about
G protein-coupled receptor-dependent development of human frontal cortexAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaHaploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeGenetic landmarks through philately--Henry Louis 'Lou' Gehrig and amyotrophic lateral sclerosis.Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeMutations in PIK3R1 cause SHORT syndromeIntracerebral hemorrhage in a young manBilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.Epilepsy in Aicardi-Goutières syndrome.Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.Origin and outcome of pregnancies affected by androgenetic/biparental chimerism.A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.Unique disease heritage of the Dutch-German Mennonite population.Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilot Study on a DNA-Based Newborn Screening ProgramPhenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literaturePrimary brain calcification: an international study reporting novel variants and associated phenotypesAtaxia, Delayed Dentition and Hypomyelination: A Novel LeukoencephalopathyBBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageGPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough SyndromeA locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageUnsolved recognizable patterns of human malformation: Challenges and opportunitiesIs PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disordersAuthor Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageis a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesX-chromosome inactivation is mostly random in placental tissues of female monozygotic twins and tripletsSome perinatal characteristics of monozygotic twins who are dichorionicInterstitial 4p deletion in a child with an Angelman syndrome-like phenotypeCostello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrierMolecular genetic testing and genetic counselingHomozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophyThe hutterite variant of Treacher Collins syndrome: a 28-year-old story solvedClinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research
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