Yariz KO - Search Results

1

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

Bademci G, Lasisi A, Yariz KO, Montenegro P, Menendez I, Vinueza R, Paredes R, Moreta G, Subasioglu A, Blanton S, Fitoz S, Incesulu A, Sennaroglu L, Tekin M. Bademci G, et al. Among authors: yariz ko. BMC Med Genet. 2015 Feb 25;16:9. doi: 10.1186/s12881-015-0149-2. BMC Med Genet. 2015. PMID: 25928534 Free PMC article.

2

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.

Yariz KO, Sakalar YB, Jin X, Hertz J, Sener EF, Akay H, Özbek MN, Farooq A, Goldberg J, Tekin M. Yariz KO, et al. Clin Genet. 2015 Feb;87(2):192-5. doi: 10.1111/cge.12374. Epub 2014 Apr 7. Clin Genet. 2015. PMID: 24702266 No abstract available.

3

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.

Falcone M, Yariz KO, Ross DB, Foster J 2nd, Menendez I, Tekin M. Falcone M, et al. Among authors: yariz ko. PLoS One. 2013 Dec 6;8(12):e82810. doi: 10.1371/journal.pone.0082810. eCollection 2013. PLoS One. 2013. PMID: 24324832 Free PMC article.

4

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M. Yariz KO, et al. Am J Hum Genet. 2012 Nov 2;91(5):872-82. doi: 10.1016/j.ajhg.2012.09.011. Am J Hum Genet. 2012. PMID: 23122586 Free PMC article.

5

Randomized phase II trial of letrozole plus anti-MUC1 antibody AS1402 in hormone receptor-positive locally advanced or metastatic breast cancer.

Ibrahim NK, Yariz KO, Bondarenko I, Manikhas A, Semiglazov V, Alyasova A, Komisarenko V, Shparyk Y, Murray JL, Jones D, Senderovich S, Chau A, Erlandsson F, Acton G, Pegram M. Ibrahim NK, et al. Among authors: yariz ko. Clin Cancer Res. 2011 Nov 1;17(21):6822-30. doi: 10.1158/1078-0432.CCR-11-1151. Epub 2011 Aug 30. Clin Cancer Res. 2011. PMID: 21878535 Clinical Trial.

6

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. 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.

7

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.

Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M. Erken H, et al. Among authors: yariz ko. Br J Dermatol. 2011 Oct;165(4):917-21. doi: 10.1111/j.1365-2133.2011.10455.x. Epub 2011 Aug 9. Br J Dermatol. 2011. PMID: 21668431

8

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Yariz KO, Walsh T, Akay H, Duman D, Akkaynak AC, King MC, Tekin M. Yariz KO, et al. Clin Genet. 2012 Mar;81(3):289-93. doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15. Clin Genet. 2012. PMID: 21348867 Free PMC article.

9

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Ramser J, et al. Among authors: yariz ko. Am J Hum Genet. 2008 Jan;82(1):188-93. doi: 10.1016/j.ajhg.2007.09.009. Am J Hum Genet. 2008. PMID: 18179898 Free PMC article.

10

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.

Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martínez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L. Dressman D, et al. Among authors: yariz ko. Genet Med. 2007 Jan;9(1):52-60. doi: 10.1097/gim.0b013e31802d8353. Genet Med. 2007. PMID: 17224690 Free article.

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