A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review |
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Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency |
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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis |
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The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications |
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The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome |
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The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). |
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Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation |
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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities |
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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. |
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A family with autosomal dominant oculo-auriculo-vertebral spectrum |
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Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation |
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Frequency and characterization of DNA methylation defects in children born SGA. |
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Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome |
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Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia |
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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation |
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome |
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Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap |
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HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome |
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly |
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Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome |
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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling |
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Identification of mutations in CUL7 in 3-M syndrome |
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Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces |
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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction |
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance |
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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival |
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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features |
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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice |
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Missense exchanges in the TTBK2 gene mutated in SCA11. |
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Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation |
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Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature |
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"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene |
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies |
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Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome |
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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation |
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Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability |
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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway |
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A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype |
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Nicolaides-Baraitser syndrome: Delineation of the phenotype |
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Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. |
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Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans |
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Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome |
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De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome |
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Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts |
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Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy children |
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Prader-Willi-Syndrom eine klinisch-genetische Analyse |
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Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases |
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RAD21 mutations cause a human cohesinopathy |
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A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome |
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SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome |
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Somatic mosaicism in patients with Angelman syndrome and an imprinting defect |
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Syndrome identification based on 2D analysis software |
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Untersuchungen zur Bestimmung des freien Cortisols im Serum |
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