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17 resultsUpdated October 23, 2026

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MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome

Developmental Medicine & Child Neurology 67(1) (2024)

Tim Schubert; Christian Patrick Schaaf

Emerging roles of the MAGE protein family in stress response pathways

Journal of Biological Chemistry 295(47) (2020)

Rebecca R. Florke Gee; Helen Chen; Anna K. Lee; Christina A. Daly; Benjamin A. Wilander; Klementina Fon Tacer; Patrick Ryan Potts

MAGEL2 ‐related disorders: A study and case series

Clinical Genetics 96(6) (2019)

Jameson Patak; James Gilfert; Melissa C. Byler; Vamsee K. Neerukonda; Isabelle Thiffault; Laura Cross; Shivarajan Manickavasagam Amudhavalli; Marta Pacio Miguez; María Palomares‐Bralo; Sixto García‐Miñáur; Fernando Santos‐Simarro; Zöe Powis; Wendy A. Alcaraz; Sha Tang; Julie A. Jurgens; Brenda J. Barry; Eleina M. England; Elizabeth C. Engle; Jonathon Hess; Robert Roger Lebel

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

The Journal of Clinical Endocrinology & Metabolism 104(12) (2019)

Louise Cheryl Gregory; Pratik Shah; Juliane Rf Sanner; Mónica Arancibia; Jane A. Hurst; Wendy D. Jones; Helen Alexandra Spoudeas; Polona Le Quesne Stabej; Hywel J. Williams; Louise Ocaka; Carolina Loureiro; Alejandro Martínez‐Aguayo; Mehul Dattani

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

Orphanet Journal of Rare Diseases 14(1) (2019)

Yutaka Negishi; Daisuke Ieda; Ikumi Hori; Yasuyuki Nozaki; Takanori Yamagata; Hirofumi Komaki; Jun Tohyama; Keisuke Nagasaki; Hiroko Tada; Shinji Saitoh

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

Endocrine Reviews 43(1) (2021)

Alicia F. Juriaans; Gerthe Femke Kerkhof; Anita Hokken-Koelega

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

Journal of Medical Genetics 60(4) (2022)

Laura Castilla‐Vallmanya; Mónica Centeno-Pla; Mercedes Serrano; Héctor Franco‐Valls; Raúl Martínez-Cabrera; Aina Prat-Planas; Elena Rojano; Juan A. G. Ranea; Pedro Seoane; Clara Oliva; Abraham José Paredes-Fuentes; Gemma Marfany; Rafael Artuch; Daniel Grinberg; Raquel Rabionet; Susana Balcells; Roser Urreizti

Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies

Biomedicines 13(8) (2025)

Federica Arzilli; Giulia De Fortuna; Ignazio Cammisa; Luca Vagnozzi; Giorgio Sodero; Donato Rigante; Clelia Cipolla

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

Human Molecular Genetics 32(3) (2022)

Hironori Bando; Michelle Lynn Brinkmeier; Frédéric Castinetti; Qing Fang; Mi‐Sun Lee; Alexandru Saveanu; F. Albarel; Clémentine Dupuis; Thierry Christian Brue; Sally Ann Camper

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

European Journal of Medical Genetics 64(8) (2021)

Rana Halloun; Clair Habib; Nina Ekhilevitch; Ram Weiss; Dov Tiosano; Michal Cohen

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

Annals of Translational Medicine 11(9) (2023)

Zhongwen Huang; Wei Lu; Ping Zhang; Yulan Lu; Liping Chen; Wenqing Kang; Lin Yang; Gang Li; Jitao Zhu; Bingbing Wu; Wenhao Zhou; Huijun Wang

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

Journal of Clinical Medicine 12(4) (2023)

Naixin Xu; Weihui Shi; Xianling Cao; Xuanyou Zhou; Hefeng Huang; Songchang Chen; Chenming Xu

Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient

The Application of Clinical Genetics Volume 19 (2026)

Dalibor Pastucha; Darina Aleksijevic; Jiří Hyjánek; Ondrej Vesely; E. Klaskova; Kristýna Kolaříková; Radek Vodička