نتایج جستجو برای: willi syndrome

تعداد نتایج: 622258  

Journal: :Nature Clinical Practice Endocrinology & Metabolism 2006

Journal: :Journal of Medical Genetics 1977

2013
Ashutosh Halder Manish Jain Isha Chaudhary Neerja Gupta Madhulika Kabra

BACKGROUND & OBJECTIVES Microdeletion syndromes are characterized by small (<5 Mb) chromosomal deletions in which one or more genes are involved. These are frequently associated with multiple congenital anomalies. The phenotype is the result of haploinsufficiency of genes in the critical interval. Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis...

Journal: :Canadian Anaesthetists’ Society Journal 1983

Journal: :Hormone Research in Paediatrics 2005

Journal: :Journal of Clinical Research in Pediatric Endocrinology 2014

Journal: :Expert opinion on orphan drugs 2023

Introduction Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression imprinted genes within 15q11-q13 region. It characterized by impaired hypothalamic development and function. Infants with PWS typically present hypotonia feeding difficulties, which in later stages childhood progress to hyperphagia, obesity, endocrine dysfunctions. ...

Journal: :The American Journal of Human Genetics 1999

Journal: :American Journal of Medical Genetics Part A 2007

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