Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 101

Similar articles for PubMed (Select 23984174)

1.

Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation.

Aherne NJ, Rangaswamy G, Thirion P.

Case Rep Urol. 2013;2013:405343. doi: 10.1155/2013/405343. Epub 2013 Aug 5.

2.

Novel TBX5 mutations in patients with Holt-Oram syndrome.

Debeer P, Race V, Gewillig M, Devriendt K, Frijns JP.

Clin Orthop Relat Res. 2007 Sep;462:20-6.

PMID:
17534187
3.

Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.

Kimura M, Kikuchi A, Ichinoi N, Kure S.

Pediatr Cardiol. 2015 Jan;36(1):244-7. doi: 10.1007/s00246-014-1028-x. Epub 2014 Oct 2.

PMID:
25274398
4.

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW.

Cardiol Young. 2014 Sep 12:1-6. [Epub ahead of print]

PMID:
25216260
5.

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE.

Nat Genet. 1997 Jan;15(1):30-5. Erratum in: Nat Genet 1997 Apr;15(4):411.

PMID:
8988165
6.

Holt-Oram syndrome presenting as agenesis of the left pericardium.

Dias RR, Albuquerque JM, Pereira AC, Stolf NA, Krieger JE, Mady C, Oliveira SA.

Int J Cardiol. 2007 Jan 2;114(1):98-100. Epub 2006 Jan 10.

PMID:
16376438
7.

Holt-Oram syndrome: a case report.

Chin J, Pereira S, Camacho A, Pessoa B, Bento D, Amado J, Pereira J, de Jesus I.

Rev Port Cardiol. 2014 Nov;33(11):737.e1-5. doi: 10.1016/j.repc.2014.06.005. Epub 2014 Nov 4.

PMID:
25455949
8.

TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).

Sun G, Lewis LE, Huang X, Nguyen Q, Price C, Huang T.

J Cell Biochem. 2004 May 1;92(1):189-99. Erratum in: J Cell Biochem. 2004 Jul 1;92(4):864.

PMID:
15095414
9.

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.

Porto MP, Vergani N, Carvalho AC, Cernach MC, Brunoni D, Perez AB.

Genet Mol Biol. 2010 Apr;33(2):232-6. doi: 10.1590/S1415-47572010005000051. Epub 2010 Jun 1.

10.

A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.

Muru K, Kalev I, Teek R, Sõnajalg M, Kuuse K, Reimand T, Ounap K.

Mol Syndromol. 2011 Sep;1(6):307-310. Epub 2011 Aug 3.

11.

[Holt-Oram syndrome: characterization of a novel mutation].

Fernández García-Moya L, Lapunzina Badía P, Delicado Navarro A, Sharif A, Cross G, Mori Alvarez MA, de Torres Perezhidalgo ML, Palomares Bralo M, García Sánchez P, García-Guereta Silva L, López Pajares I.

An Pediatr (Barc). 2006 Jun;64(6):578-82. Spanish.

12.

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Patel C, Silcock L, McMullan D, Brueton L, Cox H.

Eur J Hum Genet. 2012 Aug;20(8):863-9. doi: 10.1038/ejhg.2012.16. Epub 2012 Feb 15.

13.

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE.

N Engl J Med. 1994 Mar 31;330(13):885-91. Erratum in: N Engl J Med 1994 Jun 2;330(22):1627.

14.

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.

Ghosh TK, Packham EA, Bonser AJ, Robinson TE, Cross SJ, Brook JD.

Hum Mol Genet. 2001 Sep 1;10(18):1983-94.

15.

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ.

Am J Hum Genet. 2003 Jul;73(1):74-85. Epub 2003 Jun 3.

16.

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J.

Hum Mutat. 2006 Sep;27(9):975-6.

PMID:
16917909
17.

Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

Yang J, Hu D, Xia J, Yang Y, Ying B, Hu J, Zhou X.

Am J Med Genet. 2000 Jun 5;92(4):237-40.

PMID:
10842287
18.

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Mori AD, Bruneau BG.

Curr Opin Cardiol. 2004 May;19(3):211-5. Review.

PMID:
15096952
19.

Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.

Fan C, Chen Q, Wang QK.

J Biol Chem. 2009 Sep 18;284(38):25653-63. doi: 10.1074/jbc.M109.041368. Epub 2009 Jul 31.

20.

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.

Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF.

Circ Res. 2008 Jun 6;102(11):1433-42. doi: 10.1161/CIRCRESAHA.107.168294. Epub 2008 May 1.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk