| Pregnancy and birth history of newborns with trisomy 18 or 13: A pilot study |
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| Genetic screening for reproductive purposes at school: Is it a good strategy? |
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| Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation |
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| Noonan syndrome: Psychological and psychiatric aspects |
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| Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes |
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| Priorities for public health research on craniosynostosis: Summary and recommendations from a Centers for Disease Control and Prevention‐sponsored meeting |
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| Genetic disorders of the Indian subcontinent. Edited by Dhavendra Kumar. Dordrecht, The Netherlands: Kluwer Academinc Publishers, 2004. 608 p. |
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| Bile duct anomalies in a male child with Noonan syndrome: A case for ras and notch pathway synergism |
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| New case of interstitial deletion 12(q15‐q21.2) in a girl with facial dysmorphism and mental retardation |
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| Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion |
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| Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba |
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| Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3 |
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✓ |
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| Cytogenetic study of spontaneous abortions using semi‐direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities |
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| Fragile X full mutation alleles composed of few alleles: Implications for CGG repeat expansion |
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| A girl with Down syndrome and partial trisomy for 21pter‐q22.13: A clue to narrow the Down syndrome critical region |
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| Descriptive epidemiology of Cornelia de Lange syndrome in Europe |
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| Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q‐phenotype |
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| Major gene and multifactorial inheritance of mandibular prognathism |
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| A child with deletion (14)(q24.3q32.13) and auditory neuropathy |
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| Re: Miles & Takahashi paper on RhIg and autism |
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| Neurofibromatosis 1: Analysis of the demand for prenatal diagnosis in a French cohort of 361 patients |
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| Retention of African American women in cancer genetics research |
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✓ |
✓ |
African American |
| The rapid estimate of adult literacy in genetics (REAL‐G): A means to assess literacy deficits in the context of genetics |
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| Mowat‐Wilson syndrome with craniosynostosis: A case report |
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| Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism |
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| Acute postnatal cataract formation in Smith‐Lemli‐Opitz syndrome |
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| Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the <i>FGFR3</i> Lys650Met mutation |
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| Multiple hemangiomas in a patient with a t(3q;4p) translocation: An infrequent association with Wolf–Hirschhorn syndrome |
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| Mutations in <i>GATA4</i>, <i>NKX2.5</i>, <i>CRELD1</i>, and <i>BMP4</i> are infrequently found in patients with congenital cardiac septal defects |
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| Hemihyperplasia and discordant bone age in a patient with trisomy 8 mosaicism |
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| Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf–Hirschhorn syndrome |
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| Toriello‐Carey syndrome phenotype and chromosome anomalies |
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| Characterization of interstitial Xp duplications in two families by tiling path array CGH |
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| A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development |
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| Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) |
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| In utero exposure to mycophenolate mofetil: A characteristic phenotype? |
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| Familial CHARGE syndrome and the <i>CHD7</i> gene: A recurrent missense mutation, intrafamilial recurrence and variability |
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| The Mayer–Rokitansky–Kuster–Hauser and gonadal dysgenesis anomaly in a girl with 45,X/46,X,del(X)(p11.21) |
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| Acrocentric cryptic translocation associated with nondisjunction of chromosome 21 |
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| The clinical phenotype of mosaicism for genome‐wide paternal uniparental disomy: Two new reports |
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| The heterozygous <i>LMNA</i> mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy |
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| Population‐based analysis of left‐ and right‐sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies |
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| Does single umbilical artery (SUA) predict any type of congenital defect? Clinical–epidemiological analysis of a large consecutive series of malformed infants |
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| Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNA |
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| Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders |
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✓ |
✓ |
Finnish |
| Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings |
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| A patient with 22q11.2 deletion and Opitz syndrome‐like phenotype has the same deletion as velocardiofacial patients |
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| Complementary and alternative medicine (CAM) in genetics |
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| Obesity: Genetic, molecular, and environmental aspects |
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| Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus |
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| Status of the human malformation map: 2007 |
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| Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria |
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| Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings |
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| Genetics of sexual development: A new paradigm |
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| Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients |
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✓ |
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| Regional analysis on the occurrence of oral clefts in South America |
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✓ |
✓ |
Amerindian ancestry; African Black ancestry |
| Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature |
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| A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000 |
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| Nonsense‐mediated decay and the molecular pathogenesis of mutations in <i>SALL1</i> and <i>GLI3</i> |
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| X‐chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate |
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| The face of Joubert syndrome: A study of dysmorphology and anthropometry |
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| A patient with <i>TCIRG1</i>‐related infantile osteopetrosis presenting with congenital anomalies: Chance association or a case for pleiotropy? |
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| Introductory comments: M. Michael Cohen Jr. Festschrift |
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| Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? |
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| Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene |
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| Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia‐ischemia a unifying mechanism? |
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| Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15 |
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| The morphogenesis of wormian bones: A study of craniosynostosis and purposeful cranial deformation |
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| Brain anomalies in encephalocraniocutaneous lipomatosis |
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| Emerging infections and pregnancy: Assessing the impact on the embryo or fetus |
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| Development: Clinical and evolutionary considerations |
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| Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification |
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| A hitchhiker's guide to the older literature of descriptive teratology |
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| Oro‐facial‐digital syndrome IX with severe microcephaly: A new variant in a genetically isolated population |
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| Evidence that macrocephaly and obesity may be dependent traits |
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| Syndromic craniosynostosis due to complex chromosome 5 rearrangement and<i>MSX2</i>gene triplication |
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| Two distinctive mechanisms leading to disruption of the <i>SHOX</i> transcription unit in a single family |
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| A familial case of achondrogenesis type II caused by a dominant <i>COL2A1</i> mutation and “patchy” expression in the mosaic father |
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| A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth |
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| Beckwith–Wiedemann‐like macroglossia and 18q23 haploinsufficiency |
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| Familial and genetic associations in Worster‐Drought syndrome and perisylvian disorders |
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| Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the <i>SHOX</i> and <i>SOX3</i> genes |
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| Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility? |
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| DOOR syndrome: Clinical report, literature review and discussion of natural history |
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| Clinical epidemiologic study of holoprosencephaly in South America |
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| Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2 |
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| Nonmosaic balanced homologous translocations of major clinical significance: Some may be mosaic |
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| Familial posterior helical ear pits |
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| Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion |
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| A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia |
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✓ |
✓ |
Amish |
| 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome? |
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| Cerebro‐oculo‐nasal syndrome: 13 new Brazilian cases |
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| Descent, lineage, and pedigree of the Trojans in Homer's <i>Iliad</i> |
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| The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review |
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| <i>MECP2</i> deletions and genotype–phenotype correlation in Rett syndrome |
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| Sequence evaluation of FGF and FGFR gene conserved non‐coding elements in non‐syndromic cleft lip and palate cases |
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| Accurately renaming macrocephaly‐cutis marmorata telangiectatica congenita (M‐CMTC) as macrocephaly‐capillary malformation (M‐CM) |
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| Terminological inexactitude |
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| Visualization of human prenatal development by magnetic resonance imaging (MRI) |
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| Embryogenesis of holoprosencephaly |
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| Newly delineated syndrome of <i>c</i>ongenital <i>l</i>ipomatous <i>o</i>vergrowth, <i>v</i>ascular malformations, and <i>e</i>pidermal nevi (CLOVE syndrome) in seven patients |
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| Oral–facial–digital syndromes: Review and diagnostic guidelines |
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| Longitudinal assessment of cognitive characteristics in Costello syndrome |
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| Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis |
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| Two siblings with an unusual nasal malformation: Further instances of craniorhiny? |
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| Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum |
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| Craniosynostosis associated with distal 5q‐trisomy: Further evidence that extra copy of <i>MSX2</i> gene leads to craniosynostosis |
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| Subtypes of frontonasal dysplasia are useful in determining clinical prognosis |
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| Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review |
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| Compound heterozygous mutations in fibulin‐4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa |
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| Homozygosity for a novel splice site mutation in the cardiac myosin‐binding protein C gene causes severe neonatal hypertrophic cardiomyopathy |
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|
✓ |
✓ |
Old Order Amish |
| Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review |
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| Genotype/phenotype correlations in two patients with 12q subtelomere deletions |
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| van den Ende–Gupta syndrome: Laryngeal abnormalities in two siblings |
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✓ |
✓ |
African-American; Brazilian |
| Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype |
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| Preliminary molecular studies on blepharocheilodontic syndrome |
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| Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism |
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| The emotional effects of genetic diseases: Implications for clinical genetics |
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| Limb body wall complex and amniotic band sequence in sibs |
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| Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome |
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| Multifocal rapidly involuting congenital hemangioma: A link to chorangioma |
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| Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes |
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|
✓ |
✓ |
"Asian or African descent"; "African, Asian or Hispanic"; "children of Asian, Hispanic or African he |
| Congenital malformations co‐occurring with hypospadias in California, 1983–1997 |
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| Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy |
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| A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q |
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| Suggestive linkage to a neighboring region of <i>IRF6</i> in a cleft lip and palate multiplex family |
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| Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retarda |
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| Cartilage hair hypoplasia mutations that lead to <i>RMRP</i> promoter inefficiency or RNA transcript instability |
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| Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology |
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| Three additional cases of the Michels syndrome |
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| Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome |
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|
✓ |
✓ |
Sri‐Lankan descent |
| M34T and V37I mutations in <i>GJB2</i> associated hearing impairment: Evidence for pathogenicity and reduced penetrance |
|
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|
✓ |
✓ |
Polish |
| Mandibuloacral dysplasia and a novel <i>LMNA</i> mutation in a woman with severe progressive skeletal changes |
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✓ |
✓ |
Japanese |
| Aortic dilatation in Cockayne syndrome |
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| Syndrome of congenital cataracts, sensorineural deafness, Down syndrome‐like facial appearance, short stature, and mental retardation: Two additional cases |
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| LEOPARD syndrome with partly normal skin and sex chromosome mosaicism |
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| Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness |
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| Complete sex reversal in a WAGR syndrome patient |
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| Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth |
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| Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome |
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| Noncirrhotic portal hypertension in a child with velocardiofacial syndrome |
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| Posterior polymorphous corneal dystrophy is associated with <i>TCF8</i> gene mutations and abdominal hernia |
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| Somatic and gonadal mosaicism in X‐linked retinitis pigmentosa |
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| Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: Results of a pilot study in Israel |
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| Book review |
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| An unclassifiable short rib‐polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings |
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| Long‐term follow‐up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex |
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| Trisomy 9 mosaicism and XX sex reversal |
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| Book Review |
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| Kidney failure in Townes–Brocks syndrome: An under recognized phenomenon? |
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| A novel missense mutation in the paired domain of human <i>PAX9</i> causes oligodontia |
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| Diagnostic utility of array‐based comparative genomic hybridization in a clinical setting |
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| Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union |
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| A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities |
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| Pai syndrome: Report of seven South American patients |
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✓ |
✓ |
South American patients |
| Mortality in achondroplasia study: A 42‐year follow‐up |
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| Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long‐term natural history |
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| Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation |
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| Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11–q13 |
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| <i>WT1</i> mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations |
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| Craniofacioskeletal syndrome: An X‐linked dominant disorder with early lethality in males |
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✓ |
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| Late‐onset combined homocystinuria and methylmalonic aciduria (<i>cblC</i>) and neuropsychiatric disturbance |
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✓ |
✓ |
Hispanic |
| A boy with severe craniodiaphyseal dysplasia and apparently normal mother |
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| Pseudo‐Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8 |
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| Tibial agenesis and Gollop–Wolfgang complex |
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| Conorenal dysplasia: A syndrome of cone‐shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur |
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| Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies |
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| An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub‐bands of gene paucity and pervasive CNV characterize the <i>chromosome anomalies</i> |
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| The origin of trisomy 13 |
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| Fetal anticonvulsant syndromes and polymorphisms in <i>MTHFR</i>, <i>MTR</i>, and <i>MTRR</i> |
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| Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter |
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| Sibling phenotype concordance in classical infantile Pompe disease |
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| Trisomy 2 mosaicism in hypomelanosis of Ito |
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| Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies |
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| Two novel <i>GALNT3</i> mutations in familial tumoral calcinosis |
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| Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome |
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✓ |
✓ |
Dutch |
| Periconceptional consumption of vitamins containing folic acid and risk for multiple congenital anomalies |
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| <i>PAK3</i> related mental disability: Further characterization of the phenotype |
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| Further refinement of the candidate region for monosomy 9p syndrome |
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| Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders |
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| Clinical phenotype of lathosterolosis |
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| <i>MYO15A</i> (<i>DFNB3</i>) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation |
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| Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene <i>FGD |
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| Associated malformations in patients with oral clefts |
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| Dominantly‐inherited lop ears |
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✓ |
✓ |
Chinese |
| Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, <i>PAX1</i> and <i>MEOX1</i> |
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| Book review |
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| Weight for age charts for children with achondroplasia |
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| A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters |
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| Cleft lip with or without cleft palate: Frequency in different ethnic populations from the UCSF craniofacial clinic |
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| Keipert syndrome (Nasodigitoacoustic syndrome) is X‐linked and maps to Xq22.2–Xq28 |
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| Social, emotional, and behavioral functioning of children with NF1 |
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✓ |
✓ |
same race/gender |
| Risk factors for isolated biliary atresia, National Birth Defects Prevention Study, 1997–2002 |
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✓ |
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✓ |
✓ |
non-Hispanic white; non-Hispanic black |
| <i>NAT2</i>variation and idiopathic talipes equinovarus (clubfoot) |
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✓ |
✓ |
Hispanic |
| Neuropathy as a presenting feature in fragile X‐associated tremor/ataxia syndrome |
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| Ophthalmo‐acromelic syndrome: Report of a case with vertebral anomalies |
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| The origin of trisomy 22: Evidence for acrocentric chromosome‐specific patterns of nondisjunction |
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| Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies |
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| Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation |
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| Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14 |
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| Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review |
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| Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS) |
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| Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review |
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| Prenatal diagnosis of a small chromosome 2‐derived supernumerary marker, and review of the reported cases |
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| Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites |
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| A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types |
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| Pure segmental trisomy 1q42‐qter in a boy with a severe phenotype |
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| Growth hormone analysis and treatment in Ellis–van Creveld syndrome |
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| Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature |
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| A microduplication of <i>CBP</i> in a patient with mental retardation and a congenital heart defect |
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| Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome? |
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| Parenting children with Proteus syndrome: Experiences with, and adaptation to, courtesy stigma |
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| Diagnostic imaging: Obstetrics. Written by: Woodward PJ, Kennedy A, Sohaey R, Byrne JLB, Oh KY, Puchalski MD. Published by: Amirsys/Elsevier, Salt Lake City, UT. ISBN: 1‐4160‐2335‐6. |
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| Fetal trisomy 5 mosaicism: Case report and literature review |
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| Neurofibromatosis type 1 is a genetic skeletal disorder |
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| <i>Interferon regulatory factor 6 (IRF6)</i> is associated with oral‐facial cleft in individuals that originate in South America |
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| ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma |
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| Prevalence of encephalocele in Texas, 1999–2002 |
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✓ |
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| Zellweger syndrome resulting from maternal isodisomy of chromosome 1 |
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| Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children |
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| Diaphragmatic defects and limb deficiencies—Taking sides |
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| Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance |
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| Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia |
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| 18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis |
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| Trisomy 1q42.3‐qter and monosomy 21q22.3‐qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: Delineation of a new syndrome |
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| The influence of coping styles and perceived control on emotional distress in persons at risk for a hereditary heart disease |
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| Exclusion of genes from the EYA‐DACH‐SIX‐PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS) |
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| Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay |
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| A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the <i>BCR</i> gene |
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✓ |
✓ |
Hispanic |
| Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome |
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| Association between 49 infant gene polymorphisms and preterm delivery |
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| Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance |
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| Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes |
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| Long‐term outcome of Leigh syndrome caused by the NARP‐T8993C mtDNA mutation |
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| Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome |
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✓ |
✓ |
Arab |
| A case of de novo partial tetrasomy of distal 6p and review of the literature |
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| “Holding your breath”: Interviews with young people who have undergone predictive genetic testing for Huntington disease |
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| Search for correlations between <i>FBN1</i> genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome |
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✓ |
✓ |
Norwegian |
| Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature |
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| Bifid tongue: A rare feature associated with infants of diabetic mother syndrome |
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| Late‐onset Charcot‐Marie‐Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the <i>MPZ</i> gene |
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| The uncertainty of life |
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| A girl with duplication 9q34 syndrome |
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| Cardiac findings in Weill–Marchesani syndrome |
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| A longitudinal case study of a child with mosaic trisomy 22: Language, cognitive, behavioral, physical, and dental outcomes |
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| A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia |
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| Ovarian failure in ataxia with oculomotor apraxia type 2 |
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| Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (<i>PTPN22</i>): Association between a promoter polymorphism and type 1 diabetes in Asian populations. Ame |
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✓ |
|
Asian populations |
| Disclosures of Huntington disease risk within families: Patterns of decision‐making and implications |
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| “Is NF1 a genetic skeletal disorder?”—A response |
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| The clinical utility of enhanced subtelomeric coverage in array CGH |
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| Interstitial del(20)(q11.2q12)—Clinical and molecular cytogenetic characterization |
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| A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features |
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| TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis |
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| Upper airway obstruction in neonates and infants with CHARGE syndrome |
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| Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome |
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| Genochondromatosis type II: Report of a new patient and further delineation of the phenotype |
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| Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins |
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| An 11q11–q13.3 duplication, including <i>FGF3</i> and <i>FGF4</i> genes, in a patient with syndromic multiple craniosynostoses |
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| Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis |
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| Genotype–phenotype mapping of chromosome 18q deletions by high‐resolution array CGH: An update of the phenotypic map |
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| Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements |
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| <i>Filamin A</i> mutation is one cause of FG syndrome |
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| Omphalocele, bladder exstrophy, imperforate anus, spine defects complex, and bilateral cleft lip and palate in one product of a triplet pregnancy obtained by in vitro fertilization: A case report |
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| A girl with deletion 9q22.1–q22.32 including the<i>PTCH</i>and<i>ROR2</i>genes identified by genome‐wide array‐CGH |
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| Ataxia‐telangiectasia: Mild neurological presentation despite null <i>ATM</i> mutation and severe cellular phenotype |
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| Clinical dividends from the molecular genetic diagnosis of craniosynostosis† |
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| An association of Hutchinson–Gilford progeria and malignancy |
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| Non‐Latin European descent could be a requirement for association of NTDs and<i>MTHFR</i>variant 677C > T: A meta‐analysis |
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✓ |
✓ |
|
|
Non‐Latin European descent; Latin European descent populations |
| Endochondral gigantism: A newly recognized skeletal dysplasia with pre‐ and postnatal overgrowth and endocrine abnormalities |
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| An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior |
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| How does the collection of genetic test results affect research participants? |
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| Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome |
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✓ |
✓ |
Israeli‐Arab descent |
| Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: Report on a second Lebanese patient |
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✓ |
✓ |
Lebanese |
| Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics |
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| Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (<i>SLC6A8</i>) mutation |
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✓ |
✓ |
Italian |
| A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: A physical finding useful for the differential diagnosis of polydactyly |
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| End‐stage renal failure in Smith–Magenis syndrome |
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| Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome |
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| Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome |
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| A 2‐Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome |
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| Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter) |
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| Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy |
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| Deletion 22q11.2: Report of a complex meiotic mechanism of origin |
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| <i>GPC3</i> mutations in seven patients with Simpson–Golabi–Behmel syndrome |
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| Recurrence risk in de novo structural chromosomal rearrangements |
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| Meckel syndrome in the Hutterite population is actually a Joubert‐related cerebello‐oculo‐renal syndrome |
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✓ |
✓ |
Hutterite |
| Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism |
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| A de novo nonsense mutation of <i>PAX6</i> gene in a patient with aniridia, ataxia, and mental retardation |
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| De novo mutation of the <i>DHCR7</i> gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome |
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| Gene–environment interactions: Fundamentals of ecogenetics. By Costa LG, Eaton DL, editors. Hoboken, NJ: John Wiley & Sons, 2006. 450 p. ISBN: 0‐471‐46781‐2. |
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| PCR‐RFLP assay for 235delC mutation detection in non‐syndromic hearing loss subjects |
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| Risk for cancer in patients with Bardet‐Biedl syndrome and their relatives |
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| Whole‐genome array‐CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features |
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| A novel <i>PTEN</i> mutation in Cowden syndrome is associated with a mixed degenerative‐erosive arthritic process: Potential molecular pathogenic mechanisms |
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| Phenotype description of a Dutch otosclerosis family with suggestive linkage to <i>OTSC7</i> |
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✓ |
✓ |
Dutch |
| Identification of novel mutations in <i>WFS1</i> and genotype–phenotype correlation in Wolfram syndrome |
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✓ |
✓ |
French patient group |
| Epidemiological study of nonsyndromic hearing loss in Sicilian newborns |
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| Molecular genetics study of deafness in Brazil: 8‐year experience |
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| A novel splice site mutation in <i>EYA4</i> causes DFNA10 hearing loss |
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| Molecular study in Brazilian cochlear implant recipients |
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| Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22 |
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| Nonsyndromic hearing loss DFNA10 and a novel mutation of <i>EYA4</i>: Evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain |
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| Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes <i>XIST</i> and disrupts the <i>EDA</i> gene |
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| Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome |
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| Pelizaeus‐Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations |
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✓ |
✓ |
Cajun Kindred |
| Clinical and genetic analysis of two Tunisian otosclerosis families |
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✓ |
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✓ |
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| Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome |
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| Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment |
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| A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation |
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| Introduction to hereditary deafness |
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| Partial tandem duplication of <i>GRIA3</i> in a male with mental retardation |
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| Is the disruption of an N‐myristoyltransferase (<i>NMT2</i>) associated with hypoplastic testes? |
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| Trisomy 13 and Meckel diverticulum: Challenges in management of infants with trisomy 13 |
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| Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5 |
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| Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to the <i>PKHD1</i> gene on chromosome 6p21.1‐p12 |
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| CDG‐Id in two siblings with partially different phenotypes |
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| Further delineation of the phenotype resulting from <i>BRAF</i> or <i>MEK1</i> germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome |
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| Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver–Russell syndrome |
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| Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia |
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✓ |
✓ |
Japanese |
| CNS malformations in Knobloch syndrome with splice mutation in <i>COL18A1</i> gene |
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| Methylthioadenosine phosphorylase (<i>MTAP</i>) in hearing: Gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis |
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| Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation |
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| Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome |
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| Upper gastrointestinal malformations in Coffin‐Siris syndrome |
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| Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: A clinical report series |
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| Parental narratives on genetic testing for children with hearing loss: A qualitative inquiry |
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✓ |
✓ |
racial, ethnic |
| A case for genetics education: Collaborating with speech‐language pathologists and audiologists |
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| Lack of association between Rh status, Rh immune globulin in pregnancy and autism |
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| Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance |
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| Physiologic noise obscures genotype–phenotype correlations |
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| Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23‐p16 region |
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| Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation |
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✓ |
✓ |
Laotian‐American |
| Fetal and maternal <i>CYP2E1</i> genotypes and the risk of nonsyndromic oral clefts |
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| A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes |
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| Interstitial deletion of 6q without phenotypic effect |
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| Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17 |
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| Regarding the ongoing discussion about the reporting of single cases |
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| Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri‐du‐chat syndrome |
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| Comprehensive <i>EMX2</i> genotyping of a large schizencephaly case series |
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| dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia |
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| The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases incl |
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✓ |
✓ |
ethnic variability |
| Expanding spectrum of congenital disorder of glycosylation Ig (CDG‐Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality |
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| Oculo‐auriculo‐vertebral spectrum: Associated anomalies, functional deficits and possible developmental risk factors |
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✓ |
✓ |
Swedish |
| Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome |
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| Discordant intrauterine environment may explain discordance in monozygotic twins |
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| Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY |
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| A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: Comment on “A Syndrome of Immunodeficiency, Autoimmunity, and Spondylometaphyseal Dy |
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| Hepatic vascular malformation in a patient with Simpson–Golabi–Behmel syndrome |
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| The National Niemann–Pick C1 disease database: Report of clinical features and health problems |
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| Familial unilateral deafness and delayed endolymphatic hydrops |
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| Bipolar affective disorder associated with 11q24.2 disruption—A second report |
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| Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mothe |
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| A triploid fetus further expands etiological heterogeneity in holoprosencephaly‐diencephalic hamartoblastoma |
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| Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia‐de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array‐based comparative genomic hybridization |
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| Book review |
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| First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation |
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| Editorial comment on the continuing importance of single case reports |
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| Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate |
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| Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative <i>PTPN11</i> mutations |
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| Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including <i>FMR1</i>, <i>FMR2</i>, and <i>IDS</i> in a female patient with mental retardation |
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| DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader‐Willi syndrome and a mouse model |
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| Associations of osseous abnormalities in Neurofibromatosis 1 |
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| Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006) |
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| Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype |
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| Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: Evidence for a mutational hot spot in the Indian hedgehog gene |
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| Recurrent interstitial deletions of proximal 18q: A new syndrome involving expressive speech delay |
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| Absence of <i>PITX2</i>, <i>BARX1</i>, and <i>FOXC1</i> mutations in De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephaly, hearing loss): A 25‐year follow up |
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| Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts |
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| The 19‐bp deletion polymorphism in intron‐1 of dihydrofolate reductase (<i>DHFR</i>) may decrease rather than increase risk for spina bifida in the Irish population |
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| Two Dutch brothers with Borrone dermato‐cardio‐skeletal syndrome |
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✓ |
✓ |
Italian; Dutch |
| Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes |
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| A non‐ancestral <i>RPGR</i> missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa |
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| Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: A 7‐year follow‐up |
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| Sotos syndrome is associated with leukemia/lymphoma |
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| Robert J. Gorlin as a humorist |
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| A novel <i>VEGFR3</i> mutation causes Milroy disease |
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| Response to “How Exhaustive Are Reviews in Research Review Articles?” |
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| Additional clinical manifestations in children with sensorineural hearing loss and biallelic<i>GJB2</i>mutations: Who should be offered<i>GJB2</i>testing? |
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| Scientific abstract submissions presented at the Second National Scientific Symposium in conjunction with the Cornelia de Lange Syndrome Foundation 25th National Meeting <i>June 22, 2006</i> |
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| Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification |
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| EEC syndrome, Arg227Gln <i>TP63</i> mutation and micturition difficulties: Is there a genotype–phenotype correlation? |
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| Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis |
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| Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the <i>HOXD</i> gene cluster |
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|
|
| Ovotestes and XY sex reversal in a female with an interstitial <i>9q33.3‐q34.1</i> deletion encompassing <i>NR5A1</i> and <i>LMX1B</i> causing features of genitopatellar syndrome |
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| Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1) |
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| Skewed X‐chromosome inactivation is associated with primary but not secondary ovarian failure |
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| Hyperhomocysteinemia and <i>MTHFR</i> polymorphisms in association with orofacial clefts and congenital heart defects: A meta‐analysis |
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| <i>MTHFR</i> and <i>RFC‐1</i> gene polymorphisms and the risk of Down syndrome in Italy. Author's response to the comments by Scala et al. [2007] |
|
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| Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings |
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| Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis |
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| Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X‐linked inheritance? |
|
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|
✓ |
✓ |
Kurdish population in Iran |
| Identification of a novel recessive <i>RELN</i> mutation using a homozygous balanced reciprocal translocation |
|
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✓ |
✓ |
Egyptian |
| The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history |
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| Partial trisomy of distal 19q detected by quantitative real‐time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay |
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| Response to “Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women” by Coppedè et al. [2006] |
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| Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome |
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| Familial multiple pterygium syndrome (MPS) is not associated with <i>CHRNG</i> gene mutation |
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| De novo trisomy 20p of paternal origin |
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| Al‐Awadi/Raas‐Rothschild syndrome: Two new cases and review |
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| Pituitary abnormalities in Prader–Willi syndrome and early onset morbid obesity |
|
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| Wide phenotypic variations within a family with <i>SALL1</i> mutations: Isolated external ear abnormalities to Goldenhar syndrome |
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| Compound heterozygosity for dominant and recessive <i>GJB2</i> mutations: Effect on phenotype and review of the literature |
|
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| Identification of three novel <i>TECTA</i> mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus |
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| Dandy‐Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33) |
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| How exhaustive are reviews in research review articles? |
|
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| Genetic counseling utilization by families with offspring affected by birth defects, Hawaii, 1986–2003 |
|
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| Contiguous deletion of the <i>NDP</i>, <i>MAOA</i>, <i>MAOB</i>, and <i>EFHC2</i> genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy |
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| On the spectrum of limb‐body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence |
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| Late‐onset cobalamin‐C disorder: A challenging diagnosis |
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| Laminectomies and achondroplasia: Does body mass index influence surgical outcomes? |
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| An 11q terminal deletion and tetralogy of Fallot |
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| Differential effects of trisomy on brain shape and volume in related aneuploid mouse models |
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| Lost in translation: Meaningful policies for writing about genetics and race |
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| Martsolf syndrome in Japanese siblings |
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|
✓ |
✓ |
Japanese |
| Barth syndrome associated with compound hemizygosity and heterozygosity of the <i>TAZ</i> and <i>LDB3</i> genes |
|
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| Compound heterozygosity of <i>SHOX</i>‐encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD) |
|
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| Cryptic duplication of 12q24.33 <b>→ </b>qter in a child with Angelman syndrome—simultaneous occurrence of two unrelated cytogenetic events |
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| Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system |
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| Fine–Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance |
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| Holt–Oram syndrome with right lung agenesis caused by a de novo mutation in the <i>TBX5</i> gene |
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| Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome |
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| Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the <i>FBN1</i> gene |
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| An oligonucleotide based array‐CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation |
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| Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome |
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| Novel oral findings in Schimmelpenning syndrome |
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| Spondylothoracic dysplasia: Prenatal diagnosis and the problems of nosologic overlap |
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| Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes |
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| Risk factors for poor bone health in adolescents and adults with CHARGE syndrome |
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| A genome‐wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11‐23 |
|
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|
|
✓ |
✓ |
Filipino; Philippines |
| What to call a syndrome |
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| Spinal extradural arachnoid cysts associated with distichiasis and lymphedema |
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| Reconnected by sign |
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| Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism |
|
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|
|
| Mutations in <i>GJB2</i>, <i>GJB6</i>, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment |
|
✓ |
|
|
|
|
✓ |
✓ |
African American, Caribbean Hispanic, AA, CH, Hispanic, minority admixture populations, non‐AA/CH et |
| Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases |
|
✓ |
|
|
|
|
✓ |
✓ |
Aboriginal; Cree/Ojibway ethnicity |
| Gastroschisis and associated defects: An international study |
|
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| Recurrent <i>SOX9</i> deletion campomelic dysplasia due to somatic mosaicism in the father |
|
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| Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA |
|
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| Screening and biochemical analysis of <i>GATA4</i> sequence variations identified in patients with congenital heart disease |
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| The ADULT‐EEC spectrum: An R280C mutation with a borderline phenotype |
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| Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGH |
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| “Zwilling” versus “Tai Chi” configuration of double‐sized ring chromosome |
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| Sequence variation in ultraconserved and highly conserved elements does not cause X‐linked mental retardation |
|
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|
| Race and ethnicity in genetic research |
|
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|
|
✓ |
✓ |
race; ethnicity; population terms; population |
| Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations |
|
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|
| Clinical and molecular cytogenetic characterization of two patients with non‐mutational aberrations of the <i>FMR2</i> gene |
|
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| Exclusion of <i>OGDH</i> and <i>BMP4</i> as candidate genes in two siblings with autosomal recessive DOOR syndrome |
|
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| On the selection of patients with developmental delay/mental retardation and autism spectrum disorders for genetic studies |
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| Epstein–Barr virus‐associated B‐cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome |
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Japanese |
| Monozygotic twins of Smith–Magenis syndrome |
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| Health insurance and chronic illness: Is anything helping? |
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| <i>FBN2</i>, <i>FBN1</i>, <i>TGFBR1</i>, and <i>TGFBR2</i> analyses in congenital contractural arachnodactyly |
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| Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts |
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| Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems |
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| Pulmonary disease is a component of distal arthrogryposis type 5 |
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| Over‐expression of <i>BMP4</i> and <i>BMP5</i> in a child with axial skeletal malformations and heterotopic ossification: A new syndrome |
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| Sudden Infant Death Syndrome: Review of implicated genetic factors |
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ethnic groups |
| A novel missense mutation in the <i>NDP</i> gene in a child with Norrie disease and severe neurological involvement including infantile spasms |
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| Malignant proliferating pilar tumors arising in KID syndrome: A report of two patients |
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| Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay |
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| An <i>Alu</i> retrotransposition‐mediated deletion of <i>CHD7</i> in a patient with CHARGE syndrome |
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| Invited comment: Gastroschisis |
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| Deletion of 7q31.1 supports involvement of <i>FOXP2</i> in language impairment: Clinical report and review |
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| Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation |
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| Contiguous gene deletion involving <i>L1CAM</i> and <i>AVPR2</i> causes X‐linked hydrocephalus with nephrogenic diabetes insipidus |
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| Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH |
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| Transmitted duplication of 12q21.32–12q22 includes 48 genes and has no apparent phenotypic consequences |
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| Interferon regulatory factor 6 (<i>IRF6</i>) and fibroblast growth factor receptor 1 (<i>FGFR1</i>) contribute to human tooth agenesis |
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| A new 3p interstitial deletion including the entire <i>MITF</i> gene causes a variation of Tietz/Waardenburg type IIA syndromes |
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| Genetic information: Special or not? Responses from focus groups with members of a health maintenance organization |
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| Methylation pattern at the KvDMR in a child with Beckwith–Wiedemann syndrome conceived by ICSI |
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| Vitreous phenotype: A key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity |
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| Trisomy 18: Fetal ultrasound findings at different gestational ages |
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| Oro‐dental features as useful diagnostic tool in Rubinstein–Taybi syndrome |
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| Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: A matched control study |
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| Pancreatitis as a manifestation of mitochondrial disorder |
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| Intractable diarrhea with “phenotypic anomalies” and tricho‐hepato‐enteric syndrome: Two names for the same disorder |
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| X‐linked retinoschisis in a female with a heterozygous <i>RS1</i> missense mutation |
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| DNA and the criminal justice system: The technology of justice. Edited by David Lazer. MIT Press, Cambridge, Massachusetts, 2004, 414 p. |
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| Delineation of the cryptic 1qter deletion phenotype |
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| Congenital arhinia: Molecular‐genetic analysis of five patients |
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| Disruption of a synaptotagmin (<i>SYT14</i>) associated with neurodevelopmental abnormalities |
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| Thyroid function studies in Prader–Willi syndrome |
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| Plasma obestatin and ghrelin levels in subjects with Prader–Willi syndrome |
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| Introductory comments—Special section: Prader–Willi syndrome |
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| Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome |
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Saudi |
| Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformation |
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| Access to health insurance: Experiences and attitudes of those with genetic versus non‐genetic medical conditions |
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| Associated anomalies in multi‐malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries |
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| Increasing knowledge of <i>PTEN</i> germline mutations: Two additional patients with autism and macrocephaly |
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| Increased rate of major birth malformations in infants with neonatal “asymmetric crying face”: A hospital‐based cohort study |
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| Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the <i>GJB2</i> gene and hearing loss |
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| Clinical hypochondroplasia in a family caused by a heterozygous double mutation in <i>FGFR3</i> encoding GLY380LYS |
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| Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43 |
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| Sydney crease frequency changes among the newborns and infants |
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| Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome |
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| A novel Gln358Glu mutation in ectodysplasin A associated with X‐linked dominant incisor hypodontia |
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| Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes |
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| A syndrome characterized by intra‐uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features |
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| Two cases further delineating the Sakoda complex |
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| Duplication 18q21.31‐q22.2 |
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| Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome |
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| Neural tube defects: From origin to treatment. Edited by Diego F. Wyszynski. Oxford University Press, 2006. 399 p. |
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| Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy |
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| IVIC syndrome Is caused by a c.2607delA mutation in the <i>SALL4</i> locus |
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| Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues |
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| Branchio‐oto‐renal syndrome |
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| Tricho‐hepato‐enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality |
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| Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of <i>FGF10</i> and <i>FGFR2</i> |
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| De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation |
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| A report on 10 new patients with heterozygous mutations in the <i>COL11A1</i> gene and a review of genotype–phenotype correlations in type XI collagenopathies |
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| Whole genome microarray analysis of gene expression in Prader–Willi syndrome |
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| Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity? |
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| Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci |
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| Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: New syndrome?† |
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✓ |
✓ |
Jordanian Arab |
| KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria |
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| Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH |
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| Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association |
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| De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies |
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| Development of gastroschisis: Review of hypotheses, a novel hypothesis, and implications for research |
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| Maternal serum screening and 22q11.2 deletion syndrome |
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| Long‐term follow‐up of a 26‐year‐old male with duplication of 16p: Clinical report and review |
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| Hypothyroidism‐retardation‐dysmorphism (HRD): Is there a new variant not caused by a TBCE mutation? |
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| Fetal and maternal<i>MTHFR C677T</i>genotype, maternal folate intake and the risk of nonsyndromic oral clefts |
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✓ |
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common in European populations |
| Germinal mosaicism and familial recurrence of a <i>SOX2</i> mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement |
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| Prenatal manifestation of pancytopenia in Pearson marrow‐pancreas syndrome caused by a mitochondrial DNA deletion |
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| A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature |
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