International Journal of Endocrinology and Metabolism
Research Institute for Endocrine Sciences
Scopus by Title (Ref)
Articles that cite the referenced work, matched by title from the Scopus database.
Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
Application of Clinical Genetics
2026
Pastucha D.
Open Access
Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies
Biomedicines
August 2025
Arzilli F.
Open Access
MAGEL2 (patho-)physiology and Schaaf–Yang syndrome
Developmental Medicine and Child Neurology
January 2025
Schubert T.
Open Access
Schaaf-yang syndrome: Clinical phenotype and effects of 4 years of growth hormone treatment
Hormone Research in Paediatrics
21 June 2023
Juriaans A.F.
Open Access
Advancing in Schaaf-Yang syndrome pathophysiology: From bedside to subcellular analyses of truncated MAGEL2
Journal of Medical Genetics
1 April 2023
Castilla-Vallmanya L.
Open Access
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
Human Molecular Genetics
1 February 2023
Bando H.
Open Access
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
February 2023
Xu N.
Open Access
Genotypic and phenotypic relationship between Prader-Willi and Prader-Willi-Like syndromes
Genetics and Molecular Research
2023
Fonseca L.L.C.G.
The Spectrum of the Prader-Willi-like Pheno-and Genotype: A Review of the Literature
Endocrine Reviews
1 February 2022
Juriaans A.F.
Open Access
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature
European Journal of Medical Genetics
August 2021
Halloun R.
Emerging roles of the MAGE protein family in stress response pathways
Journal of Biological Chemistry
20 November 2020
Florke Gee R.R.
Open Access
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
Orphanet Journal of Rare Diseases
2 December 2019
Negishi Y.
Open Access
Mutations in MAGEL2 and L1CAM Are Associated with Congenital Hypopituitarism and Arthrogryposis
Journal of Clinical Endocrinology and Metabolism
13 August 2019
Gregory L.C.
Open Access