Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry-Reference-Cited by-同舟云学术

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Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry

Published:2020-05 Issue: Volume:134 Page:115274
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Pignolo Robert J.,Cheung Kin,Kile Sammi,Fitzpatrick Mary Anne,De Cunto Carmen,Al Mukaddam Mona,Hsiao Edward C.,Baujat Genevieve,Delai Patricia,Eekhoff Elisabeth M.W.,Di Rocco Maja,Grunwald Zvi,Haga Nobuhiko,Keen Richard,Levi Benjamin,Morhart Rolf,Scott Christiaan^ORCID,Sherman Adam,Zhang Keqin,Kaplan Fredrick S.

Funder

IFOPA

Radiant Hope Foundation

Robert and Arlene Kogod Professorship

Isaac & Rose Nassau Professorship of Orthopaedic Molecular Medicine

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. Clinical utility gene card for: fibrodysplasia ossificans progressiva;Bravenboer;Eur. J. Hum. Genet.,2015

2. Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons;Pignolo;Pediatr. Endocrinol. Rev.,2013

3. Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases;Baujat;Orphanet J. Rare Dis.,2017

4. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1;Kaplan;Hum. Mutat.,2009

5. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva;Shore;Nat. Genet.,2006

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1. Fibrodysplasia ossificans progressiva (clinical observation with a brief review of the literature);N.N. Priorov Journal of Traumatology and Orthopedics;2024-07-04

2. Tracheostomy for the pediatric patient with fibrodysplasia ossificans progressiva: a case report;Surgical Case Reports;2024-03-15

3. Sex as a Critical Variable in Basic and Pre-Clinical Studies of Fibrodysplasia Ossificans Progressiva;Biomolecules;2024-02-01

4. Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of Mobility;Clinical Orthopaedics & Related Research;2023-05-08

5. The Fibrodysplasia Ossificans Progressiva Physical Function Questionnaire (FOP-PFQ): A patient-reported, disease-specific measure;Bone;2023-03

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