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Article

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

4 Mar 2009

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 19259134
DOI: 10.1038/ejhg.2009.13

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosisPMID 19259134Read ↗

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver‐Russell patientSemantic proximity Read ↗

Complete Paternal Isodisomy of Chromosome 17 in Junctional Epidermolysis Bullosa with Pyloric AtresiaSemantic proximity Read ↗

Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23)Semantic proximity Read ↗

Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient.Semantic proximity Read ↗

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.Semantic proximity Read ↗

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Semantic proximity Read ↗

Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.Semantic proximity Read ↗

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow upSemantic proximity Read ↗

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.Semantic proximity Read ↗

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.Semantic proximity Read ↗

Silver-Russell syndrome and exclusion of uniparental disomy.Semantic proximity Read ↗

Another rare prenatal case of post-zygotic mosaic trisomy 17.Semantic proximity Read ↗

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