Literature DB >> 25604857

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Nathalie Bravenboer1, Dimitra Micha1, James T Triffit2, Alex N Bullock3, Roberto Ravazollo4, Renata Bocciardi5, Maja di Rocco5, J Coen Netelenbos1, Peter Ten Dijke6, Gonzalo Sánchez-Duffhues6, Fred S Kaplan7, Eileen M Shore7, Robert J Pignolo7, Petra Seemann8, Francesc Ventura9, Genevieve Beaujat10, Elizabeth M W Eekhoff1, Gerard Pals1.   

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Year:  2015        PMID： 25604857      PMCID： PMC4592076          DOI： 10.1038/ejhg.2014.274

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  19 in total

1.  ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.

Authors:  Julia Haupt; Alexandra Deichsel; Katja Stange; Cindy Ast; Renata Bocciardi; Roberto Ravazzolo; Maja Di Rocco; Paola Ferrari; Antonio Landi; Frederick S Kaplan; Eileen M Shore; Carsten Reissner; Petra Seemann
Journal:  Hum Mol Genet       Date:  2014-05-22       Impact factor: 6.150

2.  Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

Authors:  Christopher P Barnett; Manish Dugar; Eric A Haan
Journal:  Am J Med Genet A       Date:  2011-05-12       Impact factor: 2.802

3.  Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

Authors:  Mutlu Kartal-Kaess; Eileen M Shore; Meiqi Xu; Ludwig Schwering; Markus Uhl; Rudolf Korinthenberg; Charlotte Niemeyer; Frederick S Kaplan; Melchior Lauten
Journal:  Eur J Pediatr       Date:  2010-06-26       Impact factor: 3.183

4.  The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients.

Authors:  R B Cohen; G V Hahn; J A Tabas; J Peeper; C L Levitz; A Sando; N Sando; M Zasloff; F S Kaplan
Journal:  J Bone Joint Surg Am       Date:  1993-02       Impact factor: 5.284

Review 5.  Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons.

Authors:  Robert J Pignolo; Eileen M Shore; Frederick S Kaplan
Journal:  Pediatr Endocrinol Rev       Date:  2013-06

Review 6.  Inherited human diseases of heterotopic bone formation.

Authors:  Eileen M Shore; Frederick S Kaplan
Journal:  Nat Rev Rheumatol       Date:  2010-08-10       Impact factor: 20.543

7.  Early diagnosis of fibrodysplasia ossificans progressiva.

Authors:  Frederick S Kaplan; Meiqi Xu; David L Glaser; Felicity Collins; Michael Connor; Joseph Kitterman; David Sillence; Elaine Zackai; Vardit Ravitsky; Michael Zasloff; Arupa Ganguly; Eileen M Shore
Journal:  Pediatrics       Date:  2008-05       Impact factor: 7.124

8.  Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients.

Authors:  J M Connor; D A Evans
Journal:  J Bone Joint Surg Br       Date:  1982

9.  Circumscribed myositis ossificans of the masseter muscle: report of a case.

Authors:  P Piombino; G Dell'Aversana Orabona; V Abbate; G Fini; G M Liberatore; E Mici; E Belli
Journal:  G Chir       Date:  2013 Sep-Oct

Review 10.  Fibrodysplasia ossificans progressiva: clinical and genetic aspects.

Authors:  Robert J Pignolo; Eileen M Shore; Frederick S Kaplan
Journal:  Orphanet J Rare Dis       Date:  2011-12-01       Impact factor: 4.123
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  7 in total

1.  A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders.

Authors:  Sanne Treurniet; Elisabeth M W Eekhoff; Felix N Schmidt; Dimitra Micha; Björn Busse; Nathalie Bravenboer
Journal:  Front Endocrinol (Lausanne)       Date:  2020-06-23       Impact factor: 5.555

2.  The effect of Activin-A on periodontal ligament fibroblasts-mediated osteoclast formation in healthy donors and in patients with fibrodysplasia ossificans progressiva.

Authors:  Ton Schoenmaker; Fenne Wouters; Dimitra Micha; Tim Forouzanfar; Coen Netelenbos; E Marelise W Eekhoff; Nathalie Bravenboer; Teun J de Vries
Journal:  J Cell Physiol       Date:  2018-11-11       Impact factor: 6.384

3.  Activin-A Induces Fewer, but Larger Osteoclasts From Monocytes in Both Healthy Controls and Fibrodysplasia Ossificans Progressiva Patients.

Authors:  Ton Schoenmaker; Esmée Botman; Merve Sariyildiz; Dimitra Micha; Coen Netelenbos; Nathalie Bravenboer; Angele Kelder; E Marelise W Eekhoff; Teun J De Vries
Journal:  Front Endocrinol (Lausanne)       Date:  2020-07-14       Impact factor: 5.555

4.  Fibrodysplasia ossificans progressiva with two emergency laparotomies: A case report.

Authors:  Nobuyuki Okamoto; Tatsuya Tazaki; Ryuta Shintakuya; Toshinori Hirano; Masaru Sasaki; Shinya Takahashi; Astushi Nakamitsu
Journal:  Int J Surg Case Rep       Date:  2020-07-16

5.  Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva.

Authors:  Esmée Botman; Bernd P Teunissen; Pieter Raijmakers; Pim de Graaf; Maqsood Yaqub; Sanne Treurniet; Ton Schoenmaker; Nathalie Bravenboer; Dimitra Micha; Gerard Pals; Arend Bökenkamp; J Coen Netelenbos; Adriaan A Lammertsma; Elisabeth Mw Eekhoff
Journal:  JBMR Plus       Date:  2020-04-28

6.  Flare-Up After Maxillofacial Surgery in a Patient With Fibrodysplasia Ossificans Progressiva: An [18F]-NaF PET/CT Study and a Systematic Review.

Authors:  E Marelise W Eekhoff; J Coen Netelenbos; Pim de Graaf; Max Hoebink; Nathalie Bravenboer; Dimitra Micha; Gerard Pals; Teun J de Vries; Adriaan A Lammertsma; Pieter Ghm Raijmakers; Robert Jj van Es
Journal:  JBMR Plus       Date:  2017-07-05

7.  Inhibition of phosphatidylinositol 3-kinase α (PI3Kα) prevents heterotopic ossification.

Authors:  José Antonio Valer; Cristina Sánchez-de-Diego; Beatriz Gámez; Yuji Mishina; José Luis Rosa; Francesc Ventura
Journal:  EMBO Mol Med       Date:  2019-08-02       Impact factor: 12.137
  7 in total

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