Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 1
2019 1
2020 3
2021 1
2022 2
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.
Chen X, Ma X, Zou C. Chen X, et al. Medicine (Baltimore). 2020 Jul 17;99(29):e20574. doi: 10.1097/MD.0000000000020574. Medicine (Baltimore). 2020. PMID: 32702813 Free PMC article. Review.
RATIONALE: Schaaf-Yang syndrome, a rare imprinted hereditary disease caused by MAGEL2 variants, manifests as developmental delay/intellectual disability, neonatal hypotonia, feeding difficulties, contractures, and autism spectrum disorder. ...LESSONS: Our res …
RATIONALE: Schaaf-Yang syndrome, a rare imprinted hereditary disease caused by MAGEL2 variants, manifests as developmen …
The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.
Camerino C. Camerino C. Int J Mol Sci. 2024 Feb 8;25(4):2066. doi: 10.3390/ijms25042066. Int J Mol Sci. 2024. PMID: 38396741 Free PMC article. Review.
Oxytocin (Oxt) regulates thermogenesis, and altered thermoregulation results in Prader-Willi syndrome (PWS), Schaaf-Yang syndrome (SYS), and Autism spectrum disorder (ASD). PWS is a genetic disorder caused by the deletion of the paternal allele of 15q11-q13, …
Oxytocin (Oxt) regulates thermogenesis, and altered thermoregulation results in Prader-Willi syndrome (PWS), Schaaf-Yang sy
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature.
Halloun R, Habib C, Ekhilevitch N, Weiss R, Tiosano D, Cohen M. Halloun R, et al. Eur J Med Genet. 2021 Aug;64(8):104252. doi: 10.1016/j.ejmg.2021.104252. Epub 2021 May 27. Eur J Med Genet. 2021. PMID: 34051361 Review.
Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene. ...Persistent hyperinsulinism was only described in two siblings and responded to diazoxide treatment. We describe a unique case of an infant with Sch
Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene. ...Persistent
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS. Juriaans AF, et al. Endocr Rev. 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. Endocr Rev. 2022. PMID: 34460908 Review.
The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf-Yang syndrome (truncating mutation in the MAGEL2 gene), 1p36 deletion, 2p deletion, 6q deletion, 6q duplication, 15q deletion, 15q duplication, 1 …
The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf-Yang synd
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L. Buers I, et al. Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16. Clin Genet. 2020. PMID: 31497877 Review.
Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (NALCN), Chitayat-Hall/Schaaf-Yang syndrome (MAGEL2), and early infantile epileptic encephalopa …
Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and devel …
Emerging roles of the MAGE protein family in stress response pathways.
Florke Gee RR, Chen H, Lee AK, Daly CA, Wilander BA, Fon Tacer K, Potts PR. Florke Gee RR, et al. J Biol Chem. 2020 Nov 20;295(47):16121-16155. doi: 10.1074/jbc.REV120.008029. Epub 2020 Sep 13. J Biol Chem. 2020. PMID: 32921631 Free PMC article. Review.
Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.
Tacer KF, Potts PR. Tacer KF, et al. Biochem J. 2017 Jun 16;474(13):2177-2190. doi: 10.1042/BCJ20160616. Biochem J. 2017. PMID: 28626083 Free PMC article. Review.
It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fund …
It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) …