Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
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Begemann, Matthias
One or more keywords matched the following items that are connected to Begemann, Matthias
Item TypeName
Academic Article The maternal uniparental disomy of chromosome 6?(upd(6)mat) "phenotype": result of placental trisomy?6?mosaicism?
Academic Article Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Academic Article A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.
Academic Article Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Academic Article Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.
Academic Article Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Concept Phenotype
Academic Article Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Academic Article Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.
Academic Article Molecular characterization of temple syndrome families with 14q32 epimutations.
Academic Article One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Academic Article Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.
Academic Article Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.
Academic Article Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
Academic Article Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Academic Article Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.
Academic Article Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
Academic Article Paternally Inherited IGF2 Mutation and Growth Restriction.
Academic Article Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
Academic Article Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.
Academic Article Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.
Academic Article Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

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