Mustafa Tekin
Mustafa Tekin
Division of Clinical and Translational Genetics, Miller School of Medicine, University of Miami
Verified email at miami.edu
Title
Cited by
Cited by
Year
GJB2 mutations and degree of hearing loss: a multicenter study
RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...
The American Journal of Human Genetics 77 (6), 945-957, 2005
5542005
The promise of whole-exome sequencing in medical genetics
B Rabbani, M Tekin, N Mahdieh
Journal of human genetics 59 (1), 5-15, 2014
4732014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
P Navon Elkan, SB Pierce, R Segel, T Walsh, J Barash, S Padeh, ...
New England Journal of Medicine 370 (10), 921-931, 2014
4242014
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
HG Kim, I Kurth, F Lan, I Meliciani, W Wenzel, SH Eom, GB Kang, ...
The American Journal of Human Genetics 83 (4), 511-519, 2008
3122008
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
JE Ming, ME Kaupas, E Roessler, HG Brunner, M Golabi, M Tekin, ...
Human genetics 110 (4), 297-301, 2002
2662002
Advances in hereditary deafness
M Tekin, KS Arnos, A Pandya
The Lancet 358 (9287), 1082-1090, 2001
2122001
Genotype–phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis
F Yalçınkaya, N Cakar, M Mısırlıoğlu, N Tümer, N Akar, M Tekin, H Taştan, ...
Rheumatology 39 (1), 67-72, 2000
2092000
Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ...
Nature genetics 44 (11), 1265-1271, 2012
1902012
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
A Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ...
The American Journal of Human Genetics 89 (2), 289-294, 2011
1842011
Digestion of chromatin in apoptotic cell microparticles prevents autoimmunity
V Sisirak, B Sally, V D’Agati, W Martinez-Ortiz, ZB Özçakar, J David, ...
Cell 166 (1), 88-101, 2016
1802016
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
HG Kim, JW Ahn, I Kurth, R Ullmann, HT Kim, A Kulharya, KS Ha, ...
The American Journal of Human Genetics 87 (4), 465-479, 2010
1802010
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
XZ Liu, XJ Xia, J Adams, ZY Chen, KO Welch, M Tekin, XM Ouyang, ...
Human molecular genetics 10 (25), 2945-2951, 2001
1632001
MLL2 and KDM6A mutations in patients with Kabuki syndrome
N Miyake, E Koshimizu, N Okamoto, S Mizuno, T Ogata, T Nagai, T Kosho, ...
American journal of medical genetics Part A 161 (9), 2234-2243, 2013
1522013
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative …
SE Degn, L Jensen, AG Hansen, D Duman, M Tekin, JC Jensenius, ...
The Journal of Immunology 189 (8), 3957-3969, 2012
1442012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
O Diaz-Horta, D Duman, J Foster II, A Sırmacı, M Gonzalez, N Mahdieh, ...
PloS one 7 (11), e50628, 2012
1402012
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
A Sirmaci, T Walsh, H Akay, M Spiliopoulos, YB Şakalar, ...
The American Journal of Human Genetics 87 (5), 679-686, 2010
1312010
Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise
D Yan, Y Zhu, T Walsh, D Xie, H Yuan, A Sirmaci, T Fujikawa, ACY Wong, ...
Proceedings of the National Academy of Sciences 110 (6), 2228-2233, 2013
1282013
Autosomal recessive nonsyndromic deafness genes: a review
D Duman, M Tekin
Frontiers in bioscience: a journal and virtual library 17, 2213, 2012
1282012
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ...
Human molecular genetics 18 (12), 2149-2165, 2009
1272009
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia
M Tekin, BÖ Hişmi, S Fitoz, H Özdağ, FB Cengiz, A Sırmacı, İ Aslan, ...
The American Journal of Human Genetics 80 (2), 338-344, 2007
1182007
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