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Items: 1 to 20 of 113

1.

Further delineation of the SATB2 phenotype.

Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D.

Eur J Hum Genet. 2014 Aug;22(8):1034-9. doi: 10.1038/ejhg.2013.280. Epub 2013 Dec 4.

2.

SATB2-associated syndrome presenting with Rett-like phenotypes.

Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH.

Clin Genet. 2016 Jun;89(6):728-32. doi: 10.1111/cge.12698. Epub 2016 Jan 19.

PMID:
26596517
3.

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.

Am J Med Genet A. 2015 May;167A(5):1026-32. doi: 10.1002/ajmg.a.36849.

PMID:
25885067
4.

Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.

Liedén A, Kvarnung M, Nilssson D, Sahlin E, Lundberg ES.

Am J Med Genet A. 2014 Dec;164A(12):3083-7. doi: 10.1002/ajmg.a.36769. Epub 2014 Sep 23.

PMID:
25251319
5.

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.

Kaiser AS, Maas B, Wolff A, Sutter C, Janssen JW, Hinderhofer K, Moog U.

Eur J Hum Genet. 2015 May;23(5):704-7. doi: 10.1038/ejhg.2014.163. Epub 2014 Aug 13.

6.

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ.

J Med Genet. 2011 May;48(5):290-8. doi: 10.1136/jmg.2010.084491. Epub 2011 Feb 22.

PMID:
21343628
7.

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V.

Hum Mutat. 2007 Jul;28(7):732-8.

PMID:
17377962
8.

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG.

PLoS One. 2009 Aug 10;4(8):e6568. doi: 10.1371/journal.pone.0006568.

9.

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.

Clin Genet. 2017 Jan 31. doi: 10.1111/cge.12982. [Epub ahead of print]

PMID:
28139846
10.

Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.

Britanova O, Depew MJ, Schwark M, Thomas BL, Miletich I, Sharpe P, Tarabykin V.

Am J Hum Genet. 2006 Oct;79(4):668-78. Epub 2006 Aug 30.

11.

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E.

Clin Genet. 2009 Mar;75(3):259-64. doi: 10.1111/j.1399-0004.2008.01145.x.

PMID:
19170718
12.

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR.

Hum Mol Genet. 2014 May 15;23(10):2569-79. doi: 10.1093/hmg/ddt647. Epub 2013 Dec 20.

13.

Identification of SATB2 as the cleft palate gene on 2q32-q33.

FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT.

Hum Mol Genet. 2003 Oct 1;12(19):2491-501. Epub 2003 Jul 29.

PMID:
12915443
14.

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.

Dobreva G, Chahrour M, Dautzenberg M, Chirivella L, Kanzler B, Fariñas I, Karsenty G, Grosschedl R.

Cell. 2006 Jun 2;125(5):971-86.

15.

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.

J Int Med Res. 2016 Apr;44(2):395-402. doi: 10.1177/0300060515595651. Epub 2016 Jan 25.

PMID:
26811410
16.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study, Magee AC, Turnpenny PD, Baralle D.

J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.

17.

A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages.

Sheehan-Rooney K, Pálinkášová B, Eberhart JK, Dixon MJ.

Dev Dyn. 2010 Dec;239(12):3481-91. doi: 10.1002/dvdy.22483.

18.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.

Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.

19.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H.

Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20.

20.

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V.

Hum Genet. 2013 Dec;132(12):1383-93. doi: 10.1007/s00439-013-1345-9. Epub 2013 Aug 8.

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