نتایج جستجو برای: willi syndrome

تعداد نتایج: 622258  

Journal: :médecine/sciences 2015

Journal: :Journal of Intellectual Disability Research 2001

Journal: :International Journal of Obesity 2001

Journal: :Archives of Endocrinology and Metabolism 2020

2013
D. Wong S. M. Johnson D. Young L. Iwamoto S. Sood T. P. Slavin

The proximal q arm of chromosome 15 contains breakpoint regions BP1-BP5 with the classic deletion of BP1-BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features includ...

2016

PRADER-WILLI SYNDROME (PWS) and ANGELMAN SYNDROME (AS) are distinct neurogenetic disorders, both usually caused by chromosomal deletions on chromosome 15q11 or by uniparental disomy. The chromosomal alterations result in an aberrant expression profile of gene loci that are subject to imprinting. Absence of a paternal allele of chromosome 15q11, due to chromosomal deletion or uniparental disomy,...

Journal: :Journal of Sleep Research 1994

Journal: :The Journal of Clinical Endocrinology & Metabolism 2008

Journal: :Journal of Sleep Research 1993

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