Sage Journals: Discover world-class research

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Research article

First published 2017

Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus

Laura Tanner, Paula Vainio, Minna Sandell [...]

Pediatric and Developmental Pathology

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Research article

First published 2009-6

Mutations in COL1A1 of Type I Collagen Genes in Chinese Patients with Osteogenesis Imperfecta

Zhuo Wang, Zheng Yang, Zunfu Ke [...]

Journal of Investigative Medicine

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Research article

First published 2002-2

Similar COL1A1 Expression in Fibroblasts from Some Patients with Clinical Otosclerosis and Those with Type I Osteogenesis Imperfecta

Michael J. McKenna, Arthur G. Kristiansen, Anke S. Tropitzsch

Annals of Otology,Rhinology & Laryngology

Open access

Case report

First published 2025

Blue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis

Saad Hayat, Ahmad Roshan Mayan, Malik WZ Khan [...]

Journal of Investigative Medicine High Impact Case Reports

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Research article

First published 2005-1

A Novel Col1A1 Mutation in Infantile Cortical Hyperostosis (Caffey Disease) Expands the Spectrum of Collagen-Related Disorders

R.C. Gensure, O. Mäkitie, C. Barclay [...]

Journal of Investigative Medicine

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Research article

First published 2016-7

Craniofacial and Dental Defects in the Col1a1 Jrt/+ Mouse Model of Osteogenesis Imperfecta

H. Eimar, F. Tamimi, J.-M. Retrouvey [...]

Journal of Dental Research

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Other

First published 2010-01

Leg Pain in an Infant

Jennifer T. Haile, Vanessa G. Carroll, Russell W. Steele

Clinical Pediatrics

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Case report

First published 2011-5

Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Fleur S. van Dijk, Peter G.J. Nikkels, Nicolette S. den Hollander [...]

Pediatric and Developmental Pathology

Open access

Research article

First published 2021-9

Analysis of the Genetic Characteristics of a Chinese Family With Otosclerosis

Yongli Zhang, Qi Tang, Ruoyan Xue [...]

Ear,Nose & Throat Journal

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Research article

First published 1999-12

A Mutation-Independent Therapeutic Strategem for Osteogenesis Imperfecta

Sophia Millington-Ward, Brian O'neill, Anna-Sophia Kiang [...]

Nucleic Acid Therapeutics

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