Schaaf-Yang syndrome overview: Report of 78 individuals

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities

(2018) Takuji Enya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

(2018) Allan Bayat et al.   European Journal of Medical Genetics

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype ofMAGEL2-related disorders

(2018) Rebekah Jobling et al.   JOURNAL OF MEDICAL GENETICS

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

(2018) John M McCarthy et al.   JOURNAL OF MEDICAL GENETICS

Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?

(2018) Ronnaug Saeves et al.   Orphanet Journal of Rare Diseases

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

(2018) Wenjia Tong et al.   Scientific Reports

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example

(2017) María Palomares-Bralo et al.   GENETICS IN MEDICINE

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

(2017) Céline Bar et al.   Orphanet Journal of Rare Diseases

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

(2017) Roser Urreizti et al.   Scientific Reports

Evidence-based milestone ages as a framework for developmental surveillance

(2017) Cara F Dosman et al.   Paediatrics & Child Health

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

Muscle dysfunction caused by loss ofMagel2in a mouse model of Prader-Willi and Schaaf-Yang syndromes

(2016) Ain A. Kamaludin et al.   HUMAN MOLECULAR GENETICS

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

(2015) Dan Mejlachowicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation

(2014) Louise Kuhlmann et al.   BMC GASTROENTEROLOGY

Clinical phenotypes of MAGEL2 mutations and deletions

(2014) Karin Buiting et al.   Orphanet Journal of Rare Diseases

Growth Charts for Non-Growth Hormone Treated Prader-Willi Syndrome

(2014) M. G. Butler et al.   PEDIATRICS

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Epilepsy in Prader-Willi syndrome: experience of a national referral centre

(2013) Tal Gilboa et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Prader-Willi syndrome

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

Nutritional phases in Prader-Willi syndrome

(2011) Jennifer L. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variations in fetal phenotype in Prader-Willi syndrome

(2009) Guttorm Haugen et al.   PRENATAL DIAGNOSIS

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

(2008) Deniz Kanber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prader-Willi syndrome: is there a recognizable fetal phenotype?

(2008) Nicole Bigi et al.   PRENATAL DIAGNOSIS

Use of the ADOS and ADI-R in Children with Psychosis: Importance of Clinical Judgment

(2008) Judith A. Reaven et al.   Clinical Child Psychology and Psychiatry