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

Year Number of Results
1995 3
1996 1
1997 4
1998 12
1999 9
2000 18
2001 21
2002 22
2003 19
2004 24
2005 12
2006 15
2007 15
2008 10
2009 12
2010 13
2011 18
2012 15
2013 8
2014 14
2015 16
2016 7
2017 10
2018 20
2019 10
2020 15
2021 15
2022 16
2023 8
2024 1

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PubMed for id: 25942

356 results

Results by year

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Page 1
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, Skinner SA, Renck A, Matalon DR, Dills SK, Monteleone B, Demirdas S, Dingemans AJM, Donker Kaat L, Kolk SM, Pfundt R, Rump P, Sadikovic B, Kleefstra T, Butler KM. Coenen-van der Spek J, et al. Genet Med. 2023 Jan;25(1):63-75. doi: 10.1016/j.gim.2022.10.004. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399132 Free article.
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T. Balasubramanian M, et al. Eur J Hum Genet. 2021 Apr;29(4):625-636. doi: 10.1038/s41431-020-00769-7. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437032 Free PMC article.
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K. Narumi-Kishimoto Y, et al. Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26. Eur J Med Genet. 2019. PMID: 30267900 Free article. No abstract available.
SIN3A mutations are rare in men with azoospermia.
Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Minase G, Ueda Y, Namiki M, Sengoku K. Miyamoto T, et al. Andrologia. 2015 Nov;47(9):1083-5. doi: 10.1111/and.12379. Epub 2014 Nov 13. Andrologia. 2015. PMID: 25395209
356 results