32021601 34504512 35047255 30302899 30989085 30347474 30728968 33076953 34051361 36836222 36243518 31791363 31397880 30343463 35941105 31685878 29878108 34013972 34128869 30323850 30238631 - Search Results

Year	Number of Results
2018	5
2019	7
2020	3
2021	5
2022	2
2023	2

1

A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.

Xiao B, Ji X, Wei W, Hui Y, Sun Y. Xiao B, et al. Mol Syndromol. 2020 Jan;10(5):286-290. doi: 10.1159/000501376. Epub 2019 Jul 5. Mol Syndromol. 2020. PMID: 32021601 Free PMC article.

2

Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About.

Zhang K, Liu S, Gu W, Lv Y, Yu H, Gao M, Wang D, Zhao J, Li X, Gai Z, Zhao S, Liu Y, Yuan Y. Zhang K, et al. Front Genet. 2021 Aug 24;12:630650. doi: 10.3389/fgene.2021.630650. eCollection 2021. Front Genet. 2021. PMID: 34504512 Free PMC article.

3

Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis.

Nunes S, Xavier M, Lourenço C, Melo M, Godinho C. Nunes S, et al. Cureus. 2021 Dec 14;13(12):e20414. doi: 10.7759/cureus.20414. eCollection 2021 Dec. Cureus. 2021. PMID: 35047255 Free PMC article.

4

Schaaf-Yang syndrome overview: Report of 78 individuals.

McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. McCarthy J, et al. Am J Med Genet A. 2018 Dec;176(12):2564-2574. doi: 10.1002/ajmg.a.40650. Epub 2018 Oct 10. Am J Med Genet A. 2018. PMID: 30302899 Free PMC article.

5

Preclinical Testing in Translational Animal Models of Prader-Willi Syndrome: Overview and Gap Analysis.

Carias KV, Wevrick R. Carias KV, et al. Mol Ther Methods Clin Dev. 2019 Mar 14;13:344-358. doi: 10.1016/j.omtm.2019.03.001. eCollection 2019 Jun 14. Mol Ther Methods Clin Dev. 2019. PMID: 30989085 Free PMC article. Review.

6

Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.

Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J. Baraghithy S, et al. J Bone Miner Res. 2019 Jan;34(1):93-105. doi: 10.1002/jbmr.3591. Epub 2018 Oct 22. J Bone Miner Res. 2019. PMID: 30347474 Free article.

7

Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes.

Salminen II, Crespi BJ, Mokkonen M. Salminen II, et al. SAGE Open Med. 2019 Jan 28;7:2050312118823585. doi: 10.1177/2050312118823585. eCollection 2019. SAGE Open Med. 2019. PMID: 30728968 Free PMC article. Review.

8

The adult phenotype of Schaaf-Yang syndrome.

Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.

9

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.

10

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

Xu N, Shi W, Cao X, Zhou X, Huang H, Chen S, Xu C. Xu N, et al. J Clin Med. 2023 Feb 20;12(4):1688. doi: 10.3390/jcm12041688. J Clin Med. 2023. PMID: 36836222 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

21 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year