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 …

Genetics of obesity in humans: a clinical review

R Mahmoud, V Kimonis, MG Butler - International journal of molecular …, 2022 - mdpi.com
Obesity is a complex multifactorial disorder with genetic and environmental factors. There is
an increase in the worldwide prevalence of obesity in both developed and developing …

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 …

[HTML][HTML] Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells

WK Huang, SZH Wong, SR Pather, PTT Nguyen… - Cell stem cell, 2021 - cell.com
Human brain organoids represent remarkable platforms for recapitulating features of human
brain development and diseases. Existing organoid models do not resolve fine brain …

[HTML][HTML] Genetic and epigenetic causes of obesity

VV Thaker - Adolescent medicine: state of the art reviews, 2017 - ncbi.nlm.nih.gov
Obesity is a complex, heritable trait influenced by the interplay of genetics, epigenetics,
metagenomics and the environment. With the increasing access to high precision diagnostic …

Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction

M Tauber, C Hoybye - The Lancet Diabetes & Endocrinology, 2021 - thelancet.com
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss
of expression of maternally imprinted genes located in the paternal chromosomal region …

Rare genetic forms of obesity: clinical approach and current treatments in 2016

H Huvenne, B Dubern, K Clément, C Poitou - Obesity facts, 2016 - karger.com
Obesity results from a synergistic relationship between genes and the environment. The
phenotypic expression of genetic factors involved in obesity is variable, allowing to …

[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; …

Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome

CL Deal, M Tony, C Höybye, DB Allen… - The Journal of …, 2013 - academic.oup.com
Context: Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been
used by the medical community and advocated by parental support groups since its …

Etiologies and early diagnosis of short stature and growth failure in children and adolescents

AD Rogol, GF Hayden - The Journal of pediatrics, 2014 - Elsevier
Accurate measurement of height and weight using standardized techniques is a
fundamental component of pediatric medical visits. Calculation of height velocity over time …