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 …
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 …
disorder caused by lack of expression of genes on the paternally inherited chromosome …
[HTML][HTML] Reverse-translational identification of a cerebellar satiation network
AYT Low, N Goldstein, JR Gaunt, KP Huang… - Nature, 2021 - nature.com
The brain is the seat of body weight homeostasis. However, our inability to control the
increasing prevalence of obesity highlights a need to look beyond canonical feeding …
increasing prevalence of obesity highlights a need to look beyond canonical feeding …
[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; …
failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; …
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 …
systems whose most consistent major manifestations include hypotonia with poor suck and …
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
HC Mefford, H Muhle, P Ostertag, S von Spiczak… - PLoS …, 2010 - journals.plos.org
Epilepsy is one of the most common neurological disorders in humans with a prevalence of
1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …
1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …
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 …
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 …
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 …
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 …
language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures …