PubMed for Bookshelf ID: 4455130

Year	Number of Results
1989	1
1999	1
2003	2
2005	1
2006	2
2007	1
2008	2
2009	4
2010	2
2011	1
2012	2
2013	5
2014	7
2015	3
2016	4
2017	5
2018	1
2024	0

1

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Zarate YA, et al. Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 28787087 Review.

2

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

Schwartz E, Wilkens A, Noon SE, Krantz ID, Wu Y. Schwartz E, et al. Am J Med Genet A. 2017 Mar;173(3):809-812. doi: 10.1002/ajmg.a.38071. Am J Med Genet A. 2017. PMID: 28211976 No abstract available.

3

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J; UK10K Consortium; Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study, FitzPatrick DR. Bengani H, et al. Genet Med. 2017 Aug;19(8):900-908. doi: 10.1038/gim.2016.211. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151491 Free PMC article.

4

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB. Zarate YA, et al. Clin Genet. 2017 Oct;92(4):423-429. doi: 10.1111/cge.12982. Epub 2017 Mar 7. Clin Genet. 2017. PMID: 28139846

5

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

Zarate YA, Fish JL. Zarate YA, et al. Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774744 Free PMC article. Review.

6

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

Boone PM, Chan YM, Hunter JV, Pottkotter LE, Davino NA, Yang Y, Beuten J, Bacino CA. Boone PM, et al. Am J Med Genet A. 2016 Nov;170(11):3028-3032. doi: 10.1002/ajmg.a.37847. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27409069 Free PMC article.

7

Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.

Gregoric Kumperscak H, Krgovic D, Vokac NK. Gregoric Kumperscak H, et al. J Int Med Res. 2016 Apr;44(2):395-402. doi: 10.1177/0300060515595651. Epub 2016 Jan 25. J Int Med Res. 2016. PMID: 26811410 Free PMC article.

8

SATB2-associated syndrome presenting with Rett-like phenotypes.

Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH. Lee JS, et al. Clin Genet. 2016 Jun;89(6):728-32. doi: 10.1111/cge.12698. Epub 2016 Jan 19. Clin Genet. 2016. PMID: 26596517

9

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A. Zarate YA, et al. Am J Med Genet A. 2015 May;167A(5):1026-32. doi: 10.1002/ajmg.a.36849. Am J Med Genet A. 2015. PMID: 25885067

10

First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome.

Yu N, Shin S, Lee KA. Yu N, et al. Ann Lab Med. 2015 Mar;35(2):275-8. doi: 10.3343/alm.2015.35.2.275. Epub 2015 Feb 12. Ann Lab Med. 2015. PMID: 25729738 Free PMC article. No abstract available.

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