Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing

Anik, Ahmet; Catli, Gonul; ABACI, AYHAN; Sari, Erkan; Yesilkaya, Ediz; Korkmaz, Huseyin; DEMİR, KORCAN; Altincik, Ayca; Tuhan, HALE; KIZILDAĞ, SEFA; Ozkan, Behzat; Ceylaner, Serdar; Bober, Ece

doi:10.1515/jpem-2014-0430

Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing

Anik A., Catli G., ABACI A., Sari E., Yesilkaya E., Korkmaz H. A., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, sa.11-12, ss.1265-1271, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 28 Sayı: 11-12
Basım Tarihi: 2015
Doi Numarası: 10.1515/jpem-2014-0430
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1265-1271
Anahtar Kelimeler: childhood, MODY, next-generation sequencing, CLINICAL CHARACTERISTICS, GLUCOKINASE MUTATIONS, GENE, MELLITUS, GCK, ADOLESCENTS, HNF-1-ALPHA, TYPE-2, HNF1A, HYPERGLYCEMIA
Akdeniz Üniversitesi Adresli: Hayır

Özet

Aim: To perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship.