Mosaic maternal uniparental isodisomy for chromosome 7q21-qter
- 10 August 2006
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 70 (3) , 207-213
- https://doi.org/10.1111/j.1399-0004.2006.00664.x
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndromeJournal of Medical Genetics, 2003
- Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?Journal of Medical Genetics, 2001
- Étude du gène CFTR chez 207 patients du Sud-Ouest de la France atteints de mucoviscidose : fréquence élevéedes mutations N1303K et 1811+1,6kbA>GArchives de Pédiatrie, 2001
- A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene RegionAmerican Journal of Human Genetics, 2001
- Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosisHuman Molecular Genetics, 1995
- Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardationHuman Molecular Genetics, 1995
- Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.Journal of Clinical Investigation, 1992
- Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.Proceedings of the National Academy of Sciences, 1990
- Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndromeNature, 1989
- A new genetic concept: Uniparental disomy and its potential effect, isodisomyAmerican Journal of Medical Genetics, 1980