Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey-Reference-Cited by-同舟云学术

Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey

Published:2021-01-01 Issue:1 Volume:25 Page:59-67
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Demir Selma¹,Yalçıntepe Sinem¹,Atlı Emine İkbal¹,Sanrı Aslıhan²,Yıldırım Ruken³,Tütüncüler Filiz⁴,Çelik Mehmet⁵,Atlı Engin¹,Özemri Sağ Şebnem⁶,Eker Damla¹,Temel Sehime⁶,Gürkan Hakan¹

Affiliation:

1. Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey.

2. Department of Pediatrics, Samsun Ondokuz Mayıs Üniversitesi, Samsun, Turkey.

3. Department of Pediatric Endocrinology, Diyarbakır Hospital of Pediatric Diseases, Diyarbakır, Turkey.

4. Department of Pediatric Endocrinology and Trakya University Faculty of Medicine, Edirne, Turkey.

5. Department of Endocrinology, Trakya University Faculty of Medicine, Edirne, Turkey.

6. Department of Medical Genetics, Faculty of Medicine, Uludağ University, Bursa, Turkey.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2020.0169

Reference47 articles.

1. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

2. A global reference for human genetic variation

3. Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

4. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

5. A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

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1. Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review;Biomedicines;2022-09-22

2. Knocking out TMEM38B in human foetal osteoblasts hFOB 1.19 by CRISPR/Cas9: A model for recessive OI type XIV;PLOS ONE;2021-09-28