[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; …

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 …

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 …

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 …

Prader-Willi syndrome.

SB Cassidy - Journal of medical genetics, 1997 - jmg.bmj.com
Prader-Willi syndrome is a complex disorder affecting multiple systems with many
manifestations relating to hypothalamic insufficiency. Major findings include infantile …

The 15q11. 2 BP1–BP2 microdeletion syndrome: a review

DM Cox, MG Butler - International journal of molecular sciences, 2015 - mdpi.com
Patients with the 15q11. 2 BP1–BP2 microdeletion can present with developmental and
language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures …

[HTML][HTML] Prader-willi syndrome

DJ Driscoll, JL Miller, S Schwartz, SB Cassidy - 2017 - europepmc.org
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in
early infancy, followed in later infancy or early childhood by excessive eating and gradual …

The comorbidity of autism with the genomic disorders of chromosome 15q11. 2-q13

A Hogart, D Wu, JM LaSalle, NC Schanen - Neurobiology of disease, 2010 - Elsevier
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various
forms of stereotyped deletions and duplication events that cause a group of …

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

DC Bittel, MG Butler - Expert reviews in molecular medicine, 2005 - cambridge.org
Prader–Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of
expression of paternally inherited genes known to be imprinted and located in the …

Health supervision for children with Prader-Willi syndrome

SE McCandless, Committee on Genetics - Pediatrics, 2011 - publications.aap.org
This set of guidelines was designed to assist the pediatrician in caring for children with
Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing …