Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35
Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, van der Zwaag, Bert, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Ahmed, Zubair M., Çaylan, Refik, Li, Yun, Spierenburg, Henk A., Eyupoglu, Erol, Heister, Angelien, Riazuddin, Saima, Bahat, Elif, Ansar, Muhammad, Arslan, Selcuk, Wollnik, Bernd, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Ahmad, Wasim, Cremers, Frans P.M., Vriend, Gert, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Kremer, Hannie
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
Get full text
Journal Article
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
Kalay, Ersan, Uzumcu, Abdullah, Krieger, Elmar, Çaylan, Refik, Uyguner, Oya, Ulubil-Emiroglu, Melike, Erdol, Hidayet, Kayserili, Hülya, Hafiz, Gunter, Başerer, Nermin, Heister, Angelien J.G.M., Hennies, Hans C., Nürnberg, Peter, Başaran, Seher, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Wollnik, Bernd, Kremer, Hannie
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
Get full text
Journal Article
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
Kalay, Ersan, Wollnik, Bernd, Yigit, Gökhan, Aslan, Yakup, Brown, Karen E, Pohl, Esther, Bicknell, Louise S, Kayserili, Hülya, Li, Yun, Tüysüz, Beyhan, Nürnberg, Gudrun, Kiess, Wieland, Koegl, Manfred, Baessmann, Ingelore, Buruk, Kurtulus, Toraman, Bayram, Kayipmaz, Saadettin, Kul, Sibel, Ikbal, Mevlit, Turner, Daniel J, Taylor, Martin S, Aerts, Jan, Scott, Carol, Milstein, Karen, Dollfus, Helene, Wieczorek, Dagmar, Brunner, Han G, Hurles, Matthew, Jackson, Andrew P, Rauch, Anita, Nürnberg, Peter, Karagüzel, Ahmet
Published in Nature genetics (01.01.2011)
Published in Nature genetics (01.01.2011)
Get full text
Journal Article
Involvement ofDFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
Collin, Rob W.J., Kalay, Ersan, Oostrik, Jaap, Çaylan, Refik, Wollnik, Bernd, Arslan, Selçuk, den Hollander, Anneke I., Birinci, Yelda, Lichtner, Peter, Strom, Tim M., Toraman, Bayram, Hoefsloot, Lies H., Cremers, Cor W.R.J., Brunner, Han G., Cremers, Frans P.M., Karaguzel, Ahmet, Kremer, Hannie
Published in Human mutation (01.07.2007)
Published in Human mutation (01.07.2007)
Get full text
Journal Article
Mutations of LRTOMT , a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Riazuddin, S Amer, Ayadi, Leila, Tlili, Abdelaziz, Masmoudi, Saber, Ahmed, Zubair M, Oostrik, Jaap, Ghorbel, Abdelmonem, Riazuddin, Sheikh, Charfedine, Ilhem, Griffith, Andrew J, Hmani-Aifa, Mounira, Kawar, Mayya N, Kalay, Ersan, Belyantseva, Inna A, Karaguzel, Ahmet, Venselaar, Hanka, Morell, Robert J, Mosrati, Mohamed Ali, Riazuddin, Saima, Khan, Shahid Y, Çaylan, Refik, Friedman, Thomas B, Kremer, Hannie, Ayadi, Hammadi, van der Zwaag, Bert, Collin, Rob W J
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
Get full text
Journal Article
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
Collin, Rob W.J., Kalay, Ersan, Oostrik, Jaap, Çaylan, Refik, Wollnik, Bernd, Arslan, Selçuk, den Hollander, Anneke I., Birinci, Yelda, Lichtner, Peter, Strom, Tim M., Toraman, Bayram, Hoefsloot, Lies H., Cremers, Cor W.R.J., Brunner, Han G., Cremers, Frans P.M., Karaguzel, Ahmet, Kremer, Hannie
Published in Human mutation (01.07.2007)
Published in Human mutation (01.07.2007)
Get full text
Journal Article
Chromosomal abnormalities in 457 Turkish patients with MCA/MR
Celep, Figen, Sönmez, Fatma Müjgan, Karagüzel, Ahmet
Published in Turkish journal of pediatrics (01.04.2006)
Get full text
Published in Turkish journal of pediatrics (01.04.2006)
Journal Article
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations
Kalay, Ersan, Caylan, Refik, Kremer, Hannie, de Brouwer, Arjan P.M., Karaguzel, Ahmet
Published in Hearing research (01.05.2005)
Published in Hearing research (01.05.2005)
Get full text
Journal Article
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
WATTENHOFER, Marie, SAHIN-CALAPOGLU, Nilüfer, ANTONARAKIS, Stylianos E, ANDREASEN, Ditte, KALAY, Ersan, CAYLAN, Refik, BRAILLARD, Bastien, FOWLER-JAEGER, Nicole, REYMOND, Alexandre, ROSSIER, Bernard C, KARAGUZEL, Ahmet
Published in Human genetics (01.10.2005)
Published in Human genetics (01.10.2005)
Get full text
Journal Article
Mutations of ESRAB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35
Collin, Rob WJ, Kalay, Ersan, Tariq, Muhammad, Peters, Theo, Zwaag, Bert van der, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Ahmed, Zubair M, Çaylan, Refik, Li, Yun, Spierenburg, Henk A, Eyupoglu, Erol, Heister, Angelien, Riazuddin, Saima, Bahat, Elit, Ansar, Muhammad, Arslan, Selcuk, Wolinik, Bernd, Brunner, Han G, Cremers, Cor WRJ, Karaguzel, Ahmet, Ahmad, Wasim, Cremers, Frans PM, Vriend, Gert, Friedman, Thomas B, Riazuddin, Sheikh, Leal, Suzanne M, Kremer, Hannie
Published in American journal of human genetics (10.01.2008)
Get full text
Published in American journal of human genetics (10.01.2008)
Journal Article
Pericentric inversion in chromosome 2(p11q13) in two cases
Celep, Figen, Karagüzel, Ahmet
Published in Eastern Journal of Medicine; Vol 13, No 1-2 (2008): January-December; 35-37 (22.02.2013)
Get more information
Published in Eastern Journal of Medicine; Vol 13, No 1-2 (2008): January-December; 35-37 (22.02.2013)
Journal Article
Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease
Sahin, Nilufer, Tan, Meliha, Kalay, Ersan, Calapoglu, Mustafa, Karaguzel, Ahmet
Published in International journal of neuroscience (01.06.2003)
Published in International journal of neuroscience (01.06.2003)
Get full text
Journal Article
Detection of Chromosomal Aberrations in Prostate Cancer by Fluorescence In Situ Hybridization (FISH)
Celep, Figen, Karagüzel, Ahmet, Özgür, Güner K, Yildiz, Kadriye
Published in European urology (01.12.2003)
Published in European urology (01.12.2003)
Get full text
Journal Article