Similar articles for PMID: 32021601

Year	Number of Results
1993	1
1994	1
1996	1
1997	1
1999	1
2000	1
2001	2
2005	1
2007	2
2008	1
2009	1
2010	1
2012	2
2013	3
2014	3
2015	9
2016	10
2017	11
2018	13
2019	11
2020	6
2021	5
2022	2
2023	4
2024	0

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

Schaaf-Yang Syndrome.

Schaaf CP, Marbach F. Schaaf CP, et al. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33570896 Free Books & Documents. Review.

3

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T. Enya T, et al. Am J Med Genet A. 2018 Mar;176(3):707-711. doi: 10.1002/ajmg.a.38606. Epub 2018 Jan 23. Am J Med Genet A. 2018. PMID: 29359444

4

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. Fountain MD, et al. Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Genet Med. 2017. PMID: 27195816 Free PMC article.

5

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J. Mejlachowicz D, et al. Am J Hum Genet. 2015 Oct 1;97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365340 Free PMC article.

6

Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome.

Alavanda C, Arslan Ateş E, Yavaş Abalı Z, Geçkinli BB, Turan S, Arman A. Alavanda C, et al. Clin Genet. 2023 Jul;104(1):127-132. doi: 10.1111/cge.14320. Epub 2023 Mar 9. Clin Genet. 2023. PMID: 36843439

7

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.

Crutcher E, Pal R, Naini F, Zhang P, Laugsch M, Kim J, Bajic A, Schaaf CP. Crutcher E, et al. Sci Rep. 2019 Nov 4;9(1):15935. doi: 10.1038/s41598-019-52287-2. Sci Rep. 2019. PMID: 31685878 Free PMC article.

8

Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

Ahn H, Seo GH, Oh A, Lee Y, Keum C, Heo SH, Kim T, Choi J, Kim GH, Ko TS, Yum MS, Lee BH, Choi IH. Ahn H, et al. Medicine (Baltimore). 2020 Dec 18;99(51):e23864. doi: 10.1097/MD.0000000000023864. Medicine (Baltimore). 2020. PMID: 33371171 Free PMC article.

9

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.

Ieda D, Negishi Y, Miyamoto T, Johmura Y, Kumamoto N, Kato K, Miyoshi I, Nakanishi M, Ugawa S, Oishi H, Saitoh S. Ieda D, et al. PLoS One. 2020 Aug 17;15(8):e0237814. doi: 10.1371/journal.pone.0237814. eCollection 2020. PLoS One. 2020. PMID: 32804975 Free PMC article.

10

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.

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