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Article

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

28 Jul 2004

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15290238
DOI: 10.1007/s00439-004-1156-0

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Related research

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Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1PMID 15290238Read ↗

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.Semantic proximity Read ↗

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.Semantic proximity Read ↗

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser SyndromeSemantic proximity Read ↗

Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype.Semantic proximity Read ↗

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.Semantic proximity Read ↗

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.Semantic proximity Read ↗

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Semantic proximity Read ↗

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.Semantic proximity Read ↗

Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.Semantic proximity Read ↗

[Record no. 34: hSNF5/INI1 (SMARCB1)].Semantic proximity Read ↗

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.Semantic proximity Read ↗

Genetics: SMARCA4 mutated in SCCOHT.Semantic proximity Read ↗

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