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Items: 18

1.

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.

Dalm VA, Driessen GJ, Barendregt BH, van Hagen PM, van der Burg M.

J Clin Immunol. 2015 Nov;35(8):761-8. doi: 10.1007/s10875-015-0211-z. Epub 2015 Nov 14.

2.

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Peng Y, Ma R, Zhou Y, Xia Y, Wen J, Zhang Y, Guo R, Li H, Pan Q, Zhang R, Tang C, Liang D, Wu L.

Mol Cytogenet. 2015 Nov 9;8:88. doi: 10.1186/s13039-015-0191-y. eCollection 2015.

3.

The transcription factors Ets1 and Sox10 interact during murine melanocyte development.

Saldana-Caboverde A, Perera EM, Watkins-Chow DE, Hansen NF, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Pavan WJ, Kos L.

Dev Biol. 2015 Nov 15;407(2):300-12. doi: 10.1016/j.ydbio.2015.04.012. Epub 2015 Apr 23.

PMID:
25912689
4.

Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities.

Xu Z, Geng Q, Luo F, Xu F, Li P, Xie J.

Mol Cytogenet. 2014 Dec 9;7(1):84. doi: 10.1186/s13039-014-0084-5. eCollection 2014.

5.

Rac1 signaling is critical to cardiomyocyte polarity and embryonic heart development.

Leung C, Lu X, Liu M, Feng Q.

J Am Heart Assoc. 2014 Oct 14;3(5):e001271. doi: 10.1161/JAHA.114.001271.

6.

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

Sheth FJ, Datar C, Andrieux J, Pandit A, Nayak D, Rahman M, Sheth JJ.

Clin Med Insights Pediatr. 2014 Sep 17;8:45-9. doi: 10.4137/CMPed.S18121. eCollection 2014.

7.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-96. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

8.

Genetic basis of congenital cardiovascular malformations.

Lalani SR, Belmont JW.

Eur J Med Genet. 2014 Aug;57(8):402-13. doi: 10.1016/j.ejmg.2014.04.010. Epub 2014 Apr 30. Review.

9.

Identification and dissection of a key enhancer mediating cranial neural crest specific expression of transcription factor, Ets-1.

Barembaum M, Bronner ME.

Dev Biol. 2013 Oct 15;382(2):567-75. doi: 10.1016/j.ydbio.2013.08.009. Epub 2013 Aug 19.

10.

MatrixCatch--a novel tool for the recognition of composite regulatory elements in promoters.

Deyneko IV, Kel AE, Kel-Margoulis OV, Deineko EV, Wingender E, Weiss S.

BMC Bioinformatics. 2013 Aug 8;14:241. doi: 10.1186/1471-2105-14-241.

11.

Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defect.

Cheng C, Lin Y, Yang F, Wang W, Wu C, Qin J, Shao X, Zhou L.

J Biomed Res. 2011 Nov;25(6):425-30. doi: 10.1016/S1674-8301(11)60056-0.

12.

Dynamic and differential regulation of stem cell factor FoxD3 in the neural crest is Encrypted in the genome.

Simões-Costa MS, McKeown SJ, Tan-Cabugao J, Sauka-Spengler T, Bronner ME.

PLoS Genet. 2012;8(12):e1003142. doi: 10.1371/journal.pgen.1003142. Epub 2012 Dec 20.

13.

Partitioning the heart: mechanisms of cardiac septation and valve development.

Lin CJ, Lin CY, Chen CH, Zhou B, Chang CP.

Development. 2012 Sep;139(18):3277-99. doi: 10.1242/dev.063495. Review.

14.

New Genetic Insights into Congenital Heart Disease.

Ware SM, Jefferies JL.

J Clin Exp Cardiolog. 2012 Jun 15;S8. pii: 003.

15.

Transcription factor pathways and congenital heart disease.

McCulley DJ, Black BL.

Curr Top Dev Biol. 2012;100:253-77. doi: 10.1016/B978-0-12-387786-4.00008-7. Review.

16.

ETS-dependent regulation of a distal Gata4 cardiac enhancer.

Schachterle W, Rojas A, Xu SM, Black BL.

Dev Biol. 2012 Jan 15;361(2):439-49. doi: 10.1016/j.ydbio.2011.10.023. Epub 2011 Oct 26.

17.

Probing human cardiovascular congenital disease using transgenic mouse models.

Snider P, Conway SJ.

Prog Mol Biol Transl Sci. 2011;100:83-110. doi: 10.1016/B978-0-12-384878-9.00003-0. Review.

18.

The molecular genetics of congenital heart disease: a review of recent developments.

Wolf M, Basson CT.

Curr Opin Cardiol. 2010 May;25(3):192-7. doi: 10.1097/HCO.0b013e328337b4ce. Review.

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