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Article

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.

European journal of medical genetics - 1 Jan 2000

Draaken Markus, Reutter Heiko, Schramm Charlotte, Bartels Enrika, Boemers Thomas M, Ebert Anne-Karoline, Rösch Wolfgang, Schröder Annette, Stein Raimund, Moebus Susanne, Stienen Dietlinde, Hoffmann Per, Nöthen Markus M, Ludwig Michael

Abstract excerpt

The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide l...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20060941
DOI: 10.1016/j.ejmg.2009.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20060941-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.PMID 20060941Read ↗

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.Semantic proximity Read ↗

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.Semantic proximity Read ↗

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionSemantic proximity Read ↗

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.Semantic proximity Read ↗

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial PhenotypesSemantic proximity Read ↗

The Genomic Architecture of Bladder Exstrophy Epispadias Complex.Semantic proximity Read ↗

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.Semantic proximity Read ↗

Clinical and molecular characterization of the bladder exstrophy‐epispadias complex: analysis of 232 familiesSemantic proximity Read ↗

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophySemantic proximity Read ↗

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.Semantic proximity Read ↗

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder ExstrophySemantic proximity Read ↗

Genome-wide linkage scan for bladder exstrophy-epispadias complex.Semantic proximity Read ↗

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