Browsing by Author "Kang, Jenny"

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Alteration of exon definition causes amelogenesis imperfecta

Kim, Young-jae; Kang, Jenny; Seymen, Figen; Koruyucu, Mine; Zhang, Hong; Kasımoǧlu, Yelda; Bayram, Merve; Tuna-İnce, Elif Bahar; Bayrak, Şule; Tüloğlu, Nuray; Hu, Jan C.; Simmer, James P.; Kim, Jung-Wook (SAGE Publications Inc., 2020)

Amelogenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity of tooth enamel. More than 20 genes are, so far, known to be responsible for this condition. In this study, we recruited ...
Mutations in RELT cause autosomal recessive amelogenesis imperfecta

Kim, Jung-Wook; Zhang, Hong; Seymen, Figen; Koruyucu, Mine; Hu, Yuanyuan; Kang, Jenny; Kim, Youn Ju; Ikeda, Atsushi; Kasımoğlu, Yelda; Bayram, Merve; Zhang, Chuhua; Kawasaki, Kazuhiko; Bartlett, John D.; Saunders, Thomas L.; Simmer, James P.; Hu, Jan C-C. (Wiley, 2019)

Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families ...