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Items: 1 to 20 of 105

1.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, Lenne B, Delobel B, Porchet N, Cormier-Daire V, Smol T, Escande F, Manouvrier-Hanu S, Petit F.

Eur J Hum Genet. 2019 Mar;27(3):360-368. doi: 10.1038/s41431-018-0303-3. Epub 2018 Dec 14.

PMID:
30552424
2.

[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier].

Murga-Eizagaechevarria N, Garcia-Barcina M, Sarasola Diez E.

Rev Esp Cardiol. 2011 Dec;64(12):1225-6. doi: 10.1016/j.recesp.2011.02.016. Epub 2011 Jul 12. Spanish. No abstract available.

3.

MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome.

Chiavacci E, D'Aurizio R, Guzzolino E, Russo F, Baumgart M, Groth M, Mariani L, D'Onofrio M, Arisi I, Pellegrini M, Cellerino A, Cremisi F, Pitto L.

Sci Rep. 2015 Dec 14;5:18240. doi: 10.1038/srep18240.

4.

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.

Baban A, Pitto L, Pulignani S, Cresci M, Mariani L, Gambacciani C, Digilio MC, Pongiglione G, Albanese S.

Am J Med Genet A. 2014 Jun;164A(6):1419-24. doi: 10.1002/ajmg.a.36459. Epub 2014 Mar 24.

PMID:
24664498
5.

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.

Al-Qattan MM, Abou Al-Shaar H.

Gene. 2015 Apr 15;560(2):129-36. doi: 10.1016/j.gene.2015.02.017. Epub 2015 Feb 11. Review.

PMID:
25680289
6.

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

Morine M, Kohmoto T, Masuda K, Inagaki H, Watanabe M, Naruto T, Kurahashi H, Maeda K, Imoto I.

Am J Med Genet A. 2015 Dec;167A(12):3192-6. doi: 10.1002/ajmg.a.37359. Epub 2015 Sep 28. Erratum in: Am J Med Genet A. 2016 Feb;170A(2):548.

PMID:
26780237
7.

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.

8.

Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.

Guo Q, Shen J, Liu Y, Pu T, Sun K, Chen S.

Cell Physiol Biochem. 2015;37(3):1066-74. doi: 10.1159/000430232. Epub 2015 Sep 25.

9.

KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.

Darwich R, Li W, Yamak A, Komati H, Andelfinger G, Sun K, Nemer M.

Hum Mol Genet. 2017 Mar 1;26(5):942-954. doi: 10.1093/hmg/ddx009.

PMID:
28164238
10.

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
11.

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
12.

Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, Mei L, Tang J, Kumar M, Wang X, Su L, Dong N.

Clin Genet. 2017 Mar;91(3):349-354. doi: 10.1111/cge.12835. Epub 2016 Sep 5. Review.

PMID:
27426723
13.

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.

Atik T, Dervisoglu H, Onay H, Ozkinay F, Cogulu O.

J Trop Pediatr. 2014 Jun;60(3):257-9. doi: 10.1093/tropej/fmt109. Epub 2014 Jan 9.

PMID:
24408148
14.

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.

Al-Qattan MM, Abou Al-Shaar H.

Saudi Med J. 2015 Aug;36(8):980-2. doi: 10.15537/smj.2015.8.11891.

15.

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Ko├žak Eker H, Altunoglu U, Toksoy G, Kayserili H.

Clin Dysmorphol. 2016 Oct;25(4):192-4. doi: 10.1097/MCD.0000000000000121. No abstract available.

PMID:
27552067
16.

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.

Alby C, Bessieres B, Bieth E, Attie-Bitach T, Fermont L, Citony I, Razavi F, Vekemans M, Escande F, Manouvrier S, Malan V, Amiel J.

Am J Med Genet A. 2013 Jul;161A(7):1797-802. doi: 10.1002/ajmg.a.36054. Epub 2013 May 24.

PMID:
23713051
17.

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.

Smemo S, Campos LC, Moskowitz IP, Krieger JE, Pereira AC, Nobrega MA.

Hum Mol Genet. 2012 Jul 15;21(14):3255-63. doi: 10.1093/hmg/dds165. Epub 2012 Apr 27.

18.

Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome.

Li B, Chen S, Sun K, Xu R, Wu Y.

DNA Cell Biol. 2018 Apr;37(4):398-404. doi: 10.1089/dna.2017.4094. Epub 2018 Feb 20.

PMID:
29461882
19.

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

Guo DF, Li RG, Yuan F, Shi HY, Hou XM, Qu XK, Xu YJ, Zhang M, Liu X, Jiang JQ, Yang YQ, Qiu XB.

Mol Med Rep. 2016 May;13(5):4349-56. doi: 10.3892/mmr.2016.5043. Epub 2016 Mar 24.

PMID:
27035640
20.

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.

Sulaiman FA, Nishimoto S, Murphy GR, Kucharska A, Butterfield NC, Newbury-Ecob R, Logan MP.

PLoS Genet. 2016 Dec 19;12(12):e1006521. doi: 10.1371/journal.pgen.1006521. eCollection 2016 Dec.

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