Kemal O. Yariz, Ph.D. - Publications

2008 University of Miami, Coral Gables, FL 
Molecular Biology, Genetics

10 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2015 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. Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. Bmc Medical Genetics. 16: 9. PMID 25928534 DOI: 10.1186/S12881-015-0149-2  0.487
2015 Yariz KO, Sakalar YB, Jin X, Hertz J, Sener EF, Akay H, Özbek MN, Farooq A, Goldberg J, Tekin M. A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. Clinical Genetics. 87: 192-5. PMID 24702266 DOI: 10.1111/Cge.12374  0.334
2013 Falcone M, Yariz KO, Ross DB, Foster J, Menendez I, Tekin M. An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. Plos One. 8: e82810. PMID 24324832 DOI: 10.1371/Journal.Pone.0082810  0.402
2012 Yariz KO, Duman D, Seco CZ, 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, et al. Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. American Journal of Human Genetics. 91: 872-82. PMID 23122586 DOI: 10.1016/J.Ajhg.2012.09.011  0.483
2012 Yariz KO, Walsh T, Akay H, Duman D, Akkaynak AC, King MC, Tekin M. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clinical Genetics. 81: 289-93. PMID 21348867 DOI: 10.1111/J.1399-0004.2011.01654.X  0.514
2011 Yariz KO, Walsh T, Uzak A, Spiliopoulos M, Duman D, Onalan G, King MC, Tekin M. Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertility and Sterility. 96: e125-30. PMID 21683950 DOI: 10.1016/J.Fertnstert.2011.05.057  0.408
2011 Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation British Journal of Dermatology. 165: 917-921. PMID 21668431 DOI: 10.1111/J.1365-2133.2011.10455.X  0.524
2008 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. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. American Journal of Human Genetics. 82: 188-93. PMID 18179898 DOI: 10.1016/J.Ajhg.2007.09.009  0.516
2007 Guevara-Aguirre J, Rosenbloom AL, Guevara-Aguirre M, Yariz K, Saavedra J, Baumbach L, Shuster J. Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature. Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 17: 261-4. PMID 17350302 DOI: 10.1016/J.Ghir.2007.01.016  0.322
2007 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. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 52-60. PMID 17224690 DOI: 10.1097/Gim.0B013E31802D8353  0.508
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