terminal |
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|
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| Phenotypes with <i>GATA4</i> or <i>NKX2.5</i> mutations in familial atrial septal defect |
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| Statin drugs and congenital anomalies |
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| Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs |
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|
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| Craniofacial defects of blastogenesis: Duplication of pituitary with cleft palate and orophgaryngeal tumors |
|
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|
|
| Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome |
|
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|
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| Midline raphé, sternal cleft, and other midline abnormalities: A new dominant syndrome? |
|
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|
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| Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel <i>FGD1</i> gene mutation (R408Q) |
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|
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| Familial recurrence rates and genetic models of multiple sclerosis |
|
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| <i>SOX2</i> anophthalmia syndrome |
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|
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| Autosomal dominant microtia and ocular coloboma: New syndrome or an extension of the oculo‐auriculo‐vertebral spectrum? |
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|
|
| Mental retardation in a boy with anterior cervical hypertrichosis |
|
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|
|
| Inappropriate tall stature and renal ectopy in a male patient with X‐linked congenital adrenal hypoplasia due to a novel missense mutation in the <i>DAX‐1</i> gene |
|
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|
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| Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy |
|
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| Fryns syndrome with osteochondrodysplasia |
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| Functional disomy of Xp: Prenatal findings and postnatal outcome |
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| Tenascin‐X deficiency in autosomal recessive Ehlers–Danlos syndrome |
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| A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome |
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| Malpuech syndrome: Three patients and a review |
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| Somatic and gonadal mosaicism in Hutchinson–Gilford progeria |
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| Acrofacial dysostosis type Rodríguez |
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| Barth syndrome: <i>TAZ</i> gene mutations, mRNAs, and evolution |
|
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| Cardiovascular genetics clinics |
|
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| Renpenning syndrome comes into focus |
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| Significance of bifid epiglottis |
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| Holoprosencephaly and limb reduction defects: A consideration of Steinfeld syndrome and related conditions |
|
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|
|
| Response to the letter to “MTHTR 677C‐T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women” |
|
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|
|
| Prevalence of nonsyndromic oral clefts in Texas: 1995–1999 |
|
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|
|
| Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography |
|
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| Early development of occipital horns in a classical Menkes patient (Am J Med Genet 130A: 211–213) |
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| Congenital diaphragmatic hernia in WAGR syndrome |
|
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| A provisionally unique syndrome of macrosomia, bone overgrowth, macrocephaly, and tall stature |
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| Skewed X‐inactivation in carriers establishes linkage in an X‐linked deafness‐mental retardation syndrome (Am J Med Genet 131A: 209–212) |
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| Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins |
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| Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3 |
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✓ |
✓ |
Pakistani; Turkish; distinct ethnic backgrounds |
| RE: ?Risk calculations: Still essential in the molecular age,? AJMG 129A:215?217 |
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| Response to Devriendt et al. ?Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality? |
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| Double trisomy (Am J Med Genet 124A: 96?98) |
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| The 22q11.2 deletion in African‐American patients: An underdiagnosed population? |
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✓ |
✓ |
African‐American |
| Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: A case report and review of the literature |
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| Gastric juvenile polyposis associated with germline SMAD4 mutation |
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| Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23) |
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| Differentiating campomelic dysplasia from Cumming syndrome |
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| Retrospective family study of childhood medulloblastoma |
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| Mutational analysis of the<i>TCOF1</i>gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis |
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| Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27‐28 for preaxial defects |
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| Reconstructing the behaviors of extinct species: An excursion into comparative paleoneurology |
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| Down syndrome and comorbid autism‐spectrum disorder: Characterization using the aberrant behavior checklist |
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| Mutation analysis of the <i>NSD1</i> gene in a group of 59 patients with congenital overgrowth |
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✓ |
✓ |
Japanese, nonJapanese |
| Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37 |
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| Elevated fibroblast growth factor‐23 in hypophosphatemic linear nevus sebaceous syndrome |
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| Addressing the “petty tyranny” of IRBs |
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| Bilateral preaxial polydactyly in a WAGR syndrome patient |
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| Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation |
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| Duplication of chromosome 4q: Renal pathology of two siblings |
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| Baller?Gerold syndrome after fetal exposure to sodium valproate |
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| Place of preimplantation diagnosis in genetic practice |
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| Malformations of the axial skeleton in <i>Museum Vrolik</i> I: Homeotic transformations and numerical anomalies |
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| Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: Possible variants of Gollop‐Wolfgang complex |
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| An interstitial deletion of chromosome 7 at band q21: A case report and review |
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| A QF-PCR system to detect chromosome 13 aneuploidy from as few as ten cells |
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| Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in offspring |
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| Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63 |
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| Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects |
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| Myhre's syndrome in a girl with normal intelligence |
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| Amish brittle hair syndrome gene maps to 7p14.1 |
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| Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort |
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| Is multicenter collaborative research in clinical genetics dead and, if so, what killed it? |
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| Use of targeted array‐based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? |
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| Mosaic tetrasomy 14pter‐q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q |
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| New findings in craniofacial dyssynostosis |
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| Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190] |
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| Response to: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies by Dr. Judith Hall |
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| Four novel <i>NIPBL</i> mutations in Japanese patients with Cornelia de Lange syndrome |
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✓ |
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Japanese |
| <i>SOX2</i> anophthalmia syndrome |
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| Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo <i>NOGGIN</i> mutation |
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| Hypothelia, syndactyly, and ear malformation?a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature |
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| Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation |
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| Autosomal dominant inheritance of left ventricular outflow tract obstruction |
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| High incidence of malformation syndromes in a series of 1,073 children with cancer |
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| Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature |
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| Factors associated with preterm delivery in mothers of children with Beckwith-Wiedemann syndrome: A case cohort study from the BWS registry |
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| Craniosynostosis and ectopia lentis in a propositus whose parents are cousins |
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| Equal proportion of adult male and female homozygous for the 677C ? T mutation in the methylenetetrahydrofolate reductase polymorphism |
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| Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman |
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| Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes |
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| Prenatal diagnosis of trisomy 1q21-qter: Case report and review of literature |
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| Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3) |
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| Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher?Schinzel (3C) syndrome |
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| Accuracy and precision in Bayesian analysis |
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| Sex and congenital malformations: An international perspective |
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| Identification of a novel mutation in theL-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome |
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| Evidence based medicine in inborn errors of metabolism: Is there any and how to find it |
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| Sudden infant death syndrome not caused by Norwegian Jervell and Lange‐Nielsen mutations |
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| Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35) |
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| Frequency of incidental intracranial aneurysms in neurofibromatosis type 1 |
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| Characterization of the symptoms associated with dural ectasia in the Marfan patient |
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| Scoliosis in CHARGE: A prospective survey and two case reports |
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| Deletion of both <i>MTM1</i> and <i>MTMR1</i> genes in a boy with myotubular myopathy |
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| Chromosome 18 aberrations and epilepsy: A review |
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| Genetic counseling for<i>BRCA1</i>/<i>2</i>: A randomized controlled trial of two strategies to facilitate the education and counseling process |
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| A kindred withMYH-associated polyposis and pilomatricomas |
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| Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies |
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| <i>GC79</i>/<i>TRPS1</i> and tumorigenesis in humans |
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| Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease |
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| Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) |
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| Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia |
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| Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability |
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| Interstitial deletion 8q11.2‐q13 with congenital anomalies of CHARGE association |
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| Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian epidemiological data |
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| Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome |
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| Cerebellar hypoplasia?endosteal sclerosis: A long term follow-up |
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| Book review |
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| Repetitive behaviors in CHARGE syndrome: Differential diagnosis and treatment options |
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| CHARGE syndrome: Developmental and behavioral data |
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| Psychological benefit of diagnostic certainty for mothers of children with disabilities: Lessons from Down syndrome |
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| Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome |
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| Trisomy 15q25.2‐qter in an autistic child: Genotype–phenotype correlations |
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| Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form of <i>CFTR</i> dysfunction |
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| DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism |
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| Craniofacial features in osteogenesis imperfecta: A cephalometric study |
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| Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype |
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| Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1‐13q32.3 |
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| Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA) |
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| Supernumerary ring chromosome 20 in a mother and her child |
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| CHARGE syndrome “behaviors”: Challenges or adaptations? |
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| Updated diagnostic criteria for CHARGE syndrome: A proposal |
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| A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis |
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| Familial neurocardiogenic (vasovagal) syncope |
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| <i>GJB2</i> mutations: Passage through Iran |
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✓ |
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mirrors the south‐to‐north European gradient; supports a founder effect in southeastern Europe |
| A chicken consultation with ramifications |
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| 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia |
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| Monozygotic twins concordant for Crouzon syndrome |
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| Valproate embryopathy: Clinical and cognitive profile in 5 siblings |
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| Factors related to the development of communication in CHARGE syndrome |
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| Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1 |
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| Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2 |
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| A novel mutation in theDIA1 gene in a patient with methemoglobinemia type II |
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| New type of twin spot |
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| Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis |
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| Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation |
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| LIT1 andH19 methylation defects in isolated hemihyperplasia |
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| Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome |
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| Novelc-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation |
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| A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype |
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| Behavioral features of CHARGE syndrome: Parents' perspectives of three children with CHARGE syndrome |
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| Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the<i>BBS4</i>Gene |
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| Maternal inheritance in cyclic vomiting syndrome |
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| ZFPM2/FOG2 andHEY2 genes analysis in nonsyndromic tricuspid atresia |
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| Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies |
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| Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation |
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| Mutations inPOMT1 are found in a minority of patients with Walker-Warburg syndrome |
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| Large deletion involving the 5?-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia |
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| Autistic‐like behavior in CHARGE syndrome |
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| An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene |
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| A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly |
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| Mapping of hereditary trichilemmal cyst<i>(TRICY1)</i>to chromosome 3p24-p21.2 and exclusion of β-<i>CATENIN</i>and<i>MLH1</i> |
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| Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31 |
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| Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene |
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| Subtelomeric rearrangements as neutral genomic polymorphisms |
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| A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation |
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| Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome |
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| Behavior in CHARGE syndrome: Introduction to the special topic |
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| Behavioral features of CHARGE syndrome (Hall–Hittner syndrome) comparison with Down syndrome, Prader–Willi syndrome, and Williams syndrome |
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| Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: Implications for prenatal screening and genetic counseling |
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| An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study |
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| Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study |
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| Prevalence of theFMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype |
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| Can specific deficits in executive functioning explain the behavioral characteristics of CHARGE syndrome: A case study |
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| Speculations on the pathogenesis of CHARGE syndrome |
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| Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy |
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| Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl |
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| Scott Rogers on dinosaur behavior, in: The Annals of Morphology |
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| CHARGE syndrome from birth to adulthood: An individual reported on from 0 to 33 years |
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| Book review |
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| Some twin spots may not be twins |
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| α-thalassemia/mental retardation syndrome in a 45,X male |
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| De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3) |
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| A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype |
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| A splicing mutation in the ?/? GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy |
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| A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3 |
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| Adaptive behavior in children with CHARGE syndrome |
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| Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation |
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| Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 ? q21.3 with substantial loss of 1q12 heterochromatin in |
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| Joubert syndrome is not a cause of classical autism |
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| Williams–Beuren syndrome and West “syndrome:” Causal association or contiguous gene deletion syndrome? |
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| Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations |
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| Three patients with terminal deletions within the subtelomeric region of chromosome 9q |
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| Further case report of a child with a 9q34 deletion and a review of the reported cases |
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| <i>GJB2</i> mutations in keratitis‐ichthyosis‐deafness syndrome including its fatal form |
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| CHARGE association in Sweden: Malformations and functional deficits |
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| Anomalies of the kidney and urinary tract are common in de Lange syndrome |
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| Critique of ?sibpair studies implicate chromosome 18 in essential hypertension? by S. Rutherford, M.P. Johnson, and L.R. Griffiths.Am J Med Genet 126A:241-247 (2004) |
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| A new autosomal recessive oto-facial syndrome with midline malformations |
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| Double-layered patella in multiple epiphyseal dysplasia is not exclusive toDTDST mutation |
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| Truncus arteriosus and isochromosome 8q |
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| CHARGE syndrome: 2005 |
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| Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature |
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| Mosaic trisomy 4: Long-term outcome on the first reported liveborn |
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| MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae |
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| Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation |
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| Neonatal toxicity and transient neurodevelopmental deficits following prenatal exposure to lithium: Another clinical report and a review of the literature |
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| Marinesco–Sjögren syndrome in a male with mild dysmorphism |
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| Idiopathic talipes equinovarus (ITEV) (clubfeet) in Texas |
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| NKX2.5 and congenital heart defects: A population-based study |
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| BRCA1/2 testing in hereditary breast and ovarian cancer families II: Impact on relationships |
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| Critique of ?sibpair studies implicate chromosome 18 in essential hypertension? by S. Rutherford, M.P. Johnson, and L.R. Griffiths. 2004. Am J Med Genet 126A:241-247 |
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| 14q32.3 deletion syndrome with autism |
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| Preimplantation diagnosis for homeobox gene<i>HLXB9</i>mutation causing Currarino syndrome |
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| A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for ?ring chromosome 2 syndrome? |
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| The genetics of tethered cord syndrome |
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| Bindewald syndrome: Tetralogy of Fallot, large ears, severe growth and mental retardation |
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| Genetics of tethered cord ?syndrome?: The FG syndrome |
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