| Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3 |
|
|
|
|
|
|
|
|
|
| Further delineation of Kabuki syndrome in 48 well‐defined new individuals |
|
|
|
|
|
|
|
|
|
| Two novel mutations in <i>SLC6A8</i> cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families |
|
|
|
|
|
|
✓ |
✓ |
Dutch |
| Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature—is sonic hedgehog the common pathway? |
|
|
|
|
|
|
|
|
|
| Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III |
|
|
|
|
|
|
|
|
|
| Neonatal phenotype in Kabuki syndrome |
|
|
|
|
|
|
|
|
|
| Autosomal recessive non‐immune hydrops fetalis caused by systemic lymphangiectasia |
|
|
|
|
|
|
|
|
|
| Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases |
|
|
|
|
|
|
|
|
|
| Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without clef palate cases |
|
|
|
|
|
|
✓ |
✓ |
Italian population |
| Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes |
|
|
|
|
|
|
|
|
|
| Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome |
|
|
|
|
|
|
|
|
|
| Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes |
|
|
|
|
|
|
|
|
|
| Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the <i>RAI1</i> gene |
|
|
|
|
|
|
|
|
|
| Pulmonary atresia/ventricular septal defect associated with facial port‐wine stain and retinal vascular abnormality: A new constellation or deletion in chromosome 22q11.2? |
|
|
|
|
|
|
|
|
|
| <i>MTHFR</i> 677C‐T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women |
|
|
|
|
|
|
|
|
|
| Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome |
|
|
|
|
|
|
|
|
|
| Natural history of cardiac involvement in geleophysic dysplasia |
|
|
|
|
|
|
|
|
|
| Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management |
|
|
|
|
|
|
|
|
|
| The <i>PTPN11</i> gene is not implicated in nonsyndromic hypertrophic cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases |
|
|
|
|
|
|
|
|
|
| A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3 |
|
|
|
|
|
|
|
|
|
| A locus for Bowen–Conradi syndrome maps to chromosome region 12p13.3 |
|
|
|
|
|
|
✓ |
✓ |
Hutterite population; other populations |
| Iris heterochromia: A variable feature in Verloes–Koulischer‐oral‐acral syndrome |
|
|
|
|
|
|
|
|
|
| Reply to Unger: The mildest form of campomelic dysplasia |
|
|
|
|
|
|
|
|
|
| Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1 |
|
|
|
|
|
|
|
|
|
| Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement |
|
|
|
|
|
|
|
|
|
| Characterization of liver involvement in defects of cholesterol biosynthesis: Long‐term follow‐up and review |
|
|
|
|
|
|
|
|
|
| Velocardiofacial syndrome with single central incisor |
|
|
|
|
|
|
|
|
|
| Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH |
|
|
|
|
|
|
|
|
|
| Expressive language in children with Kabuki syndrome |
|
|
|
|
|
|
|
|
|
| Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype |
|
|
|
|
|
|
|
|
|
| Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients |
|
|
|
|
|
|
|
|
|
| Towards improved clinical characterization of Leber congenital amaurosis: Neurological and systemic findings |
|
|
|
|
|
|
|
|
|
| Severe, neonatal‐onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11) |
|
|
|
|
|
|
|
|
|
| Carbimazole embryopathy: An emerging phenotype |
|
|
|
|
|
|
|
|
|
| The mildest form of campomelic dysplasia |
|
|
|
|
|
|
|
|
|
| Association of anophthalmia and esophageal atresia: Four new cases identified by the anophthalmia/microphthalmia clinical registry |
|
|
|
|
|
|
|
|
|
| Molecular and cytogenetic characterization of a non‐mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome |
|
|
|
|
|
|
|
|
|
| Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia |
|
|
|
|
|
|
|
|
|
| Behavioral aspects of Angelman syndrome: A case control study |
|
|
|
|
|
|
|
|
|
| Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome—variable manifestations of a single disorder? |
|
|
|
|
|
|
|
|
|
| Rett syndrome in females with CTS hot spot deletions: A disorder profile |
|
|
|
|
|
|
|
|
|
| <i>MECP2</i> mutation analysis in patients with mental retardation |
|
|
|
|
|
|
|
|
|
| Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio‐ulnar synostosis |
|
|
|
|
|
|
|
|
|
| Unique survival in chrondrodysplasia‐hermaphrodism syndrome |
|
|
|
|
|
|
|
|
|
| Hand involvement in Schmid metaphyseal chondrodysplasia |
|
|
|
|
|
|
|
|
|
| The real earliest historical evidence of Down syndrome |
|
|
|
|
|
|
|
|
|
| Clericuzio type poikiloderma with neutropenia is distinct from Rothmund–Thomson syndrome |
|
|
|
|
|
|
|
|
|
| Changing profile of couples seeking genetic counseling for consanguinity in Australia |
|
|
|
|
|
|
✓ |
✓ |
Asian origin; Western countries; Western Europe; ethnic origin; ethnic profiles |
| Insights from genomic microarrays into structural chromosome rearrangements |
|
|
|
|
|
|
|
|
|
| A novel syndrome resembling Desbuquois dysplasia |
|
|
|
|
|
|
|
|
|
| COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED) |
|
|
|
|
|
|
|
|
|
| Mild phenotypes in a series of patients with Opitz GBBB syndrome with <i>MID1</i> mutations |
|
|
|
|
|
|
|
|
|
| A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome? |
|
|
|
|
|
|
|
|
|
| Craniofacial dyssynostosis: Description of the first four Spanish cases and review |
|
|
|
|
|
|
✓ |
✓ |
Spanish; Spanish ancestors; Spanish population; Spanish ancestry |
| Familial hyper‐ and hypopigmentation with age‐related pattern change |
|
|
|
|
|
|
|
|
|
| Mapping nonverbal IQ in young boys with fragile X syndrome |
|
|
|
|
|
|
|
|
|
| Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis |
|
|
|
|
|
|
|
|
|
| A disorder resembling pseudoachondroplasia but without COMP mutation |
|
|
|
|
|
|
|
|
|
| AGG interspersion patterns in the CGG repeat of the <i>FMR1</i> gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations |
|
|
|
|
|
|
|
|
|
| Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24‐q26.31 with minimal overlap to the dup(3q) critical region |
|
|
|
|
|
|
|
|
|
| A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia |
|
|
|
|
|
|
|
|
|
| Recurrent adjacent‐2 segregation of a familial t(14;21)(q11.2;q11.2): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14) |
|
|
|
|
|
|
|
|
|
| Fetal presentation of PHACES syndrome |
|
|
|
|
|
|
|
|
|
| Mosaic trisomy 22: Report of a patient with normal intelligence |
|
|
|
|
|
|
|
|
|
| Familial lipomyelomeningocele: A further report |
|
|
|
|
|
|
|
|
|
| Novel <i>COL9A3</i> mutation in a family with multiple epiphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| A 2‐bp deletion in the <i>GJA1</i> gene is associated with oculo‐dento‐digital dysplasia with palmoplantar keratoderma |
|
|
|
|
|
|
✓ |
✓ |
Dutch kindred |
| Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins |
|
|
|
|
|
|
|
|
|
| Further delineation of Frank–ter Haar syndrome |
|
|
|
|
|
|
✓ |
✓ |
Turkish descent |
| A dysmorphic boy with 4qter deletion and 4q32.3‐34.3 duplication: Clinical, cytogenetic, and molecular findings |
|
|
|
|
|
|
|
|
|
| Functional analysis of polymorphic variation within the promoter and 5′ untranslated region of the neurofibromatosis type 1 (<i>NF1</i>) gene |
|
|
|
|
|
|
|
|
|
| Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome |
|
|
|
|
|
|
|
|
|
| Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient |
|
|
|
|
|
|
|
|
|
| Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients |
|
|
|
|
|
|
|
|
|
| Autosomal dominant flat umbilicus |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Three new families with arterial tortuosity syndrome |
|
|
|
|
|
|
✓ |
✓ |
Moroccan |
| Symposium introduction |
|
|
|
|
|
|
|
|
|
| Autoimmune disorders in Kabuki syndrome |
|
|
|
|
|
|
|
|
|
| Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: A preliminary study |
|
|
|
|
|
|
|
|
|
| Developmental outcome in Kabuki syndrome |
|
|
|
|
|
|
|
|
|
| Genotype–phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (<i>ATP7B</i>) |
|
|
|
|
|
|
|
|
|
| Craniofacial structure in Marfan syndrome: A cephalometric study |
|
|
|
|
|
|
|
|
|
| High prevalence of isolated pericardial effusion in Down syndrome |
|
|
|
|
|
|
|
|
|
| Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in <i>PLOD2</i> |
|
|
|
|
|
|
|
|
|
| Reevaluating confined placental mosaicism |
|
|
|
|
|
|
|
|
|
| Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency |
|
|
|
|
|
|
|
|
|
| Symptomatic Chiari I malformation in Kabuki syndrome |
|
|
|
|
|
|
|
|
|
| A novel frameshift mutation of <i>FOXC2</i> gene in a family with hereditary lymphedema‐distichiasis syndrome associated with renal disease and diabetes mellitus |
|
|
|
|
|
|
✓ |
✓ |
German–Irish family |
| Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation |
|
|
|
|
|
|
|
|
|
| Association of partial trisomy 9p and the Dandy‐Walker malformation |
|
|
|
|
|
|
|
|
|
| Unexpected death due to refractory metabolic acidosis and massive hemolysis in a young infant with Prader–Willi syndrome |
|
|
|
|
|
|
|
|
|
| KBG syndrome in a cohort of Italian patients |
|
|
|
|
|
|
✓ |
✓ |
Italian |
| Novel and recurrent exon 13 mutations of <i>COMP</i> in pseudoachondroplasia |
|
|
|
|
|
|
|
|
|
| Two sisters with Silver–Russell phenotype |
|
|
|
|
|
|
|
|
|
| A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy |
|
|
|
|
|
|
|
|
|
| Response to correspondence by Dr. Finsterer and Dr. Stöllberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction |
|
|
|
|
|
|
|
|
|
| Precision in phenotyping and genotyping |
|
|
|
|
|
|
|
|
|
| Fatal lymphoproliferative disorder in a child with Schimke immuno‐osseous dysplasia |
|
|
|
|
|
|
|
|
|
| Chromosome 22q11 deletion and pachygyria characterized by array‐based comparative genomic hybridization |
|
|
|
|
|
|
|
|
|
| A new three‐generational family with frontometaphyseal dysplasia, male‐to‐female transmission, and a previously reported<i>FLNA</i>mutation |
|
|
|
|
|
|
|
|
|
| Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes |
|
|
|
|
|
|
|
|
|
| Opitz “C” trigonocephaly‐like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q |
|
|
|
|
|
|
|
|
|
| Localization of MRX82: A new nonsyndromic X‐linked mental retardation locus to Xq24‐q25 in a Basque family |
|
|
|
|
|
|
✓ |
✓ |
Basque |
| De novo interstitial direct duplication of Xq21.1q25 associated with skewed X‐inactivation pattern |
|
|
|
|
|
|
|
|
|
| Multisystem study of 20 older adults with Williams syndrome |
|
|
|
|
|
|
|
|
|
| Mild phenotype in two unrelated patients with a partial deletion of 21q22.2‐q22.3 defined by FISH and molecular studies |
|
|
|
|
|
|
|
|
|
| Phenotypic manifestations of the OCTN2 V295X mutation: Sudden infant death and carnitine‐responsive cardiomyopathy in Roma families |
|
|
|
|
|
|
✓ |
✓ |
Hungarian Roma (Gypsy); Roma subpopulations |
| Mutational analysis of <i>BARHL1</i> and <i>BARX1</i> in three new patients with Joubert syndrome |
|
|
|
|
|
|
|
|
|
| Total is more than the sum of the parts: Phenotyping the heart in cardiovascular genetics clinics |
|
|
|
|
|
|
|
|
|
| Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia |
|
|
|
|
|
|
|
|
|
| Living with achondroplasia: Quality of life evaluation following cervico‐medullary decompression |
|
|
|
|
|
|
|
|
|
| Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism |
|
|
|
|
|
|
|
|
|
| Is SHORT syndrome another phenotypic variation of PITX2? |
|
|
|
|
|
|
|
|
|
| Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development |
|
|
|
|
|
|
|
|
|
| Intelligence in individuals with a neurofibromatosis type 1 microdeletion |
|
|
|
|
|
|
|
|
|
| Clinical report of congenital lymphatic malformations and partial gigantism of the hands associated with a heterogeneous karyotype |
|
|
|
|
|
|
|
|
|
| Re: Down syndrome and folic acid deficiency |
|
|
|
|
|
|
|
|
|
| Response to letter: Down syndrome and folic acid deficiency |
|
|
|
|
|
|
|
|
|
| Partial trisomy of chromosome 10(q22–q24) due to maternal insertional translocation (15;10) |
|
|
|
|
|
|
|
|
|
| Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum? |
|
|
|
|
|
|
|
|
|
| Ethical issues in identifying and recruiting participants for familial genetic research |
|
|
|
|
|
|
|
|
|
| Ganglioglioma in a Sotos syndrome patient with an <i>NSD1</i> deletion |
|
|
|
|
|
|
|
|
|
| Trisomy 21 is associated with variable defects in cytotrophoblast differentiation along the invasive pathway |
|
|
|
|
|
|
|
|
|
| Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals |
|
|
|
|
|
|
|
|
|
| Increased risk of symptomatic gallbladder disease in adults with Down syndrome |
|
|
|
|
|
|
|
|
|
| DUP25 remains unconfirmed |
|
|
|
|
|
|
|
|
|
| Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients |
|
|
|
|
|
|
|
|
|
| Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci |
|
|
|
|
|
|
|
|
|
| Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: A population‐based Swedish cohort study |
|
|
|
|
|
|
|
|
|
| Monozygotic twins discordant for frontonasal malformation |
|
|
|
|
|
|
|
|
|
| Anophthalmia–esophageal–genital syndrome: A further case to define the phenotype |
|
|
|
|
|
|
|
|
|
| A case of tangier disease with a novel mutation in the c‐terminal region of ATP‐binding cassette transporter A1 |
|
|
|
|
|
|
|
|
|
| Congenital heart defects associated with Smith–Magenis syndrome: Two cases of total anomalous pulmonary venous return |
|
|
|
|
|
|
|
|
|
| Clinical variability in KBG syndrome: Report of three unrelated families |
|
|
|
|
|
|
|
|
|
| Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21 |
|
|
|
|
|
|
|
|
|
| Proving pathogenicity: When evolution is not enough |
|
|
|
|
|
|
|
|
|
| No evidence of SALL4‐mutations in isolated sporadic duane retraction “syndrome” (DURS) |
|
|
|
|
|
|
|
|
|
| Multiple circumferential skin creases: Another sign of genetic mosaicism? |
|
|
|
|
|
|
|
|
|
| Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor |
|
|
|
|
|
|
|
|
|
| Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1) |
|
|
|
|
|
|
|
|
|
| A locus for posterior polymorphous corneal dystrophy (<i>PPCD3</i>) maps to chromosome 10 |
|
|
|
|
|
|
|
|
|
| Clinical variability in a Noonan syndrome family with a new <i>PTPN11</i> gene mutation |
|
|
|
|
|
|
|
|
|
| Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E<sub>1</sub>α subunit |
|
|
|
|
|
|
|
|
|
| Costello syndrome with pancreatic islet cell hyperplasia |
|
|
|
|
|
|
|
|
|
| Renal disease in Arima syndrome is nephronophthisis as in other Joubert‐related Cerebello–oculo–renal syndromes |
|
|
|
|
|
|
|
|
|
| Feeling at risk: How women interpret their familial breast cancer risk |
|
|
|
|
|
|
|
|
|
| A case of Adams–Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology? |
|
|
|
|
|
|
|
|
|
| UUGPGC program director job description |
|
|
|
|
|
|
|
|
|
| Corrections |
|
|
|
|
|
|
|
|
|
| Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: Evidence by microarray CGH |
|
|
|
|
|
|
|
|
|
| Unusual nasal duplication in two patients |
|
|
|
|
|
|
|
|
|
| Two novel and one recurrent <i>PTPN11</i> mutations in LEOPARD syndrome |
|
|
|
|
|
|
|
|
|
| A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype |
|
|
|
|
|
|
|
|
|
| Description of a case of distal 2p trisomy by array‐based comparative genomic hybridization: A high resolution genome‐wide investigation for chromosomal aneuploidy in a single assay |
|
|
|
|
|
|
|
|
|
| Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24‐q26 |
|
|
|
|
|
|
|
|
|
| Eyelid myxoma in Carney complex without <i>PRKAR1A</i> allelic loss |
|
|
|
|
|
|
|
|
|
| Bilateral anophthalmia and esophageal atresia: Report of a new patient and review of the literature |
|
|
|
|
|
|
|
|
|
| The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC) |
|
|
|
|
|
|
|
|
|
| Skewed X‐inactivation in carriers establishes linkage in an X‐linked deafness–mental retardation syndrome |
|
|
|
|
|
|
|
|
|
| Detection of an interstitial deletion of 2q21‐22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation |
|
|
|
|
|
|
|
|
|
| Classical West “syndrome” phenotype with a subtelomeric 4p trisomy |
|
|
|
|
|
|
|
|
|
| Women's satisfaction with genetic counseling for hereditary breast‐ovarian cancer: Psychological aspects |
|
|
|
|
|
|
|
|
|
| Middle and inner ear malformations in velocardiofacial syndrome |
|
|
|
|
|
|
|
|
|
| Mutations in <i>PITX2</i> may contribute to cases of omphalocele and VATER‐like syndromes |
|
|
|
|
|
|
|
|
|
| Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins |
|
|
|
|
|
|
|
|
|
| Dilated ascending aorta in a child with ring chromosome 21 syndrome |
|
|
|
|
|
|
|
|
|
| Blepharo–cheilo–dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes |
|
|
|
|
|
|
|
|
|
| Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia |
|
|
|
|
|
|
|
|
|
| Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome |
|
|
|
|
|
|
|
|
|
| A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia |
|
|
|
|
|
|
|
|
|
| Self‐healing congenital verruciform hyperkeratosis |
|
|
|
|
|
|
|
|
|
| Clearing up the confusion over the glutamate carboxypeptidase II gene |
|
|
|
|
|
|
|
|
|
| Two patients with monomelic ulnar duplication with mirror hand polydactyly: Segmental Laurin–Sandrow syndrome |
|
|
|
|
|
|
|
|
|
| Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister–Killian syndrome |
|
|
|
|
|
|
|
|
|
| A case of Kabuki (Niikawa‐Kuroki) syndrome associated with manifestations resembling C‐trigonocephaly syndrome |
|
|
|
|
|
|
|
|
|
| Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report |
|
|
|
|
|
|
|
|
|
| Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome |
|
|
|
|
|
|
|
|
|
| Mosaic ring 12p and total anomalous pulmonary venous return |
|
|
|
|
|
|
|
|
|
| In reply to: Proving pathogenicity—when evolution is not enough |
|
|
|
|
|
|
|
|
|
| A stop codon mutation in COL11A2 induces exon skipping and leads to non‐ocular Stickler syndrome |
|
|
|
|
|
|
|
|
|
| A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype |
|
|
|
|
|
|
✓ |
✓ |
Turkish |
| The first Finnish patient with the Floating‐Harbor syndrome: The follow‐up of eight years |
|
|
|
|
|
|
|
|
|
| Septo‐optic dysplasia with digital anomalies—a recurrent pattern syndrome |
|
|
|
|
|
|
|
|
|
| Cerebro–reno–digital (Meckel‐like) syndrome with limb malformations and acetabular spurs in two sibs: A new MCA syndrome? |
|
|
|
|
|
|
|
|
|
| Comments on “congenital Diaphragmatic Hernia: Is 15q26.1‐26.2 a candidate locus?” |
|
|
|
|
|
|
|
|
|
| Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease |
|
|
|
|
|
|
|
|
|
| 46,XY sex‐reversal (Swyer syndrome) and congenital diaphragmatic hernia |
|
|
|
|
|
|
|
|
|
| Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1‐5q31.3 in ten unbalanced carriers |
|
|
|
|
|
|
|
|
|
| A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for <i>UBE3A</i> |
|
|
|
|
|
|
|
|
|
| Mutation analysis of the tumor suppressor<i>PTEN</i>and the glypican 3 (<i>GPC3</i>) gene in patients diagnosed with Proteus syndrome |
|
|
|
|
|
|
|
|
|
| Diagnosis of Proteus syndrome was correct |
|
|
|
|
|
|
|
|
|
| Mutations in the EVC1 gene are not a common finding in the Ellis‐van Creveld and short rib‐polydactyly type III syndromes |
|
|
|
|
|
|
|
|
|
| The genetics of deafness |
|
|
|
|
|
|
|
|
|
| Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance |
|
|
|
|
|
|
✓ |
✓ |
Moroccan Jewish descent |
| Soft tissue facial areas and volumes in subjects with Down syndrome |
|
|
|
|
|
|
|
|
|
| “The Lion, the Witch and the Wardrobe”: Impact on sibs of individuals with AAT deficiency |
|
|
|
|
|
|
|
|
|
| Genetic significance of skewed X‐chromosome inactivation in premature ovarian failure |
|
|
|
|
|
|
|
|
|
| Association of <i>CYP17</i> with HLA‐B27‐negative seronegative spondyloarthropathy in Japanese males |
|
|
|
|
|
|
|
|
|
| Unmasking 15q12 deletion using microarray‐based comparative genomic hybridization in a mentally retarded boy with r(Y) |
|
|
|
|
|
|
|
|
|
| <i>BRCA1/2</i>testing in hereditary breast and ovarian cancer families: Effectiveness of problem‐solving training as a counseling intervention |
|
|
|
|
|
|
|
|
|
| Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13 |
|
|
|
|
|
|
|
|
|
| Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2) |
|
|
|
|
|
|
|
|
|
| Exploratory study of the feasibility and utility of the colored eco‐genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer |
|
|
|
|
|
|
|
|
|
| Do parents and grandparents of patients with achondroplasia have a higher cancer risk? |
|
|
|
|
|
|
|
|
|
| Nasal dimensions in normal subjects: Conventional anthropometry versus computerized anthropometry |
|
✓ |
|
|
|
✓ |
|
|
central European origin; European data |
| Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22 |
|
|
|
|
|
|
|
|
|
| Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome |
|
|
|
|
|
|
|
|
|
| Homozygous <i>SMN1</i> deletions in unaffected family members and modification of the phenotype by <i>SMN2</i> |
|
|
|
|
|
|
|
|
|
| Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India |
|
|
|
|
|
|
|
|
|
| Lay people's understanding of and preference against the word “mutation” |
|
|
|
|
|
|
|
|
|
| TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype |
|
|
|
|
|
|
|
|
|
| Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases |
|
|
|
|
|
|
|
|
|
| Memorial lecture—hereditary sensory defects: From genes to pathogenesis |
|
|
|
|
|
|
|
|
|
| 45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism |
|
|
|
|
|
|
|
|
|
| Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype |
|
|
|
|
|
|
|
|
|
| Reply to Kirk et al. |
|
|
|
|
|
|
|
|
|
| Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia |
|
|
|
|
|
|
✓ |
✓ |
Dutch |
| Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings |
|
|
|
|
|
|
|
|
|
| Pregnancy outcome following rubella vaccination: A prospective controlled study |
|
|
|
|
|
|
|
|
|
| Macrocephaly‐cutis marmorata telangiectatica congenita: Report of six new patients and a review |
|
|
|
|
|
|
|
|
|
| Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22 |
|
|
|
|
|
|
|
|
|
| Brachydactyly and short stature in a kindred with early‐onset parkinsonism |
|
|
|
|
|
|
✓ |
✓ |
Dutch kindred |
| Prevalence of Jews as subjects in genetic research: Figures, explanation, and potential implications |
|
|
|
|
|
|
✓ |
✓ |
Jews; Jewish; 'population isolates'; 'population groups'; 'communities'; 'endogamous' |
| A patient with Prader–Willi syndrome and a supernumerary marker chromosome r(15)(q11.1‐13p11.1)pat and maternal heterodisomy |
|
|
|
|
|
|
|
|
|
| Paternal uniparental disomy of chromosome 14: Confirmation of a clinically‐recognizable phenotype |
|
|
|
|
|
|
|
|
|
| Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT) |
|
|
|
|
|
|
✓ |
✓ |
Japanese population |
| Book Review |
|
|
|
|
|
|
|
|
|
| Book Review |
|
|
|
|
|
|
|
|
|
| Interaction of <i>RET</i> proto‐oncogene codon 609 germline mutations with RET haplotypes characterized by c.135G>A alleles modifying MEN 2A or HSCR phenotypes |
|
|
|
|
|
|
|
|
|
| ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation |
|
|
|
|
|
|
|
|
|
| Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13 |
|
|
|
|
|
|
|
|
|
| Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review |
|
|
|
|
|
|
|
|
|
| Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings |
|
|
|
|
|
|
|
|
|
| A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises |
|
|
|
|
|
|
|
|
|
| <i>CGI‐58/ABHD5</i> gene is mutated in Dorfman–Chanarin syndrome |
|
|
|
|
|
|
|
|
|
| Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95% of the activity in France |
|
|
|
|
|
|
|
|
|
| Early development of occipital horns in a classical Menkes patient |
|
|
|
|
|
|
|
|
|
| Craniofacial dyssynostosis: Case report and review |
|
|
|
|
|
|
|
|
|
| Fragile X syndrome phenotype with normal <i>FMR1</i> gene studies |
|
|
|
|
|
|
|
|
|
| Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome |
|
|
|
|
|
|
|
|
|
| Spondylometaphyseal dysplasia with cone‐rod dystrophy |
|
|
|
|
|
|
|
|
|
| Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome |
|
|
|
|
|
|
|
|
|
| “You have shown me my end”: Attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis |
|
|
|
|
|
|
|
|
|
| Donepezil effects on language in children with Down syndrome: Results of the first 22‐week pilot clinical trial |
|
|
|
|
|
|
|
|
|
| Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors |
|
|
|
|
|
|
|
|
|
| Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype |
|
|
|
|
|
|
|
|
|
| Absent inner dynein arms in a fetus with familial hydrocephalus‐situs abnormality |
|
|
|
|
|
|
|
|
|
| Mutation analysis of MECP2 and determination of the X‐inactivation pattern in Hungarian Rett syndrome patients |
|
|
|
|
|
|
✓ |
|
Hungarian |
| Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array‐CGH |
|
|
|
|
|
|
|
|
|
| Reply to letter by Volpi regarding: “RNA processing defects of the helicase gene <i>RECQL4</i> in a compound heterozygous Rothmund–Thomson patient” |
|
|
|
|
|
|
|
|
|
| Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome |
|
|
|
|
|
|
|
|
|
| Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature |
|
|
|
|
|
|
|
|
|
| Giant omphalocele and “prune belly” sequence as components of the Beckwith–Wiedemann syndrome |
|
|
|
|
|
|
|
|
|
| A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies |
|
|
|
|
|
|
|
|
|
| Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”? |
|
|
|
|
|
|
|
|
|
| Mild developmental delay in terminal chromosome 6p deletion |
|
|
|
|
|
|
|
|
|
| Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? |
|
|
|
|
|
|
|
|
|
| Longitudinal evolution of unidentified bright objects in children with neurofibromatosis‐1 |
|
|
|
|
|
|
|
|
|
| Inheritance of most X‐linked traits is not dominant or recessive, just X‐linked |
|
|
|
|
|
|
|
|
|
| Mitotic and meiotic instability of a telomere association involving the Y chromosome |
|
|
|
|
|
|
|
|
|
| Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: First report of a Mexican patient and genotype–phenotype correlation |
|
|
|
|
|
|
|
|
|
| Identification of a <i>SEDL</i> gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| Further delineation of the odonto–onycho–dermal dysplasia syndrome |
|
|
|
|
|
|
|
|
|
| Glucose 6‐phosphate dehydrogenase (G6PD) deficiency in elderly Chinese women heterozygous for G6PD variants |
|
|
|
|
|
|
|
|
|
| Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1 |
|
|
|
|
|
|
|
|
|
| Duplication 4p and deletion 4p (Wolf–Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation |
|
|
|
|
|
|
|
|
|
| Glutamate carboxipeptidase II (<i>GCPII</i>) His475Tyr polymorphism and association studies |
|
|
|
|
|
|
|
|
|
| Costello syndrome with growth hormone deficiency and hypoglycemia: A new report and review of the endocrine associations |
|
|
|
|
|
|
|
|
|
| Hydrolethalus syndrome, in contrast to Smith–Lemli–Opitz syndrome, is not due to a defect in post‐squalene cholesterol biosynthesis: A case report |
|
|
|
|
|
|
|
|
|
| Paternal transmission of fragile X syndrome |
|
|
|
|
|
|
|
|
|
| Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction |
|
|
|
|
|
|
|
|
|
| Surrendered autonomy for genetic screening |
|
|
|
|
|
|
|
|
|
| Worry about ovarian cancer risk and use of screening by high‐risk women: How you recruit affects what you find |
|
|
|
|
|
|
|
|
|
| A novel <i>MSX1</i> mutation in hypodontia |
|
|
|
|
|
|
|
|
|
| Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986–1999 |
|
|
|
|
|
|
|
|
|
| Primary trabeculodysgenesis in association with neonatal Marfan syndrome |
|
|
|
|
|
|
|
|
|
| A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses |
|
|
|
|
|
|
|
|
|
| Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype |
|
|
|
|
|
|
|
|
|
| Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome |
|
|
|
|
|
|
|
|
|
| Growth hormone deficiency in Costello syndrome |
|
|
|
|
|
|
|
|
|
| Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic |
|
|
|
|
|
|
|
|
|
| Endangered species |
|
|
|
|
|
|
|
|
|
| Dent disease‐like phenotype and the chloride channel ClC‐4 (<i>CLCN4</i>) gene |
|
|
|
|
|
|
|
|
|
| New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations |
|
|
|
|
|
|
|
|
|
| Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers–Danlos syndrome |
|
|
|
|
|
|
|
|
|
| Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance |
|
|
|
|
|
|
|
|
|
| Outcome in Down syndrome fetuses with cardiac anomalies |
|
|
|
|
|
|
|
|
|
| Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases |
|
|
|
|
|
|
✓ |
✓ |
Puerto Rican population |
| Response to “…spondylothoracic dysplasia syndrome: A series of 27 new cases” by Cornier et al. |
|
|
|
|
|
|
|
|
|
| Mutations in IRF6 do not cause Bartsocas–Papas syndrome in a family with two affected sibs |
|
|
|
|
|
|
|
|
|
| Letter in response to “RNA processing defects of the helicase gene <i>RECQL4</i> in a compound heterozygous Rothmund–Thomson patient” by Beghini et al. |
|
|
|
|
|
|
|
|
|
| Book Review |
|
|
|
|
|
|
|
|
|
| Czech Dysplasia Metatarsal Type |
|
✓ |
|
|
|
|
|
|
|
| A newly recognized chondrodysplasia with multiple dislocations |
|
|
|
|
|
|
|
|
|
| A locus for nonspecific X‐linked mental retardation mapped to a 22.3 cM region of Xp11.3‐q22.3 |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and |
|
|
|
|
|
|
|
|
|
| Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population |
|
✓ |
|
|
|
✓ |
|
|
cosmopolitan European populations |
| Congenital idiopathic intestinal pseudo‐obstruction and hydrocephalus with stenosis of the aqueduct of sylvius |
|
|
|
|
|
|
|
|
|
| Search for loss of heterozygosity and mutation analysis of <i>KRIT1</i> gene in CCM patients |
|
|
|
|
|
|
|
|
|
| Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature |
|
|
|
|
|
|
|
|
|
| De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder |
|
|
|
|
|
|
|
|
|
| Hypomorphic alleles within the <i>EBP</i> gene cause a phenotype quite different from Conradi–Hünermann–Happle syndrome |
|
|
|
|
|
|
|
|
|
| Endocrine abnormalities in patients with Jacobsen (11q−) syndrome |
|
|
|
|
|
|
|
|
|
| The 11q terminal deletion disorder: A prospective study of 110 cases |
|
|
|
|
|
|
|
|
|
| Genotype/phenotype analysis in a patient with pure and complete trisomy 12p |
|
|
|
|
|
|
|
|
|
| Does bilirubin protect against hemochromatosis gene (<i>HFE</i>) related mortality? |
|
|
|
|
|
|
|
|
|
| Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations |
|
|
|
|
|
|
|
|
|
| Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan‐Separovic E, Doyle J, Pantzar T, Langlois S |
|
|
|
|
|
|
|
|
|
| Analysis of the developmental <i>SIX6</i> homeobox gene in patients with anophthalmia/microphthalmia |
|
|
|
|
|
|
|
|
|
| Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion |
|
|
|
|
|
|
|
|
|
| <i>parkin</i> mutation analysis in clinic patients with early‐onset Parkinson's disease |
|
|
|
|
|
|
|
|
|
| Is brachydactyly type Ballard a variant of brachydactyly type E? |
|
|
|
|
|
|
|
|
|
| Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley–Bixler syndrome |
|
|
|
|
|
|
|
|
|
| A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis |
|
|
|
|
|
|
|
|
|
| Choanal atresia associated with prenatal methimazole exposure: Three new patients |
|
|
|
|
|
|
|
|
|
| Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism |
|
|
|
|
|
|
|
|
|
| Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype |
|
|
|
|
|
|
|
|
|
| Functional disomy of Xp including duplication of <i>DAX1</i> gene with sex reversal due to t(X;Y)(p21.2;p11.3) |
|
|
|
|
|
|
|
|
|
| Pregnancy in a healthy woman with untreated citrullinemia |
|
|
|
|
|
|
|
|
|
| Gene discovery in the auditory system using a tissue specific approach |
|
|
|
|
|
|
|
|
|
| Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries |
|
|
|
|
|
|
|
|
|
| Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency |
|
|
|
|
|
|
|
|
|
| Infant with severe penicillamine embryopathy born to a woman with Wilson disease |
|
|
|
|
|
|
|
|
|
| Phenotypic and molecular variability of the holoprosencephalic spectrum |
|
|
|
|
|
|
|
|
|
| Severe lower limb defects in exstrophy of the cloaca |
|
|
|
|
|
|
|
|
|
| Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome |
|
|
|
|
|
|
|
|
|
| Kantaputra mesomelic dysplasia: A second reported family |
|
|
|
|
|
|
|
|
|
| MICRO syndrome: An entity distinct from COFS syndrome |
|
|
|
|
|
|
|
|
|
| Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial |
|
|
|
|
|
|
|
|
|
| Infantile systemic hyalinosis: A clinicopathological study |
|
|
|
|
|
|
|
|
|
| Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients |
|
|
|
|
|
|
|
|
|
| Malignant degeneration of presacral teratoma in the Currarino anomaly |
|
|
|
|
|
|
|
|
|
| Perrault syndrome: Evidence for progressive nervous system involvement |
|
|
|
|
|
|
|
|
|
| Medical privacy and the disclosure of personal medical information: The beliefs and experiences of those with genetic and other clinical conditions |
|
|
|
|
|
|
|
|
|
| Ring (Y) in two azoospermic men |
|
|
|
|
|
|
|
|
|
| Nonmosaic smallest duplication of 12q24.31‐qter: The first reported case |
|
|
|
|
|
|
|
|
|
| Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome |
|
|
|
|
|
|
|
|
|
| A new insight into fragile X syndrome among Basque population |
|
✓ |
|
|
|
|
✓ |
✓ |
Caucasian populations |
| Oto‐onycho‐peroneal syndrome: Further delineation and first fetal report |
|
|
|
|
|
|
|
|
|
| Phenotype and X inactivation in 45,X/46,X,r(X) cases |
|
|
|
|
|
|
|
|
|
| RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132–135.] |
|
|
|
|
|
|
|
|
|
| Is cascade testing a sensible method of screening a population for autosomal recessive disorders? |
|
|
|
|
|
|
|
|
|
| Early hearing detection and intervention programs: Opportunities for genetic services |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of chromosome 2q32‐34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency) |
|
|
|
|
|
|
|
|
|
| Osteopathia striata with cranial sclerosis: Clinical, radiological, and bone histological findings in an adolescent girl |
|
|
|
|
|
|
✓ |
✓ |
French-Canadian |
| Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children |
|
|
|
|
|
|
|
|
|
| Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence for <i>SHOX</i> deletion/mutation |
|
|
|
|
|
|
|
|
|
| Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (<i>POR</i>) in two patients with Antley–Bixler syndrome |
|
|
|
|
|
|
|
|
|
| Severe congenital myopathy with Möbius, Robin, and Poland sequences: New aspects of the Carey–Fineman–Ziter syndrome |
|
|
|
|
|
|
|
|
|
| Professor Robin Michael Winter 1950–2004: An appreciation |
|
|
|
|
|
|
|
|
|
| Pontine hypoplasia in Carey–Fineman–Ziter (CFZ) syndrome |
|
|
|
|
|
|
|
|
|
| The Carey–Fineman–Ziter syndrome: Follow‐up of the original siblings and comments on pathogenesis |
|
|
|
|
|
|
|
|
|
| FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male |
|
|
|
|
|
|
|
|
|
| Toriello–Carey syndrome and unbalanced translocation t(8;18)(p12;q22) |
|
|
|
|
|
|
|
|
|
| Attitudes of deaf individuals towards genetic testing |
|
|
|
|
|
|
|
|
|
| Mutation analysis of the <i>M6b</i> gene in patients with Pelizaeus–Merzbacher‐like syndrome |
|
|
|
|
|
|
|
|
|
| On the reported 8p22‐p23.1 duplication in Kabuki make‐up syndrome (KMS) and its absence in patients with typical KMS |
|
|
|
|
|
|
|
|
|
| Genetics and alcoholism among at‐risk relatives II: Interest and concerns about hypothetical genetic testing for alcoholism risk |
|
|
|
|
|
|
|
|
|
| Pseudoaminopterin syndrome and trisomy 9 |
|
|
|
|
|
|
|
|
|
| Superficial siderosis: A potentially important cause of genetic as well as non‐genetic deafness |
|
|
|
|
|
|
|
|
|
| Genetics and alcoholism among at‐risk relatives I: Perceptions of cause, risk, and control |
|
|
|
|
|
|
|
|
|
| Intrauterine onset of acute neuropathic type 2 Gaucher disease: Identification of a novel insertion sequence |
|
✓ |
|
|
|
|
|
|
|
| Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1 |
|
|
|
|
|
|
|
|
|
| Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome |
|
|
|
|
|
|
|
|
|
| Genetic influences on life span and survival among elderly African‐Americans, Caribbean Hispanics, and Caucasians |
✓ |
✓ |
|
|
|
|
✓ |
✓ |
African‐Americans, Caribbean Hispanics |
| Knowledge without truth: Screening for complications of neurofibromatosis type 1 in childhood |
|
|
|
|
|
|
|
|
|
| Reply to the letter from Marino et al. “Outcome in Down syndrome fetuses with cardiac anomalies” |
|
|
|
|
|
|
|
|
|
| De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder |
|
|
|
|
|
|
|
|
|
| Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child |
|
|
|
|
|
|
|
|
|
| Cognitive and adaptive behavior profiles of children with Angelman syndrome |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity in Usher syndrome |
|
|
|
|
|
|
|
|
|
| Disomy of distal Xq in males: Case report and overview |
|
|
|
|
|
|
|
|
|
| Craniosynostosis with extra copy of <i>MSX2</i> in a patient with partial 5q‐trisomy |
|
|
|
|
|
|
|
|
|
| Molecular characterization of inv dup del(8p): Analysis of five cases |
|
|
|
|
|
✓ |
✓ |
✓ |
26% in Europeans; 39% in a normal Japanese population |
| Is G6PD A‐ deficiency associated with recurrent stillbirths in The Gambia? |
|
|
|
|
|
|
|
|
|
| Microcephalic osteodysplastic primordial dwarfism type II: A child with café au lait lesions, cutis marmorata, and moyamoya disease |
|
|
|
|
|
|
|
|
|
| Clinical and genetic heterogeneity in Desbuquois dysplasia |
|
|
|
|
|
|
|
|
|
| Cardiomyopathy in Coffin–Lowry syndrome |
|
|
|
|
|
|
|
|
|
| Risk calculations: Still essential in the molecular age |
|
|
|
|
|
|
|
|
|
| A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation |
|
|
|
|
|
|
|
|
|
| Proposed association between the <i>COL1A1</i> and <i>COL1A2</i> genes and otosclerosis is not supported by a case‐control study in Spain |
|
✓ |
|
✓ |
|
|
|
|
|
| Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex‐reversal |
|
|
|
|
|
|
|
|
|
| Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the <i>ARSA</i> gene |
|
|
|
|
|
|
|
|
|
| Clinical application of genetic testing for deafness |
|
|
|
|
|
|
|
|
|
| A kindred with Cockayne syndrome caused by multiple splicing variants of the <i>CSA</i> gene |
|
|
|
|
|
|
|
|
|
| <i>SHOX</i> mutations in a family and a fetus with Langer mesomelic dwarfism |
|
|
|
|
|
|
|
|
|
| Identification of a mutation in the <i>PKD2</i> gene in a family with age‐related macular degeneration |
|
|
|
|
|
|
|
|
|
| Prospective study comparing HR‐CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR‐CGH |
|
|
|
|
|
|
|
|
|
| Trisomy 14pter → q21: A case with associated ovarian germ cell tumor and review of the literature |
|
|
|
|
|
|
|
|
|
| Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers |
|
|
|
|
|
|
|
|
|
| Spondyloenchondrodysplasia: Clinical variability in three cases |
|
|
|
|
|
|
|
|
|
| Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls |
|
|
|
|
|
|
|
|
|
| Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis |
|
|
|
|
|
|
|
|
|
| Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair |
|
|
|
|
|
|
|
|
|
| Mild Wolf–Hirschhorn phenotype and partial gh deficiency in a patient with a 4p terminal deletion |
|
|
|
|
|
|
|
|
|
| Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication |
|
|
|
|
|
|
|
|
|
| Investigation of the W185X nonsense mutation of <i>PVRL1</i> gene in Italian nonsyndromic cleft lip and palate patients |
|
|
|
|
|
|
✓ |
|
Italian |
| Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect |
|
|
|
|
|
|
|
|
|
| New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome |
|
|
|
|
|
|
|
|
|
| Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships |
|
|
|
|
|
|
✓ |
✓ |
Dutch descent; Hindu population of Surinam |
| Natural history of twin disruption sequence |
|
|
|
|
|
|
|
|
|
| Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome |
|
|
|
|
|
|
|
|
|
| Hypertelorism, ptosis, and myopia associated with drug‐resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia |
|
|
|
|
|
|
|
|
|
| Early diagnosis of Wolf–Hirschhorn syndrome triggered by a life‐threatening event: Congenital diaphragmatic hernia |
|
|
|
|
|
|
|
|
|
| Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis |
|
|
|
|
|
|
|
|
|
| Severe subacute G<sub>M2</sub> gangliosidosis caused by an apparently silent <i>HEXA</i> mutation (V324V) that results in aberrant splicing and reduced <i>HEXA</i> mRNA |
|
|
|
|
|
|
|
|
|
| Microcephalic osteodysplastic primordial short stature type II with café‐au‐lait spots and moyamoya disease: Another patient |
|
|
|
|
|
|
|
|
|
| 46,XX sex reversal with partial duplication of chromosome arm 22q |
|
|
|
|
|
|
|
|
|
| A chromosome 21‐derived minute marker in a mosaic trisomy 21 background: Implications for risk assessments in marker chromosome cases |
|
|
|
|
|
|
|
|
|
| Metabolic and molecular basis of peroxisomal disorders: A review |
|
|
|
|
|
|
|
|
|
| Integrative classification of morphology and molecular genetics in central nervous system malformations |
|
|
|
|
|
|
|
|
|
| 3D analysis of facial morphology |
|
|
|
|
|
|
|
|
|
| Cohen syndrome in the Ohio Amish |
|
|
|
|
|
|
✓ |
✓ |
Amish; Amish kindreds; the Amish; ethnic populations; ethnic group |
| Macrocephaly, mental retardation, dysmorphism, and spastic paraplegia |
|
|
|
|
|
|
|
|
|
| Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: A phenotype overlapping Stratton–Parker syndrome |
|
|
|
|
|
|
|
|
|
| Ablepharon‐macrostomia syndrome in a 46‐year‐old woman |
|
|
|
|
|
|
|
|
|
| A rapid diagnostic method for a retrotransposal insertional mutation into the <i>FCMD</i> gene in Japanese patients with Fukuyama congenital muscular dystrophy |
|
|
|
|
|
|
|
|
|
| A novel missense mutation in the galactosyltransferase‐I (<i>B4GALT7</i>) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type |
|
|
|
|
|
|
|
|
|
| A 3‐bp deletion mutation of <i>PTPN11</i> in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia |
|
|
|
|
|
|
|
|
|
| New onset focal weakness in children with Down syndrome |
|
|
|
|
|
|
|
|
|
| Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)] |
|
|
|
|
|
|
|
|
|
| Non‐neurogenic sarcomas in four children and young adults with neurofibromatosis type 1 |
|
|
|
|
|
|
|
|
|
| Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33 |
|
|
|
|
|
|
✓ |
✓ |
Jewish-Iranian; Israeli; Iranian |
| Polyvalvular heart disease associated with short stature, facial anomalies, and mental retardation: An additional familial report |
|
|
|
|
|
|
|
|
|
| A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: Genetic heterogeneity of McKusick–Kaufman syndrome or a unique syndrome? |
|
✓ |
|
|
|
|
|
|
|
| Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women |
|
|
|
|
|
|
|
|
|
| Myotonic dystrophy—no evidence for preferential transmission of the mutated allele: A prenatal analysis |
|
|
|
|
|
|
|
|
|
| Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the <i>sonic hedgehog</i> gene and the <i>HLXB9</i> gene at |
|
|
|
|
|
|
|
|
|
| Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in <i>TCOF1</i> |
|
|
|
|
|
|
|
|
|
| A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly |
|
|
|
|
|
|
|
|
|
| Cerebellum—small brain but large confusion: A review of selected cerebellar malformations and disruptions |
|
|
|
|
|
|
|
|
|
| X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update |
|
|
|
|
|
|
|
|
|
| A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys) |
|
|
|
|
|
|
|
|
|
| Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis |
|
|
|
|
|
|
|
|
|
| Can amputated digits point to clues about etiology? |
|
|
|
|
|
|
|
|
|
| A further case of coincidental Prader–Willi and Klinefelter syndromes |
|
|
|
|
|
|
|
|
|
| 9q34.3 deletion syndrome in three unrelated children |
|
|
|
|
|
|
|
|
|
| Novel <i>SURF1</i> mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome |
|
|
|
|
|
|
|
|
|
| Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey |
|
|
|
|
|
|
|
|
|
| Autosomal dominant inheritance of infantile myofibromatosis |
|
|
|
|
|
|
|
|
|
| Ala67Thr polymorphism in the Agouti‐related peptide gene is associated with inherited leanness in humans |
|
|
|
|
|
|
|
|
|
| Book review |
|
|
|
|
|
|
|
|
|
| The challenge in hidden treasures: A never ending story |
|
|
|
|
|
|
|
|
|
| Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients |
|
|
|
|
|
|
|
|
|
| Large deletion of the <i>GJB6</i> gene in deaf patients heterozygous for the <i>GJB2</i> gene mutation: Genotypic and phenotypic analysis |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes |
|
|
|
|
|
|
|
|
|
| Two sibs with fibrochondrogenesis |
|
|
|
|
|
|
|
|
|
| <i>TGFB1</i> mutations in four new families with Camurati–Engelmann disease: Confirmation of independently arising LAP‐domain‐specific mutations |
|
|
|
|
|
|
|
|
|
| Discordant phenotypes in first cousins with <i>UBE3A</i> frameshift mutation |
|
|
|
|
|
|
|
|
|
| Risk of sudden death in the Williams–Beuren syndrome |
|
|
|
|
|
|
|
|
|
| Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome |
|
|
|
|
|
|
|
|
|
| Twenty‐four new cases of <i>WT1</i> germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development |
|
|
|
|
|
|
|
|
|
| Marfanoid habitus with abnormal situs |
|
|
|
|
|
|
|
|
|
| Klippel–Feil anomaly and neural tube defects |
|
|
|
|
|
|
|
|
|
| Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X‐linked mental retardation associated with other neurological dysfunction |
|
|
|
|
|
|
|
|
|
| Identification of mutations in <i>TCOF1</i>: Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome |
|
|
|
|
|
|
|
|
|
| <i>CDKN1C</i> mutation in Wiedemann–Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer |
|
|
|
|
|
|
|
|
|
| Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: A new clinical entity? |
|
|
|
|
|
|
|
|
|
| Elevated catecholamine metabolites in patients with Costello syndrome |
|
|
|
|
|
|
|
|
|
| Psychotic disorders in Prader–Willi syndrome |
|
|
|
|
|
|
|
|
|
| Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: A novel syndrome? |
|
|
|
|
|
|
|
|
|
| Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidne |
|
|
|
|
|
|
|
|
|
| Segmentation anomalies of the vertebras and ribs: One expression of the primary developmental field |
|
|
|
|
|
|
|
|
|
| DNA studies of mono‐ and pseudodicentric isochromosomes 18q |
|
|
|
|
|
|
|
|
|
| Goethe's bone and the beginnings of morphology |
|
|
|
|
|
|
|
|
|
| Mutation of <i>SFTPC</i> in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease |
|
|
|
✓ |
|
|
✓ |
✓ |
endogamous white settler population of Réunion Island |
| A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader–Willi syndrome, Angelman syndrome and duplication of 15q11.2‐q13 in a single family: Importance of differentiation from a p |
|
|
|
|
|
|
|
|
|
| Social behavior profile in young males with fragile X syndrome: Characteristics and specificity |
|
|
|
|
|
|
|
|
|
| Growth of heterokaryotic monozygotic twins discordant for Ullrich–Turner syndrome during the first years of life |
|
|
|
|
|
|
✓ |
✓ |
Turkish |
| Genetic analysis of candidate loci in non‐syndromic cleft lip families from Antioquia‐Colombia and Ohio |
|
|
|
|
|
|
|
|
|
| Clinical Cytogeneticist |
|
|
|
|
|
|
|
|
|
| National society of genetic counselors 23rd annual education conference <i>call for abstracts</i> |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|