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Items: 15

1.

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, Turnpenny PD, Dunwoodie SL.

Am J Med Genet A. 2013 Sep;161A(9):2244-9. doi: 10.1002/ajmg.a.36073. Epub 2013 Jul 29.

PMID:
23897666
2.

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL.

Eur J Hum Genet. 2010 Jun;18(6):674-9. doi: 10.1038/ejhg.2009.241. Epub 2010 Jan 20.

3.

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

Netravathi M, Kumari R, Kapoor S, Dakle P, Dwivedi MK, Roy SD, Pandey P, Saini J, Ramakrishna A, Navalli D, Satishchandra P, Pal PK, Kumar A, Faruq M.

BMC Med Genet. 2015 Feb 10;16:5. doi: 10.1186/s12881-015-0151-8.

4.

Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.

Qiu XS, Zhou S, Jiang H, Ji ML, Ding Q, Lv F, Liu Z, Tang N, Cheng JC, Qiu Y.

Stud Health Technol Inform. 2012;176:52-5.

PMID:
22744456
5.

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL.

Hum Mol Genet. 2008 Dec 1;17(23):3761-6. doi: 10.1093/hmg/ddn272. Epub 2008 Sep 5.

PMID:
18775957
6.

Spondylocostal Dysostosis, Autosomal Recessive.

Turnpenny PD, Young E; ICVS (International Consortium for Vertebral Anomalies and Scoliosis).

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2009 Aug 25 [updated 2013 Jan 17].

7.

Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm.

Bessho Y, Miyoshi G, Sakata R, Kageyama R.

Genes Cells. 2001 Feb;6(2):175-85.

9.

Congenital Diaphragmatic Hernia Overview.

Pober BR, Russell MK, Ackerman KG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Feb 1 [updated 2010 Mar 16].

10.

Polymorphisms in innate immunity genes and risk of childhood leukemia.

Han S, Lan Q, Park AK, Lee KM, Park SK, Ahn HS, Shin HY, Kang HJ, Koo HH, Seo JJ, Choi JE, Ahn YO, Chanock SJ, Kim H, Rothman N, Kang D.

Hum Immunol. 2010 Jul;71(7):727-30. doi: 10.1016/j.humimm.2010.04.004. Epub 2010 May 16.

11.

Risk of meningioma and common variation in genes related to innate immunity.

Rajaraman P, Brenner AV, Neta G, Pfeiffer R, Wang SS, Yeager M, Thomas G, Fine HA, Linet MS, Rothman N, Chanock SJ, Inskip PD.

Cancer Epidemiol Biomarkers Prev. 2010 May;19(5):1356-61. doi: 10.1158/1055-9965.EPI-09-1151. Epub 2010 Apr 20.

12.

Common variation in genes related to innate immunity and risk of adult glioma.

Rajaraman P, Brenner AV, Butler MA, Wang SS, Pfeiffer RM, Ruder AM, Linet MS, Yeager M, Wang Z, Orr N, Fine HA, Kwon D, Thomas G, Rothman N, Inskip PD, Chanock SJ.

Cancer Epidemiol Biomarkers Prev. 2009 May;18(5):1651-8. doi: 10.1158/1055-9965.EPI-08-1041.

13.

Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M.

Cell. 2006 Nov 3;127(3):635-48.

14.

Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S; DREAM investigators..

Diabetes Care. 2010 Oct;33(10):2250-3. doi: 10.2337/dc10-0452. Epub 2010 Jul 13.

15.

Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD; ASCOT investigators.; NORDIL investigators.; BRIGHT Consortium..

Am J Hum Genet. 2009 Nov;85(5):628-42. doi: 10.1016/j.ajhg.2009.10.014.

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