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Ahmet Karaguzel

Research Profile

Concepts & Ideas

Physiology

Procedures

Disorders

Hearing Loss

Genes & Molecular Sequences

Geographic Areas

Turkey

Chemicals & Drugs

Anatomy

Chromosomes, Human, Pair 11

Co-author Network

Publications

TOP 3
Zubair M Ahmed; Saber Masmoudi; Ersan Kalay; Inna A Belyantseva; Mohamed Ali Mosrati; Rob W J Collin; Saima Riazuddin; Mounira Hmani-Aifa; Hanka Venselaar; Mayya N Kawar; Abdelaziz Tlili; Bert van der Zwaag; Shahid Y Khan; Leila Ayadi; Sheikh Amer Riazuddin; Robert J Morell; Andrew J Griffith; Ilhem Charfedine; Refik Caylan; Jaap Oostrik; Ahmet Karaguzel; Abdelmonem Ghorbel; Sheikh Riazuddin; Thomas B Friedman; Hammadi Ayadi; Hannie Kremer
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Rob W J Collin; Ersan Kalay; Muhammad Tariq; Theo Peters; Bert van der Zwaag; Hanka Venselaar; Jaap Oostrik; Kwanghyuk Lee; Zubair M Ahmed; Refik Caylan; Yun Li; Henk A Spierenburg; Erol Eyupoglu; Angelien Heister; Saima Riazuddin; Elif Bahat; Muhammad Ansar; Selcuk Arslan; Bernd Wollnik; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Wasim Ahmad; Frans P M Cremers; Gert Vriend; Thomas B Friedman; Sheikh Amer Riazuddin; Suzanne M Leal; Hannie Kremer
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Ersan Kalay; Abdullah Uzumcu; Elmar Krieger; Refik Caylan; Oya Uyguner; Melike Ulubil-Emiroglu; Hidayet Erdol; Hulya Kayserili; Gunter Hafiz; Nermin Başerer; Angelien J G M Heister; Hans Christian Hennies; Peter Nürnberg; Seher Başaran; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Bernd Wollnik; Hannie Kremer
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

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All Publications

2008: Zubair M Ahmed; Saber Masmoudi; Ersan Kalay; Inna A Belyantseva; Mohamed Ali Mosrati; Rob W J Collin; Saima Riazuddin; Mounira Hmani-Aifa; Hanka Venselaar; Mayya N Kawar; Abdelaziz Tlili; Bert van der Zwaag; Shahid Y Khan; Leila Ayadi; Sheikh Amer Riazuddin; Robert J Morell; Andrew J Griffith; Ilhem Charfedine; Refik Caylan; Jaap Oostrik; Ahmet Karaguzel; Abdelmonem Ghorbel; Sheikh Riazuddin; Thomas B Friedman; Hammadi Ayadi; Hannie Kremer
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Nature genetics 2008;40(11):1335-40.
2008: Rob W J Collin; Ersan Kalay; Muhammad Tariq; Theo Peters; Bert van der Zwaag; Hanka Venselaar; Jaap Oostrik; Kwanghyuk Lee; Zubair M Ahmed; Refik Caylan; Yun Li; Henk A Spierenburg; Erol Eyupoglu; Angelien Heister; Saima Riazuddin; Elif Bahat; Muhammad Ansar; Selcuk Arslan; Bernd Wollnik; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Wasim Ahmad; Frans P M Cremers; Gert Vriend; Thomas B Friedman; Sheikh Amer Riazuddin; Suzanne M Leal; Hannie Kremer
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
American journal of human genetics 2008;82(1):125-38.
2007: Ersan Kalay; Abdullah Uzumcu; Elmar Krieger; Refik Caylan; Oya Uyguner; Melike Ulubil-Emiroglu; Hidayet Erdol; Hulya Kayserili; Gunter Hafiz; Nermin Başerer; Angelien J G M Heister; Hans Christian Hennies; Peter Nürnberg; Seher Başaran; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Bernd Wollnik; Hannie Kremer
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
American journal of medical genetics. Part A 2007;143A(20):2382-9.
2007: Rob W J Collin; Ersan Kalay; Jaap Oostrik; Refik Caylan; Bernd Wollnik; Selçuk Arslan; Anneke I den Hollander; Yelda Birinci; Peter Lichtner; Tim M Strom; Bayram Toraman; Lies Hoefsloot; Cor W R J Cremers; Han G Brunner; Frans P M Cremers; Ahmet Karaguzel; Hannie Kremer
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Human mutation 2007;28(7):718-23.
2007: Ersan Kalay; Refik Caylan; A F Kiroglu; tekin yasar; Rob W J Collin; J G A M Heister; Jaap Oostrik; Cor W R J Cremers; Han G Brunner; Ahmet Karaguzel; Hannie Kremer
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.
Journal of molecular medicine (Berlin, Germany) 2007;85(4):397-404.
2006: Ersan Kalay; Yun Li; Abdullah Uzumcu; Oya Uyguner; Rob W J Collin; Refik Caylan; Melike Ulubil-Emiroglu; Ferry F J Kersten; Gunter Hafiz; Erwin van Wijk; Hulya Kayserili; Edyta Rohmann; Janine Wagenstaller; Lies Hoefsloot; Tim M Strom; Gudrun Nürnberg; Nermin Baserer; Anneke I den Hollander; Frans P M Cremers; Cor W R J Cremers; Christian Becker; Han G Brunner; Peter Nürnberg; Ahmet Karaguzel; Seher Basaran; Christian Kubisch; Hannie Kremer; Bernd Wollnik
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Human mutation 2006;27(7):633-9.
2005: Ersan Kalay; Ahmet Karaguzel; Refik Caylan; A Heister; Frans P M Cremers; Cor W R J Cremers; Han G Brunner; Arjan de Brouwer; Hannie Kremer
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Human mutation 2005;26(6):591.
2005: Ersan Kalay; Arjan de Brouwer; Refik Caylan; Sander B Nabuurs; Bernd Wollnik; Ahmet Karaguzel; J G A M Heister; Hidayet Erdol; Frans P M Cremers; Cor W R J Cremers; Han G Brunner; Hannie Kremer
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Journal of molecular medicine (Berlin, Germany) 2005;83(12):1025-32.
2005: Marie Wattenhofer; Nilüfer Sahin-Calapoglu; Ditte Andreasen; Ersan Kalay; Refik Caylan; Bastien Braillard; Nicole Fowler Jaeger; Alexandre Reymond; Bernard C Rossier; Ahmet Karaguzel; Stylianos E Antonarakis
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Human genetics 2005;117(6):528-35.
2005: Ersan Kalay; Refik Caylan; Hannie Kremer; Arjan de Brouwer; Ahmet Karaguzel
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.
Hearing research 2005;203(1-2):88-93.
2003: Nilufer Sahin; Meliha Tan; Ersan Kalay; Mustafa Calapoglu; Ahmet Karaguzel
Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
The International journal of neuroscience 2003;113(6):777-85.