Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1–2 (BP1–BP2) in a large cohort of samples referred for genetic diagnosis
Author:
Funder
OPERA Grant from BITS Pilani.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-018-0543-7.pdf
Reference18 articles.
1. Pujana MA, Nadal M, Guitart M, Armengol L, Gratacòs M, Estivill X. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet. 2002;10:26–35.
2. Locke DP, Segraves R, Nicholls RD,Schwartz S, Pinkel D, Albertson DG,Eichler EE. BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications. J Med Genet. 2004;41:175–82.
3. Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome type I or type II deletion and maternal disomy. Pediatrics. 2004;113:565–73.
4. Cox DM, Butler MG. The 15q11.2 BP1-BP2 microdeletion syndrome: a review. Int J Mol Sci. 2015;16:4068–82.
5. Cafferkey M, Ahn JW, Flinter F, Ogilvie C. Phenotypic features in patients with15q11.2(BP1-BP2) Deletion: Further Delineation of an Emerging Syndrome. Am J Med Genet. 2014;164A:1916–22.
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