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Items: 1 to 20 of 150

1.

Rare cardiac defect in Holt-Oram syndrome.

Sinha R, Nema C.

Cardiovasc J Afr. 2012 Mar 12;23(2):e3-4. doi: 10.5830/CVJA-2011-017.

2.

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

Koçak 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
3.

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.

4.

Holt-Oram syndrome.

Goldfarb CA, Wall LB.

J Hand Surg Am. 2014 Aug;39(8):1646-8. doi: 10.1016/j.jhsa.2014.02.015. Epub 2014 Mar 20. Review. No abstract available.

PMID:
24656395
5.

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
6.

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
7.
8.

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
9.

[The "heart-hand" syndrome in a 8-year-old-boy with short stature].

Petriczko E, Horodnicka-Józwa A, Prowans P, Biczysko-Mokosa A, Szmit-Domagalska J, Dawid G, Walczak M, Zajaczek S.

Wiad Lek. 2011;64(1):15-21. Polish.

PMID:
21812358
10.

Holt-Oram syndrome with aortopulmonary window--a rare association.

Srinivas SK, Balekundri VI, Manjunath CN.

Cardiol Young. 2014 Oct;24(5):947-9. doi: 10.1017/S1047951113001844. Epub 2013 Oct 14.

PMID:
24124729
11.

Tetralogy of Fallot with Holt-Oram syndrome.

Kumar V, Agrawal V, Jain D, Shankar O.

Indian Heart J. 2012 Jan-Feb;64(1):95-8. doi: 10.1016/S0019-4832(12)60021-2. Epub 2012 Mar 26.

12.

Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus.

Paladini D, Tiesi M, Buffi D, Tuo G, Marasini M.

Ultrasound Obstet Gynecol. 2014 Apr;43(4):475-6. doi: 10.1002/uog.13238. Epub 2014 Mar 3.

13.

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
14.

[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.

15.

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.

16.

Holt Oram syndrome: a case report and review of the literature.

Virdis G, Dessole M, Dessole S, Ambrosini G, Cosmi E, Cherchil PL, Capobianco G.

Clin Exp Obstet Gynecol. 2016;43(1):137-9. Review.

PMID:
27048037
17.

Holt Oram syndrome: a registry-based study in Europe.

Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell B, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, Dolk H.

Orphanet J Rare Dis. 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y.

18.

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
19.

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
20.

Holt-Oram: when the key to a broken heart is in the hand.

Naderi N, McCurdy MT, Reed RM.

BMJ Case Rep. 2014 Apr 10;2014. pii: bcr2014203851. doi: 10.1136/bcr-2014-203851. No abstract available.

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