King MC - Search Results

1

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E. Navon Elkan P, et al. Among authors: king mc. N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552285 Free article.

2

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.

Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC. Shaag A, et al. Among authors: king mc. Hum Mol Genet. 2005 Feb 15;14(4):555-63. doi: 10.1093/hmg/ddi052. Epub 2005 Jan 13. Hum Mol Genet. 2005. PMID: 15649950

3

Ten genes for inherited breast cancer.

Walsh T, King MC. Walsh T, et al. Among authors: king mc. Cancer Cell. 2007 Feb;11(2):103-5. doi: 10.1016/j.ccr.2007.01.010. Cancer Cell. 2007. PMID: 17292821 Free article.

4

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. Renbaum P, et al. Among authors: king mc. Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646678 Free PMC article.

5

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. Walsh T, et al. Among authors: king mc. Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602916 Free PMC article.

6

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Pierce SB, et al. Among authors: king mc. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673864 Free PMC article.

7

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, King MC. Casadei S, et al. Among authors: king mc. Cancer Res. 2011 Mar 15;71(6):2222-9. doi: 10.1158/0008-5472.CAN-10-3958. Epub 2011 Feb 1. Cancer Res. 2011. PMID: 21285249 Free PMC article.

8

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Pierce SB, et al. Among authors: king mc. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4. Proc Natl Acad Sci U S A. 2011. PMID: 21464306 Free PMC article.

9

Accurate and exact CNV identification from targeted high-throughput sequence data.

Nord AS, Lee M, King MC, Walsh T. Nord AS, et al. Among authors: king mc. BMC Genomics. 2011 Apr 12;12:184. doi: 10.1186/1471-2164-12-184. BMC Genomics. 2011. PMID: 21486468 Free PMC article.

10

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Yariz KO, Walsh T, Uzak A, Spiliopoulos M, Duman D, Onalan G, King MC, Tekin M. Yariz KO, et al. Among authors: king mc. Fertil Steril. 2011 Aug;96(2):e125-30. doi: 10.1016/j.fertnstert.2011.05.057. Epub 2011 Jun 17. Fertil Steril. 2011. PMID: 21683950 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

479 results

Search Page

Filters