A rapid microarray based whole genome analysis for detection of uniparental disomy
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Murat Bastepe | Thomas Eggermann | Andreas Dufke | Sven Poths | Olaf Riess | Michael Bonin | A. Dufke | U. Mau-Holzmann | T. Eggermann | S. Poths | O. Riess | M. Bonin | M. Bastepe | L. Colleaux | G. Gillessen‐kaesbach | V. Cormier-Daire | Laurence Colleaux | Ö. Altug‐Teber | Özge Altug‐Teber | Ulrike Angelika Mau‐Holzmann | Valérie Cormier‐Daire | Gabriele Gillessen‐Kaesbach | G. Gillessen‐Kaesbach
[1] K. Zerres,et al. Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) , 2001, Journal of medical genetics.
[2] S. P. Fodor,et al. Large-scale genotyping of complex DNA , 2003, Nature Biotechnology.
[3] Eleftheria Zeggini,et al. Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites. , 2004, American journal of human genetics.
[4] K. Zerres,et al. Uniparental disomy: clinical indications for testing in growth retardation , 2002, European Journal of Pediatrics.
[5] E. Engel,et al. A new genetic concept: uniparental disomy and its potential effect, isodisomy. , 1980, American journal of medical genetics.
[6] Leonid Kruglyak,et al. The use of a genetic map of biallelic markers in linkage studies , 1997, Nature Genetics.
[7] R. Skoda,et al. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. , 1989, American journal of human genetics.
[8] M. Schmid,et al. Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review , 1997, Human Genetics.
[9] D. Ledbetter,et al. Uniparental disomy as a mechanism for human genetic disease. , 1988, American journal of human genetics.
[10] D. Kotzot. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. , 1999, American journal of medical genetics.
[11] J. Knoll,et al. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome , 1989, Nature.
[12] B. Popovich,et al. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. , 1997, American journal of human genetics.
[13] M. Pembrey,et al. Uniparental paternal disomy in Angelman's syndrome , 1991, The Lancet.
[14] T. Eggermann,et al. Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. , 2000, Annales de genetique.
[15] R. Redon,et al. Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation , 2004, Clinical genetics.
[16] W P Robinson,et al. Mechanisms leading to uniparental disomy and their clinical consequences , 2000, BioEssays : news and reviews in molecular, cellular and developmental biology.
[17] C. Junien,et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome , 1991, Nature.
[18] M. Daly,et al. Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. , 2004, American journal of human genetics.
[19] H. Jüppner,et al. Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. , 2001, American journal of human genetics.
[20] D. Ledbetter,et al. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15 , 2000, Clinical genetics.
[21] D. Kotzot,et al. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements , 2001, Journal of medical genetics.
[22] D. Kotzot. Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. , 2002, American journal of medical genetics.