Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader–Willi syndrome

(2021) Chih-Ping Chen et al.   Taiwanese Journal of Obstetrics & Gynecology

The Effects of Limosilactobacillus reuteri LR-99 Supplementation on Body Mass Index, Social Communication, Fine Motor Function, and Gut Microbiome Composition in Individuals with Prader–Willi Syndrome: a Randomized Double-Blinded Placebo-Controlled Trial

(2021) Xue-Jun Kong et al.   Probiotics and Antimicrobial Proteins

Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients

(2020) Lili Yang et al.   Orphanet Journal of Rare Diseases

Prader-Willi syndrome: molecular mechanism and epigenetic therapy

(2020) Zhong Mian-Ling et al.   CURRENT GENE THERAPY

Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years

(2020) Nantiya Mongkollarp et al.   Orphanet Journal of Rare Diseases

Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome

(2020) Xuefei Chen et al.   MEDICINE

A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

(2020) Igor Ribeiro Ferreira et al.   Scientific Reports

The 10q26 Risk Haplotype of Age-Related Macular Degeneration Aggravates Subretinal Inflammation by Impairing Monocyte Elimination

(2020) Fanny Beguier et al.   IMMUNITY

Sleep-disordered breathing and genetic findings in children with Prader-Willi syndrome in China

(2020) Aizhen Lu et al.   Annals of Translational Medicine

Oxytocin in young children with Prader‐Willi syndrome: Results of a randomized, double‐blind, placebo‐controlled, crossover trial investigating 3 months of oxytocin

(2020) Layla Damen et al.   CLINICAL ENDOCRINOLOGY

Intranasal oxytocin versus placebo for hyperphagia and repetitive behaviors in children with Prader-Willi Syndrome: A randomized controlled pilot trial

(2020) Eric Hollander et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing

(2019) Samantha N. Hartin et al.   Molecular Genetics & Genomic Medicine

A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

(2019) Igor Ribeiro Ferreira et al.   Molecular Genetics & Genomic Medicine

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

(2019) Raquel Corripio et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial

(2019) Aram Yang et al.   Orphanet Journal of Rare Diseases

Quality of life in caregivers of young children with Prader–Willi syndrome

(2019) Shu-Jiong Mao et al.   World Journal of Pediatrics

Bariatric surgery for Prader‐Willi syndrome was ineffective in producing sustainable weight loss: Long term results for up to 10 years

(2019) Shirley Yuk‐Wah Liu et al.   Pediatric Obesity

Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother

(2019) Dai Yang-Li et al.   INDIAN PEDIATRICS

Effect of topiramate on eating behaviours in Prader-Willi syndrome: TOPRADER double-blind randomised placebo-controlled study

(2019) Angèle Consoli et al.   Translational Psychiatry

Prader-Willi Syndrome Coincident with DiGeorge Syndrome

(2019) Xin-Yi Zou et al.   INDIAN JOURNAL OF PEDIATRICS

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

(2019) Yutaka Negishi et al.   Orphanet Journal of Rare Diseases

Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review

(2018) M. Greco et al.   EPILEPSY RESEARCH

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

(2018) Merlin G Butler et al.   JOURNAL OF MEDICAL GENETICS

Chronic diazoxide treatment decreases fat mass and improves endurance capacity in an obese mouse model of Prader-Willi syndrome

(2018) Jocelyn M. Bischof et al.   MOLECULAR GENETICS AND METABOLISM

DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients

(2018) Ellen Geets et al.   Obesity Research & Clinical Practice

Postępowanie u osób dorosłych z zespołem Pradera-Williego — co endokrynolog wiedzieć powinien. Stanowisko Polskiego Towarzystwa Endokrynologicznego i Polskiego Towarzystwa Endokrynologii i Diabetologii Dziecięcej

(2018) Magdalena Góralska et al.   Endokrynologia Polska

Pompe Disease: From Basic Science to Therapy

(2018) Lara Kohler et al.   Neurotherapeutics

Schaaf-Yang syndrome overview: Report of 78 individuals

(2018) John McCarthy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A review of psychiatric conceptions of mental and behavioural disorders in Prader-Willi syndrome

(2018) Joyce Whittington et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Myotonic dystrophy type 1

(2016) Cam-Tu Emilie Nguyen et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome

(2016) Jéssica Fernandes dos Santos et al.   MOLECULAR BIOLOGY REPORTS

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients

(2016) Ellen Geets et al.   MOLECULAR GENETICS AND METABOLISM

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

Autism spectrum disorder in Prader-Willi syndrome: A systematic review

(2015) Jeffrey A. Bennett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adults with Prader–Willi Syndrome have Weaker Bones: Effect of Treatment with GH and Sex Steroids

(2015) Silvia Longhi et al.   CALCIFIED TISSUE INTERNATIONAL

Growth patterns of Chinese patients with Prader-Willi syndrome

(2015) Hongbo Yang et al.   CONGENITAL ANOMALIES

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3

(2015) Yasmin Mehraein et al.   CYTOGENETIC AND GENOME RESEARCH

Growth patterns of Chinese patients with Prader-Willi syndrome

(2015) Hongbo Yang et al.   CONGENITAL ANOMALIES

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

(2015) M. A. Angulo et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

(2014) Eric Bieth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An open-label pilot study ofN-acetylcysteine for skin-picking in Prader-Willi syndrome

(2013) Jennifer L. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Long-term effects of recombinant human growth hormone therapy in children with Prader–Willi syndrome

(2013) Peter M. Wolfgram et al.   CURRENT OPINION IN PEDIATRICS

Clinical and genetic features of Prader-Willi syndrome in China

(2013) Wei Lu et al.   EUROPEAN JOURNAL OF PEDIATRICS

Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome

(2013) Cheri L. Deal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects

(2013) N. E. Bakker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Psychiatric Illness and Intellectual Disability in the Prader–Willi Syndrome with Different Molecular Defects - A Meta Analysis

(2013) Lin Yang et al.   PLoS One

Prader-Willi Syndrome: Obesity due to Genomic Imprinting

(2012) Merlin G. Butler   CURRENT GENOMICS

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

N-acetylcysteine decreased nicotine self-administration and cue-induced reinstatement of nicotine seeking in rats: comparison with the effects of N-acetylcysteine on food responding and food seeking

(2012) Ana M. Ramirez-Niño et al.   PSYCHOPHARMACOLOGY

Physical health problems in adults with Prader-Willi syndrome

(2011) Margje Sinnema et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Efficacy of modafinil on excessive daytime sleepiness in Prader-Willi syndrome

(2011) V. Cochen De Cock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

(2011) Soo-Jeong Kim et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Animal models of obsessive compulsive disorder: recent findings and future directions

(2011) Kurt Leroy Hoffman   Expert Opinion on Drug Discovery

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome

(2011) Rebecca S. Henkhaus et al.   Genetic Testing and Molecular Biomarkers

Long-Term Growth Hormone Therapy Changes the Natural History of Body Composition and Motor Function in Children with Prader-Willi Syndrome

(2010) Aaron L. Carrel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Health Supervision for Children With Prader-Willi Syndrome

(2010)   PEDIATRICS

Efficacy and Safety of Long-Term Continuous Growth Hormone Treatment in Children with Prader-Willi Syndrome

(2009) Roderick F. A. de Lind van Wijngaarden et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

(2009) Kana Hosoki et al.   JOURNAL OF PEDIATRICS

Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome

(2008) Merlin G. Butler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array

(2008) H.L. Newkirk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader–Willi syndrome

(2008) D. A. M. Festen et al.   CLINICAL ENDOCRINOLOGY

Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome

(2008) L M Holsen et al.   INTERNATIONAL JOURNAL OF OBESITY

Recommendations for the Diagnosis and Management of Prader-Willi Syndrome

(2008) A. P. Goldstone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The phenomenology and diagnosis of psychiatric illness in people with Prader–Willi syndrome

(2008) S. Soni et al.   PSYCHOLOGICAL MEDICINE

Pre-, peri- and postnatal complications in Prader–Willi syndrome in a UK sample

(2007) J.E. Whittington et al.   EARLY HUMAN DEVELOPMENT

Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized?

(2004) H-J Kim et al.   CLINICAL GENETICS