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Page 1
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E. Aran A, et al. Among authors: kanaan m. Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29. Neurology. 2016. PMID: 27164683 Free PMC article.
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: kanaan m. 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.
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Brownstein Z, et al. Among authors: kanaan m. Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89. Genome Biol. 2011. PMID: 21917145 Free PMC article.
201 results