Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome.

Atypical Prader-Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability.

Laparoscopic Treatment of Severe Gastroesophageal Reflux Disease (GERD) in Schaaf-Yang Syndrome: First Report of Toupet Fundoplication.

The Diagnostic and Therapeutic Challenges of Schaaf-Yang Syndrome: A Brazilian Case Report.

Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.

A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.

Roles of SNORD115 and SNORD116 ncRNA clusters during neuronal differentiation.

Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing.

Neuropeptide therapeutics to repress lateral septum neurons that disable sociability in an autism mouse model.

MAGEL2 (patho)physiology and Schaaf-Yang syndrome.

MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.

Acquiring Social Safety Engages Oxytocin Neurons in the Supraoptic Nucleus: Role of Magel2 Deficiency.

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

Variants of the GNAI1 gene manifest as Prader-Willi-like syndrome: Case report with literature review.

The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.

Morbidity and mortality in Schaaf-Yang syndrome.

[Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene].

Hormonal Imbalances in Prader-Willi and Schaaf-Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals.

Caregiver-based perception of disease burden in Schaaf-Yang syndrome.

Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.

Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.

Late-Onset Pyloric Stenosis and Intussusception With Final Diagnosis of Food Proteins' Hypersensitivity in Schaaf-Yang Syndrome: A Case Report.

Oxytocin receptors in the Magel2 mouse model of autism: Specific region, age, sex and oxytocin treatment effects.

Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome.

Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype-Phenotype Correlations.

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.

[Clinical and genetic analysis of a child with Schaaf-Yang syndrome].

Neonatal oxytocin gives the tempo of social and feeding behaviors.

Analysis of the hypothalamic oxytocin system and oxytocin receptor-expressing astrocytes in a mouse model of Prader-Willi syndrome.

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

A nationwide survey of Schaaf-Yang syndrome in Japan.

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).

Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis.

Endosomal Recycling Defects and Neurodevelopmental Disorders.

Copeptin: Utility in Paediatric Patients with Hyponatraemia.

The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.

Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory.

The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism.

Colon Transit Scintigraphy in Schaaf-Yang Syndrome.

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.

Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature.

A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome.

The impact of oxytocin on neurite outgrowth and synaptic proteins in Magel2-deficient mice.

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

The adult phenotype of Schaaf-Yang syndrome.

Emerging roles of the MAGE protein family in stress response pathways.

Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome.

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.

Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.

A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1.

A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.

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

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

MAGEL2-related disorders: A study and case series.

Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation.

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

[Schaaf-Yang syndrome caused by the new variation of MAGEL2 gene in a case].

Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

Schaaf-Yang syndrome overview: Report of 78 individuals.

The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.

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

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.

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

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

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

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

Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.

Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.

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

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

Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.

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

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene.

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