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 …

[HTML][HTML] 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 …

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 …

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 …

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 …

[HTML][HTML] Autoimmune thyroid disease in specific genetic syndromes in childhood and adolescence

EM Kyritsi, C Kanaka-Gantenbein - Frontiers in endocrinology, 2020 - frontiersin.org
Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid
dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease …

The growth hormone receptor: mechanism of activation and clinical implications

AJ Brooks, MJ Waters - Nature Reviews Endocrinology, 2010 - nature.com
Growth hormone is widely used clinically to promote growth and anabolism and for other
purposes. Its actions are mediated via the growth hormone receptor, both directly by tyrosine …

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 …

[HTML][HTML] Obesity in Prader–Willi syndrome: Physiopathological mechanisms, nutritional and pharmacological approaches

G Muscogiuri, L Barrea, F Faggiano… - Journal of …, 2021 - Springer
Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of
genes on the paternally inherited chromosome 15q11. 2-q13 region. The three main genetic …

Obesity management in Prader–Willi syndrome: Current perspectives

A Crinò, D Fintini, S Bocchini… - … , metabolic syndrome and …, 2018 - Taylor & Francis
Prader–Willi syndrome (PWS) is a complex multisystem disorder due to the absent
expression of the paternally active genes in the PWS critical region on chromosome 15 …