Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands-Reference-Cited by-同舟云学术

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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

Published:2021-05-03 Issue:6 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Higuchi Yousuke¹^ORCID,Hasegawa Kosei²^ORCID,Futagawa Natsuko¹²,Yamashita Miho³,Tanaka Hiroyuki⁴,Tsukahara Hirokazu¹

Affiliation:

1. Department of Pediatrics Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan

2. Department of Pediatrics Okayama University Hospital Okayama Japan

3. Faculty of Human Life Sciences Notre Dame Seishin University Okayama Japan

4. Department of Pediatrics Okayama Saiseikai General Hospital Okayama Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1675

Reference57 articles.

1. Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta

2. A method and server for predicting damaging missense mutations

3. Outcome of the Patients Detected by Newborn Screening in Japan

4. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum

5. COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients;Current Issues in Molecular Biology;2024-04-29

2. Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta;Journal of Dental Research;2023-03-23

3. Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review;Endocrine Journal;2023

4. Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta;Genes;2022-09-02

5. Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta;Frontiers in Endocrinology;2022-07-14

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