Citation data

OpenCitations

Works that cite this article, indexed by OpenCitations.

11 resultsUpdated October 20, 2026
1

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

Human Molecular Genetics 32(3) (2022)

Hironori Bando; Michelle L Brinkmeier; Frederic Castinetti; Qing Fang; Mi-Sun Lee; Alexandru Saveanu; Frédérique Albarel; Clémentine Dupuis; Thierry Brue; Sally A Camper

2

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

3

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

4

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

5

Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis

Cureus (2021)

Sara Nunes; Marta Xavier; Cátia Lourenço; Mónica Melo; Cristina Godinho

6

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 J Paredes-Fuentes; Gemma Marfany; Rafael Artuch; Daniel Grinberg; Raquel Rabionet; Susanna Balcells; Roser Urreizti

7

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

Endocrine Reviews 43(1) (2021)

Alicia F Juriaans; Gerthe F Kerkhof; Anita C S Hokken-Koelega

8

MAGEL2 ‐related disorders: A study and case series

Clinical Genetics 96(6) (2019)

Jameson Patak; James Gilfert; Melissa Byler; Vamsee Neerukonda; Isabelle Thiffault; Laura Cross; Shivarajan Amudhavalli; Marta Pacio‐Miguez; Maria Palomares‐Bralo; Sixto Garcia‐Minaur; Fernando Santos‐Simarro; Zoe Powis; Wendy Alcaraz; Sha Tang; Julie Jurgens; Brenda Barry; Eleina England; Elizabeth Engle; Jonathon Hess; Robert R. Lebel

9

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

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

Louise C Gregory; Pratik Shah; Juliane R F Sanner; Monica Arancibia; Jane Hurst; Wendy D Jones; Helen Spoudeas; Polona Le Quesne Stabej; Hywel J Williams; Louise A Ocaka; Carolina Loureiro; Alejandro Martinez-Aguayo; Mehul T Dattani