Initial report of the osteogenesis imperfecta adult natural history initiative-Reference-Cited by-同舟云学术

Initial report of the osteogenesis imperfecta adult natural history initiative

Published:2015-11-14 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Tosi Laura L.,Oetgen Matthew E.,Floor Marianne K.,Huber Mary Beth,Kennelly Ann M.,McCarter Robert J.,Rak Melanie F.,Simmonds Barbara J.,Simpson Melissa D.,Tucker Carole A.,McKiernan Fergus E.

Funder

Ernst and Gertrude Ticho Charitable Foundation

George Washington University Medical Center Facilitating Fun

The Marshfield Clinic Center for Bone Disease

National Institutes of Health (NIH) National Center for Advancing Translational Sciences

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0362-2

Reference55 articles.

1. Inglefinger JR, Drazen JM. Patient organizations and research on rare diseases. N Engl J Med. 2011;364:1670–1.

2. Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2012;7:540–57.

3. Marini JC, Blissett AR. New genes in bone development: what’s new in osteogenesis imperfecta. J Clin Endocrinol Metab. 2013;98(8):3095–103.

4. Byers PH, Pyott SM. Recessively inherited forms of osteogenesis imperfecta. Annu Rev Genet. 2012;46:475–97.

5. Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013;50:345–8.

Cited by 49 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. The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults;2024-09-11

2. Evaluation of the Nordic Musculoskeletal Questionnaire for Measuring Prevalence and the Consequence of Pain in a Danish Adult OI Population: A Pilot Study;Calcified Tissue International;2024-07-27

3. Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta;Disability and Rehabilitation;2024-06-06

4. Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta;Calcified Tissue International;2024-05-02

5. The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers;Orphanet Journal of Rare Diseases;2024-03-21