Research of genetic bases of hereditary non-syndromic hearing loss

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Subasioglu A., DUMAN D., Sirmaci A., Bademci G., Carkit F., SOMDAŞ M. A., ...Daha Fazla

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.52, sa.3, ss.122-132, 2017 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 52 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.5152/turkpediatriars.2017.4254
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.122-132
  • Anahtar Kelimeler: Hearing loss, microarray, sequence, single nucleotide polymorphism, AUTOSOMAL-RECESSIVE DEAFNESS, CONNEXIN 26 GENE, GJB2 MUTATIONS, TURKISH POPULATION, IMPAIRED PATIENTS, 35DELG MUTATION, HIGH PREVALENCE, TMIE, VARIANTS, FAMILIES
  • Ankara Üniversitesi Adresli: Evet

Özet

Aim: Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families.