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Items: 1 to 20 of 444

1.

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
2.

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
3.

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
4.

Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

Gruenauer-Kloevekorn C, Froster UG.

Ann Genet. 2003 Jan-Mar;46(1):19-23.

PMID:
12818525
5.

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
6.

[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.

7.

Holt-Oram syndrome.

Lichiardopol C, Militaru C, Popescu B, Hila G, Mixich F.

Rom J Morphol Embryol. 2007;48(1):67-70.

8.

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

Reamon-Buettner SM, Borlak J.

Hum Mutat. 2004 Jul;24(1):104.

PMID:
15221798
9.

[TBX5 mutation in Chinese patients with Holt-Oram syndrome].

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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Aug;17(4):233-5. Chinese.

PMID:
10932003
10.

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
11.

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.

12.

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
13.

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG.

Heart. 2005 Mar;91(3):383-4. No abstract available.

14.

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD.

Nat Genet. 1997 Jan;15(1):21-9.

PMID:
8988164
15.

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.

PMID:
11555635
16.

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT.

Pediatr Res. 2005 Nov;58(5):981-6. Epub 2005 Sep 23.

PMID:
16183809
17.

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

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

Cardiol Young. 2015 Aug;25(6):1093-8. doi: 10.1017/S1047951114001656. Epub 2014 Sep 12.

PMID:
25216260
18.

[The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation].

Palma Nieto JC, Herráez García J, Sciaccaluga Morelli C, Briones García JL.

Rev Esp Cardiol. 1993 Jun;46(6):385-8. Review. Spanish.

PMID:
8316706
19.

Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.

Ruiz JC, Legius E, Cuppens H, Moens P, Marynen P, Cassiman JJ.

Clin Genet. 1994 Sep;46(3):257-9.

PMID:
7820941
20.

Holt-Oram syndrome associated with anomalies of the feet.

Garavelli L, De Brasi D, Verri R, Guareschi E, Cariola F, Melis D, Calcagno G, Salvatore F, Unger S, Sebastio G, Albertini G, Rivieri F, Soli F, Superti-Furga A, Gentile M.

Am J Med Genet A. 2008 May 1;146A(9):1185-9. doi: 10.1002/ajmg.a.32170.

PMID:
18351627

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