PMC Links for OMIM (Select 135100) - PMC

Result Filters

Links from OMIM

Items: 13

Select item 33564381.

The Face Signature of Fibrodysplasia Ossificans Progressiva

Peter Hammond, Michael Suttie, Raoul C. Hennekam, Judith Allanson, Eileen M. Shore, Frederick S. Kaplan

Am J Med Genet A. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Am J Med Genet A. 2012 Jun; 158A(6): 1368–1380. Published online 2012 May 11. doi: 10.1002/ajmg.a.35346

PMCID:: PMC3356438

Abstract Article PDF–2.0M

Select item 31604622.

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

Celia L. Gregson, Peter Hollingworth, Martin Williams, Kirsten A. Petrie, Alex N. Bullock, Matthew A. Brown, Jon H. Tobias, James T. Triffitt

Bone. Author manuscript; available in PMC 2011 Aug 23.

Published in final edited form as: Bone. 2011 Mar 1; 48(3): 654–658. Published online 2010 Oct 29. doi: 10.1016/j.bone.2010.10.164

PMCID:: PMC3160462

Abstract Article PDF–1.1M

Select item 30730313.

Potent Inhibition of Heterotopic Ossification by Nuclear Retinoic Acid Receptor ? Agonists

Kengo Shimono, Wei-en Tung, Christine Macolino, Amber Hsu-Tsai Chi, Johanna J. Didizian, Christina Mundy, Roshantha A. Chandraratna, Yuji Mishina, Motomi Enomoto Iwamoto, Maurizio Pacifici, Masahiro Iwamoto

Nat Med. Author manuscript; available in PMC 2011 Oct 3.

Published in final edited form as: Nat Med. 2011 Apr; 17(4): 454–460. Published online 2011 Apr 3. doi: 10.1038/nm.2334

Correction in:: volume 18 on page 1592

PMCID:: PMC3073031

Abstract Article PDF–1.7M

Select item 29861774.

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco, Roberto Ravazzolo

Eur J Hum Genet. 2009 Mar; 17(3): 311–318. Published online 2008 Oct 1. doi: 10.1038/ejhg.2008.178

PMCID:: PMC2986177

Abstract Article PDF–280K

Select item 29218615.

Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR1

Frederick S. Kaplan, Meiqi Xu, Petra Seemann, Michael Connor, David L. Glaser, Liam Carroll, Patricia Delai, Elisabeth Fastnacht-Urban, Stephen J. Forman, Gabriele Gillessen-Kaesbach, Julie Hoover-Fong, Bernhard Köster, Richard M. Pauli, William Reardon, Syed-Adeel Zaidi, Michael Zasloff, Rolf Morhart, Stefan Mundlos, Jay Groppe, Eileen M. Shore

Hum Mutat. Author manuscript; available in PMC 2010 Aug 16.

Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): 379–390. doi: 10.1002/humu.20868

PMCID:: PMC2921861

Abstract Article PDF–1.1M

Select item 26588876.

Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Kirsten A. Petrie, Wen Hwa Lee, Alex N. Bullock, Jenny J. Pointon, Roger Smith, R. Graham G. Russell, Matthew A. Brown, B. Paul Wordsworth, James T. Triffitt

PLoS One. 2009; 4(3): e5005. Published online 2009 Mar 30. doi: 10.1371/journal.pone.0005005

PMCID:: PMC2658887

Abstract Article PDF–175K

Select item 20321477.

Histochemical and ultrastructural studies in fibrodysplasia ossificans progressiva (myositis ossificans progressiva).

W. A. Maxwell, S. S. Spicer, R. L. Miller, P. V. Halushka, M. C. Westphal, M. E. Setser

Am J Pathol. 1977 Jun; 87(3): 483–498.

PMCID:: PMC2032147

Summary Page Browse PDF–4.1M

Select item 16186448.

Transgenic Mice Overexpressing BMP4 Develop a Fibrodysplasia Ossificans Progressiva (FOP)-Like Phenotype

Lixin Kan, Min Hu, William A. Gomes, John A. Kessler

Am J Pathol. 2004 Oct; 165(4): 1107–1115. doi: 10.1016/S0002-9440(10)63372-X

PMCID:: PMC1618644

Abstract Article PDF–2.4M

Select item 12883179.

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, J. Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. Michael Connor, James Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan, Eileen M. Shore

Am J Hum Genet. 2000 Jan; 66(1): 128–135. Published online 1999 Dec 7. doi: 10.1086/302724