Associated Papers
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.
Vlachavas EI et al.
Molecular Oncology, 2025
MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.
Schubert T et al.
Developmental Medicine and Child Neurology, 2025
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.
Centeno-Pla M et al.
Journal of Medical Genetics, 2024
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D et al.
American Journal of Human Genetics, 2024
Caregiver-based perception of disease burden in Schaaf-Yang syndrome.
Dötsch L et al.
Molecular Genetics & Genomic Medicine, 2023
Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.
Huang Z et al.
Annals of Translational Medicine, 2023
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L et al.
Journal of Medical Genetics, 2023
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism.
Sanderson MR et al.
The Journal of Biological Chemistry, 2021
Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.
Duan Y et al.
Medicine, 2021
Emerging roles of the MAGE protein family in stress response pathways.
Florke Gee RR et al.
The Journal of Biological Chemistry, 2020
Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.
Chen X et al.
Medicine, 2020
Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations.
Guo W et al.
Human Mutation, 2020
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
Ieda D et al.
Plos One, 2020
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
MAGEL2-related disorders: A study and case series.
Patak J et al.
Clinical Genetics, 2019
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation.
Guo W et al.
Science China. Life Sciences, 2019
Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J et al.
American Journal of Medical Genetics. Part A, 2018
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R et al.
Scientific Reports, 2017
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Mejlachowicz D et al.
American Journal of Human Genetics, 2015