about
Eight previously unidentified mutations found in the OA1 ocular albinism geneThe phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSpectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientA human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyLarge-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesClinical and molecular phenotype of Aicardi-Goutieres syndromeMutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateProgressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutationMutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthMolecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationRefined localisation of the voltage-gated chloride channel, CLCN3, to 4q33Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humansHeterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseMutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityThe 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsGenotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsA 22-year French experience with solid tumors in children with Down syndrome.Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics.Leber's optic neuropathy associated with disseminated white matter disease: a case report and review.Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGHIdentification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeThe gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthA second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
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Frans onderzoeker
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