Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a genetic disorder caused due to the absent expression of a set of genes on chromosome 15. Here is the latest research on this complex multisystem disorder.

June 12, 2020

Measures of nocturnal oxyhemoglobin desaturation in children with neuromuscular disease or Prader-Willi syndrome

Pediatric Pulmonology
Athanasios G KaditisChristina Kanaka-Gantenbein
June 25, 2020

IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies

Advances in Neurobiology
Noelle D GermainStormy J Chamberlain
April 23, 2020
Open Access

CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review

Linn Amanda SydingRadislav Sedlacek
July 7, 2020
Open Access

Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing

Molecular Medicine Reports
Fen-Xia LiXue-Xi Yang
May 13, 2020

Imprinting disorders in children born after ART: a Nordic study from the CoNARTaS group

Human Reproduction
A A HenningsenØ Lidegaard
July 6, 2020
Case Report

Successful treatment of facial hypertrophic scar with HMME-PDT: A case report

Photodiagnosis and Photodynamic Therapy
Jinru SongXiaoliang Zhu
May 5, 2020
Open Access

Loss of Snord116 impacts lateral hypothalamus, sleep and food-related behaviors

JCI Insight
Marta PaceValter Tucci
May 16, 2020
Open Access

Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis

BMJ Paediatrics Open
Caroline de Gouveia Buff PassoneWanderley Marques Bernardo
April 22, 2020
Case Report
Open Access

Efficacy of sodium-glucose cotransporter 2 inhibitor with glucagon-like peptide-1 receptor agonist for the glycemic control of a patient with Prader-Willi syndrome: a case report

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology
Hitomi SanoNobuaki Kawamura
June 7, 2020

Effects of triceps surae fatigue and weight training level on gait variability and local stability in young adults

Medical & Biological Engineering & Computing
Georgia Cristina Schabbach LehnenMarcus Fraga Vieira
June 2, 2020
Open Access

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics
Merlin G Butler, Jessica Duis
May 19, 2020

Colocalization of Oxtr with Prader-Willi Syndrome transcripts in the trigeminal ganglion of neonatal mice

Human Molecular Genetics
Radhika VaidyanathanElizabeth A D Hammock
May 20, 2020

Loss of Snord116 alters cortical neuronal activity in mice: a pre-clinical investigation of Prader-Willi syndrome

Human Molecular Genetics
Marta PaceValter Tucci
June 5, 2020
Open Access

A pro-inflammatory phenotype is associated with behavioural traits in children with Prader-Willi syndrome

European Child & Adolescent Psychiatry
Maja KrefftBłażej Misiak
May 27, 2020

Prader-Willi Syndrome: Role of Bariatric Surgery in Two Adolescents with Obesity

Obesity Surgery
Marina TripodiAdriana Franzese

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