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 …
[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 …
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 …
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 …
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 …
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 …
dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease …
The growth hormone receptor: mechanism of activation and clinical implications
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 …
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 …
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 …
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 …
expression of the paternally active genes in the PWS critical region on chromosome 15 …