Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hatice Ozturkmen-Akay"'
Autor:
Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, François G Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodríguez-Pombo, Nouriya Al-Sannaa, Mariela De Los Santos, Jordi Muchart López, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D Stoway, Rafael Artuch, Marjorie Dixon, Lars Mørkrid, Angeles García-Cazorla
Publikováno v:
Brain.
There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characte
Autor:
Mirace Yasemin Karadeniz Bilgili, Hatice Ozturkmen Akay, Kirikkale Universitesi Tip Fakultesi, Radyoloji Anabilim Dali, Kirikkale, Turkiye
Publikováno v:
Türk Radyoloji Seminerleri. 7:111-128
…
Autor:
Rodrigo Vinueza, Duygu Duman, Nejat Mahdieh, Muzeyyen Yildirim-Baylan, María de la Luz Arenas-Sordo, Santiago Mendoza-Benitez, Atefeh Shirkavand, Fabiola Huesca-Hernandez, Germania Moreta, Paola Montenegro, Edgar Hernández-Zamora, Oscar Diaz-Horta, Nazim Bozan, Sirous Zeinali, Gonca Sennaroglu, Susan H. Blanton, Mustafa Tekin, Armagan Incesulu, Suna Tokgoz-Yilmaz, Mortaza Bonyadi, F. Basak Cengiz, Guney Bademci, Hatice Ozturkmen-Akay, Asli Subasioglu, Juan Dominguez-Aburto, Franklin Villegas, Joseph Foster, Tulay Tos, Ibis Menéndez, Shengru Guo, Rosario Paredes
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity with reported mutations in 58 different genes. This study was designed to detect deafness causing variants in a multiethnic cohort w
Autor:
Duygu Duman, Hatice Ozturkmen-Akay, Muzeyyen Yildirim-Baylan, Suna Tokgoz-Yilmaz, Guney Bademci, Mustafa Tekin
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 78:950-953
Objectives The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype–phenotype correlations. Methods Twenty-two affected members from three families with homozygous OTOF mutations were inc
Autor:
Mustafa Tekin, Duygu Duman, Armagan Incesulu, S Taşır-Yılmaz, Seyra Erbek, Hatice Ozturkmen-Akay, Asli Sirmaci, Hilal Özdağ
Publikováno v:
Clinical Genetics. 75:562-567
Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), and identified
Autor:
Duygu Duman, Suna Tokgoz-Yilmaz, Hatice Ozturkmen-Akay, Seda Taşır-Yılmaz, Fazilet Altın, Asli Sirmaci, Hilal Özdağ, E. Berrin Yüksel-Konuk, Ismail Yilmaz, Müzeyyen Yıldırım, Suat Fitoz, Seyra Erbek, Burcu Öztürk-Hişmi, Mustafa Tekin, Abdullah Ayçiçek, Aylin Hasanefendioğlu-Bayrak, İdil Aslan, Filiz Basak Cengiz, Armagan Incesulu, Z. Serap Arıcı
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 73:699-705
Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing
Autor:
Hatice Ozturkmen-Akay, Yvonne J. K. Edwards, Duygu Duman, Suna Tokgoz-Yilmaz, Hilal Özdaḡ, Asli Sirmaci, Mustafa Tekin, Xue Zhong Liu, Armaḡan İncesulu, F. Basak Cengiz, Seyra Erbek
Publikováno v:
Genetic testing and molecular biomarkers. 14(4)
The identities and frequencies of MYO15A mutations associated with hearing loss in different populations remained largely unknown. We screened the MYO15A gene for mutations in 104 unrelated multiplex and consanguineous Turkish families with autosomal