Prader-Willi syndrome-clinical genetics, diagnosis and treatment approaches: an update

MG Butler, JL Miller, JL Forster - Current pediatric reviews, 2019 - ingentaconnect.com
Background: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting
disorder with lack of expression of genes inherited from the paternal chromosome 15q11 …

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

MA Angulo, MG Butler, ME Cataletto - Journal of endocrinological …, 2015 - Springer
Abstract Introduction Prader-Willi syndrome (PWS) is a multisystemic complex genetic
disorder caused by lack of expression of genes on the paternally inherited chromosome …

Hypothalamic syndrome

HL Müller, M Tauber, EA Lawson, J Özyurt… - Nature reviews Disease …, 2022 - nature.com
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-
related injury to the hypothalamus, most commonly associated with rare, non-cancerous …

[HTML][HTML] Prader-willi syndrome

SB Cassidy, S Schwartz, JL Miller, DJ Driscoll - Genetics in medicine, 2012 - Elsevier
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and
failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; …

Assessment of child and adolescent overweight and obesity

NF Krebs, JH Himes, D Jacobson, TA Nicklas… - …, 2007 - publications.aap.org
Accurate appropriate assessment of overweight and obesity in children and adolescents is a
critical aspect of contemporary medical care. However, physicians and other health care …

Nutritional phases in Prader–Willi syndrome

JL Miller, CH Lynn, DC Driscoll… - American journal of …, 2011 - Wiley Online Library
Prader–Willi syndrome (PWS) is a complex neurobehavioral condition which has been
classically described as having two nutritional stages: poor feeding, frequently with failure to …

Prader–willi syndrome

SB Cassidy, DJ Driscoll - European journal of human genetics, 2009 - nature.com
Prader–Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body
systems whose most consistent major manifestations include hypotonia with poor suck and …

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

T Sahoo, D Del Gaudio, JR German, M Shinawi… - Nature …, 2008 - nature.com
Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed
imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple …

Prader–Willi syndrome and Angelman syndrome

K Buiting - American Journal of Medical Genetics Part C …, 2010 - Wiley Online Library
Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic
disorders in which imprinted genes on the proximal long arm of chromosome 15 are …

Recommendations for the diagnosis and management of Prader-Willi syndrome

AP Goldstone, AJ Holland, BP Hauffa… - The Journal of …, 2008 - academic.oup.com
Objective: The objective of the study was to provide recommendations for the diagnosis and
management of Prader-Willi syndrome throughout the life span to guide clinical practice …