Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 67

1.

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Gui B, Slone J, Huang T.

Front Genet. 2017 Nov 29;8:191. doi: 10.3389/fgene.2017.00191. eCollection 2017.

2.

T-box family of transcription factor-TBX5, insights in development and disease.

Zhu T, Qiao L, Wang Q, Mi R, Chen J, Lu Y, Gu J, Zheng Q.

Am J Transl Res. 2017 Feb 15;9(2):442-453. eCollection 2017.

3.

TBX5: A Key Regulator of Heart Development.

Steimle JD, Moskowitz IP.

Curr Top Dev Biol. 2017;122:195-221. doi: 10.1016/bs.ctdb.2016.08.008. Epub 2016 Sep 28. Review.

4.

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

Preuss C, Capredon M, Wünnemann F, Chetaille P, Prince A, Godard B, Leclerc S, Sobreira N, Ling H, Awadalla P, Thibeault M, Khairy P; MIBAVA Leducq consortium, Samuels ME, Andelfinger G.

PLoS Genet. 2016 Oct 19;12(10):e1006335. doi: 10.1371/journal.pgen.1006335. eCollection 2016 Oct.

5.

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.

Dreßen M, Lahm H, Lahm A, Wolf K, Doppler S, Deutsch MA, Cleuziou J, Pabst von Ohain J, Schön P, Ewert P, Malcic I, Lange R, Krane M.

Mol Genet Genomic Med. 2016 Jul 14;4(5):557-67. doi: 10.1002/mgg3.234. eCollection 2016 Sep.

6.

Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.

Usang UE, Agan TU, Inyang AW, Emehute JD, Itam IH.

J Med Case Rep. 2016 Aug 5;10(1):216. doi: 10.1186/s13256-016-1011-7.

7.

A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome.

Ersoy AÖ, Topçu V, Kale İ, Ersoy E, Özler S, Danışman N.

J Turk Ger Gynecol Assoc. 2015 Jul 14;17(1):55-7. doi: 10.5152/jtgga.2015.15233. eCollection 2016.

8.

A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report.

Ebrahimzadeh-Vesal R, Hosseini SK, Rezakhanlu F, Derakhshandeh-Peykar P.

Rep Biochem Mol Biol. 2013 Oct;2(1):52-5.

9.

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Elmakky A, Stanghellini I, Landi A, Percesepe A.

Curr Genomics. 2015 Aug;16(4):264-78. doi: 10.2174/1389202916666150528000412.

10.

Genetic basis of hindlimb loss in a naturally occurring vertebrate model.

Don EK, de Jong-Curtain TA, Doggett K, Hall TE, Heng B, Badrock AP, Winnick C, Nicholson GA, Guillemin GJ, Currie PD, Hesselson D, Heath JK, Cole NJ.

Biol Open. 2016 Feb 18;5(3):359-66. doi: 10.1242/bio.016295.

11.

The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.

Waldron L, Steimle JD, Greco TM, Gomez NC, Dorr KM, Kweon J, Temple B, Yang XH, Wilczewski CM, Davis IJ, Cristea IM, Moskowitz IP, Conlon FL.

Dev Cell. 2016 Feb 8;36(3):262-75. doi: 10.1016/j.devcel.2016.01.009.

12.

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.

13.

Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression.

Fischer K, Pflugfelder GO.

Front Oncol. 2015 Oct 29;5:244. doi: 10.3389/fonc.2015.00244. eCollection 2015.

14.

Defining Features of the Upper Extremity in Holt-Oram Syndrome.

Wall LB, Piper SL, Habenicht R, Oishi SN, Ezaki M, Goldfarb CA.

J Hand Surg Am. 2015 Sep;40(9):1764-8. doi: 10.1016/j.jhsa.2015.06.102. Epub 2015 Aug 1.

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.

Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as a Model for Heart Development and Congenital Heart Disease.

Doyle MJ, Lohr JL, Chapman CS, Koyano-Nakagawa N, Garry MG, Garry DJ.

Stem Cell Rev. 2015 Oct;11(5):710-27. doi: 10.1007/s12015-015-9596-6. Review.

17.

Diagnosis of Fanconi anemia by diepoxybutane analysis.

Auerbach AD.

Curr Protoc Hum Genet. 2015 Apr 1;85:8.7.1-17. doi: 10.1002/0471142905.hg0807s85.

18.

A hybrid computational method for the discovery of novel reproduction-related genes.

Chen L, Chu C, Kong X, Huang G, Huang T, Cai YD.

PLoS One. 2015 Mar 13;10(3):e0117090. doi: 10.1371/journal.pone.0117090. eCollection 2015.

19.

Atypical carpal tunnel syndrome in a holt oram patient: a case report and literature review.

Mace J, Reddy S, Mohil R.

Open Orthop J. 2014 Dec 29;8:462-5. doi: 10.2174/1874325001408010462. eCollection 2014.

20.

GATA-Binding Factor 6 Contributes to Atrioventricular Node Development and Function.

Liu F, Lu MM, Patel NN, Schillinger KJ, Wang T, Patel VV.

Circ Cardiovasc Genet. 2015 Apr;8(2):284-93. doi: 10.1161/CIRCGENETICS.113.000587. Epub 2015 Jan 22.

Supplemental Content

Support Center