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Items: 1 to 20 of 102

1.

Mutation in myosin heavy chain 6 causes atrial septal defect.

Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD.

Nat Genet. 2005 Apr;37(4):423-8. Epub 2005 Feb 27.

PMID:
15735645
2.

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J.

Hum Mol Genet. 2010 Oct 15;19(20):4007-16. doi: 10.1093/hmg/ddq315. Epub 2010 Jul 23.

PMID:
20656787
3.

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Özcelik C.

PLoS One. 2011;6(12):e28872. doi: 10.1371/journal.pone.0028872. Epub 2011 Dec 14.

4.

Physical interaction between TBX5 and MEF2C is required for early heart development.

Ghosh TK, Song FF, Packham EA, Buxton S, Robinson TE, Ronksley J, Self T, Bonser AJ, Brook JD.

Mol Cell Biol. 2009 Apr;29(8):2205-18. doi: 10.1128/MCB.01923-08. Epub 2009 Feb 9.

5.

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
6.

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.

Vaughan CJ, Basson CT.

Am J Med Genet. 2000 Winter;97(4):304-9. Review.

PMID:
11376442
7.

Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome.

Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N.

Circ Arrhythm Electrophysiol. 2015 Apr;8(2):400-8. doi: 10.1161/CIRCEP.114.002534. Epub 2015 Feb 25.

8.
9.

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.

Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T.

PLoS One. 2007 Dec 26;2(12):e1362.

10.

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
11.

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
12.

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.

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.

A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly.

Faria MH, Rabenhorst SH, Pereira AC, Krieger JE.

Int J Cardiol. 2008 Oct 30;130(1):30-5. doi: 10.1016/j.ijcard.2008.06.090. Epub 2008 Aug 15.

PMID:
18706711
15.

Ventricular expression of tbx5 inhibits normal heart chamber development.

Liberatore CM, Searcy-Schrick RD, Yutzey KE.

Dev Biol. 2000 Jul 1;223(1):169-80.

16.

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Granados-Riveron JT, Pope M, Bu'lock FA, Thornborough C, Eason J, Setchfield K, Ketley A, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Brook JD.

Congenit Heart Dis. 2012 Mar-Apr;7(2):151-9. doi: 10.1111/j.1747-0803.2011.00573.x. Epub 2011 Oct 20.

17.

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.

18.

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.

Baban A, Postma AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, Boogerd CJ, Dallapiccola B, Digilio MC, Ravazzolo R, Pongiglione G.

Am J Med Genet A. 2014 Dec;164A(12):3100-7. doi: 10.1002/ajmg.a.36783. Epub 2014 Sep 26.

PMID:
25263169
19.

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
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.

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