0000000000286031

AUTHOR

Charlotte Schramm

showing 3 related works from this author

Microduplications At 22q11.21 are Associated with Classic Bladder Exstrophy

2010

Purpose Classic exstrophy of the bladder (CBE) is part of the exstrophy-epispadias complex (EEC), a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. Familial occurrence has been observed, and previous studies have suggested an underlying multifactorial mode of inheritance. To date, no causative genetic or non-genetic factor has been unequivocally identified in humans. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Material and Methods Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing …

Geneticsbusiness.industryUrologySingle-nucleotide polymorphismKaryotypemedicine.diseasePenetranceBladder exstrophyDiGeorge syndromePediatrics Perinatology and Child HealthGene duplicationChromosomal regionMedicineMultiplex ligation-dependent probe amplificationbusinessJournal of Pediatric Urology
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Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

2009

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 level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplifi…

AdultMaleChromosomes Human Pair 22MedizinMolecular Probe TechniquesSingle-nucleotide polymorphismBiologyBioinformaticsPolymorphism Single NucleotideChromosomesGene DuplicationDiGeorge syndromeGene duplicationGeneticsmedicineHumansGenetic Predisposition to DiseaseMultiplex ligation-dependent probe amplificationChildGenetics (clinical)GeneticsGene Expression ProfilingBladder ExstrophyGeneral Medicinemedicine.diseasePenetranceBladder exstrophyPhenotypeKaryotypingChromosomal regionFemaleSNP arrayEuropean Journal of Medical Genetics
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Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities

2014

Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) in both isolated and nonisolated ARM, and identified plausible candidate genes. Methods: In the present study, array-based molecular karyotyping was performed to identify causative CNVs in 32 sporadic ARM patients with comorbid abnormalities of the central nervous system (CNS). This phenotype was selected to enrich for rare CNVs, since previous research has implica…

EmbryologyCandidate genePathologymedicine.medical_specialtyMicrocephalyHaplotypeContext (language use)General MedicineBiologymedicine.diseaseBioinformaticsPhenotypeContiguous gene syndromePediatrics Perinatology and Child HealthmedicineCopy-number variationDevelopmental BiologySNP arrayBirth Defects Research Part A: Clinical and Molecular Teratology
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