Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2000.580406.x/fullpdf
Reference12 articles.
1. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes;Reis;Am J Hum Genet,1994
2. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region;Sutcliffe;Nature Genet,1994
3. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15;Buiting;Nature Genet,1995
4. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations;Saitoh;Proc Natl Acad Sci USA,1996
5. Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation;Ohta;Am J Hum Genet,1999
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3. Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review;American Journal of Medical Genetics Part A;2018-02-13
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