Refik Çaylan

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Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive autosomal dominant (DFNA36) nonsyndromic hearing loss. To determine the genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in the northeast and east of Turkey, 65 unrelated families without mutations in(More)
Many proteins necessary for sound transduction have been identified through positional cloning of genes that cause deafness. We report here that mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3–q13.4. LRTOMT has two alternative reading frames and encodes two different proteins,(More)
Mutations in the connexin 26 gene (GJB2) cause a significant proportion of prelingual non-syndromic autosomal recessive deafness in all populations studied so far. To determine the percentage of hearing loss attributed to GJB2 in northeast Turkey, 93 unrelated patients with autosomal recessive non-syndromic hearing loss (ARNSHL) were screened. Seven(More)
This cross-sectional study was undertaken to assess the prevalence and risk factors for otitis media with effusion (OME) in Trabzon, a city in northeastern Turkey, and evaluate the need for screening for OME in the normal population. In kindergartens, daycare centers, public and private schools in the rural and central areas of Trabzon, 1,077 children aged(More)
Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant(More)
Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for its function. TMPRSS3 undergoes(More)
Homozygosity mapping and linkage analysis in a Turkish family with autosomal recessive prelingual sensorineural hearing loss revealed a 15-cM critical region at 17q25.1–25.3 flanked by the polymorphic markers D17S1807 and D17S1806. The maximum two-point lod score was 4.07 at θ=0.0 for the marker D17S801. The linkage interval contains the Usher syndrome 1G(More)
Concha bullosa is one of the most common, obstructive, anatomic variants seen in patients with sinusitis. In this study, a total of 160 patients with sinusitis were evaluated to study both the effects of concha bullosa on the distribution of opacification to the paranasal sinuses as well as the relations between the types of concha bullosa (CB) and(More)
The aim of this study was to compare anatomic and audiological results of cartilage graft with temporal fascia graft in type 1 tympanoplasty patients with low middle ear risk index (MERI). In this retrospective study, 63 patients that underwent type 1 tympanoplasty with chondroperichondrial island graft between July 2009 and November 2010 were compared with(More)
 Objective: To present a 42-year-old female patient with multifocal cavernous hemangioma of the skull associated with nasal osteoma.  Design: A case report.  Intervention methods: X-rays, computerized tomography, magnetic resonance imaging, and histopathology were used to achieve the diagnosis of this rare entity. The multiple cavernous hemangiomas were(More)