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Items: 1 to 20 of 151

1.

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.

Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ, Scambler PJ, Lindsay E.

Proc Natl Acad Sci U S A. 2006 May 16;103(20):7729-34. Epub 2006 May 9.

2.

Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.

Prasad SE, Howley S, Murphy KC.

Dev Disabil Res Rev. 2008;14(1):26-34. doi: 10.1002/ddrr.5. Review.

PMID:
18636634
3.

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.

Papangeli I, Scambler P.

Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):393-403. doi: 10.1002/wdev.75. Epub 2012 Jun 19.

PMID:
23799583
4.

Mouse models of 22q11 deletion syndrome.

Paylor R, Lindsay E.

Biol Psychiatry. 2006 Jun 15;59(12):1172-9. Epub 2006 Apr 17. Review.

PMID:
16616724
5.

Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome.

Prescott K, Ivins S, Hubank M, Lindsay E, Baldini A, Scambler P.

Hum Genet. 2005 May;116(6):486-96. Epub 2005 Mar 19.

PMID:
15778864
6.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium.

Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.

7.

An association study between the genetic polymorphisms within TBX1 and schizophrenia in the Chinese population.

Ma G, Shi Y, Tang W, He Z, Huang K, Li Z, He G, Feng G, Li H, He L.

Neurosci Lett. 2007 Oct 2;425(3):146-50. Epub 2007 Aug 15.

PMID:
17850965
8.

Analysis of TBX1 variation in patients with psychotic and affective disorders.

Funke BH, Lencz T, Finn CT, DeRosse P, Poznik GD, Plocik AM, Kane J, Rogus J, Malhotra AK, Kucherlapati R.

Mol Med. 2007 Jul-Aug;13(7-8):407-14.

9.

Cortical Development Requires Mesodermal Expression of Tbx1, a Gene Haploinsufficient in 22q11.2 Deletion Syndrome.

Flore G, Cioffi S, Bilio M, Illingworth E.

Cereb Cortex. 2017 Mar 1;27(3):2210-2225. doi: 10.1093/cercor/bhw076.

PMID:
27005988
10.

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Zweier C, Sticht H, Aydin-Yaylag├╝l I, Campbell CE, Rauch A.

Am J Hum Genet. 2007 Mar;80(3):510-7. Epub 2007 Jan 18.

11.

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Scambler PJ.

Pediatr Cardiol. 2010 Apr;31(3):378-90. doi: 10.1007/s00246-009-9613-0. Review.

PMID:
20054531
12.

Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia.

Arinami T.

J Hum Genet. 2006;51(12):1037-45. Epub 2006 Sep 13. Review.

PMID:
16969581
13.

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashima S, Kato F, Fukami M, Aoki Y, Matsubara Y.

PLoS One. 2014 Mar 17;9(3):e91598. doi: 10.1371/journal.pone.0091598. eCollection 2014.

14.

Tbx1 regulates brain vascularization.

Cioffi S, Martucciello S, Fulcoli FG, Bilio M, Ferrentino R, Nusco E, Illingworth E.

Hum Mol Genet. 2014 Jan 1;23(1):78-89. doi: 10.1093/hmg/ddt400. Epub 2013 Aug 14.

PMID:
23945394
15.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.2 Consortium.

Hum Mutat. 2011 Nov;32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16.

16.

MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.

Voss AK, Vanyai HK, Collin C, Dixon MP, McLennan TJ, Sheikh BN, Scambler P, Thomas T.

Dev Cell. 2012 Sep 11;23(3):652-63. doi: 10.1016/j.devcel.2012.07.010. Epub 2012 Aug 23.

17.

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.

Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, Emanuel BS, Budarf ML.

Genomics. 1997 Aug 1;43(3):267-77.

PMID:
9268629
18.

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.

Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE.

Hum Mol Genet. 2006 Nov 1;15(21):3219-28. Epub 2006 Sep 25.

PMID:
17000704
19.

The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning.

Fagman H, Liao J, Westerlund J, Andersson L, Morrow BE, Nilsson M.

Hum Mol Genet. 2007 Feb 1;16(3):276-85. Epub 2006 Dec 12.

PMID:
17164259
20.

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.

Choi M, Klingensmith J.

PLoS Genet. 2009 Feb;5(2):e1000395. doi: 10.1371/journal.pgen.1000395. Epub 2009 Feb 27.

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