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There are 323001 results for: content related to: The signature of craniofacial deformation in fibrodysplasia ossificans progressiva

  1. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 379–390, Frederick S. Kaplan, Meiqi Xu, Petra Seemann, J. 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 and Eileen M. Shore

    Article first published online : 9 DEC 2008, DOI: 10.1002/humu.20868

  2. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

    Clinical Genetics

    Volume 77, Issue 2, February 2010, Pages: 171–176, DR Carvalho, MMM Navarro, BJAF Martins, KEFA Coelho, WD Mello, RI Takata and CE Speck-Martins

    Article first published online : 1 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01256.x

  3. New Protocol to Optimize iPS Cells for Genome Analysis of Fibrodysplasia Ossificans Progressiva

    STEM CELLS

    Volume 33, Issue 6, June 2015, Pages: 1730–1742, Yoshihisa Matsumoto, Makoto Ikeya, Kyosuke Hino, Kazuhiko Horigome, Makoto Fukuta, Makoto Watanabe, Sanae Nagata, Takuya Yamamoto, Takanobu Otsuka and Junya Toguchida

    Article first published online : 21 MAY 2015, DOI: 10.1002/stem.1981

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    Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1

    Journal of Bone and Mineral Research

    Volume 27, Issue 3, March 2012, Pages: 729–737, Michael P Whyte, Deborah Wenkert, Jennifer L Demertzis, Edward F DiCarlo, Erica Westenberg and Steven Mumm

    Article first published online : 21 FEB 2012, DOI: 10.1002/jbmr.1473

  5. Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or—how does one tissue become another?

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 1, Issue 1, January/February 2012, Pages: 153–165, Eileen M. Shore

    Article first published online : 21 NOV 2011, DOI: 10.1002/wdev.9

  6. Fibrodysplasia Ossificans Progressiva

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Frederick S. Kaplan, Eileen M. Shore, J. Michael Connor, Pages: 827–840, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch21

  7. Improvement of mouth opening for a patient with fibrodysplasia ossificans progressiva: a case report

    Special Care in Dentistry

    Volume 31, Issue 6, November/December 2011, Pages: 220–225, Júlia Maria Braga, Maria Fernanda Andrade Marques Silva, Luis Cândido Pinto da Silva, Paulo Isaías Seraidarian and Roberval de Almeida Cruz

    Article first published online : 10 NOV 2011, DOI: 10.1111/j.1754-4505.2011.00216.x

  8. Facial morphology and occlusion of a patient with fibrodysplasia ossificans progressiva (FOP): a case report

    Special Care in Dentistry

    Volume 32, Issue 4, July/August 2012, Pages: 165–170, Takafumi Susami, Yoshiyuki Mori, Kazumi Tamura, Kazumi Ohkubo, Kouhei Nagahama, Naoko Takahashi, Natsuko Uchino, Kiwako Uwatoko, Nobuhiko Haga and Tsuyoshi Takato

    Article first published online : 11 JUL 2012, DOI: 10.1111/j.1754-4505.2012.00260.x

  9. Chapter 94. Fibrodysplasia (Myositis) Ossificans Progressiva

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

    Frederick S. Kaplan, Eileen M. Shore, Pages: 442–446, 2009

    Published Online : 23 DEC 2009, DOI: 10.1002/9780470623992.ch94

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    Hyperactive BMP signaling induced by ALK2R206H requires type II receptor function in a Drosophila model for classic fibrodysplasia ossificans progressiva

    Developmental Dynamics

    Volume 241, Issue 1, January 2012, Pages: 200–214, Viet Q. Le and Kristi A. Wharton

    Article first published online : 15 DEC 2011, DOI: 10.1002/dvdy.22779

  11. Classical and Atypical Fibrodysplasia Ossificans Progressiva in India

    Annals of Human Genetics

    Volume 79, Issue 4, July 2015, Pages: 245–252, Vrisha Madhuri, Mona Santhanam, Legasri K Sugumar, Karthikeyan Rajagopal and Sanjay K Chilbule

    Article first published online : 9 JUN 2015, DOI: 10.1111/ahg.12112

  12. The face signature of fibrodysplasia ossificans progressiva

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1368–1380, Peter Hammond, Michael Suttie, Raoul C. Hennekam, Judith Allanson, Eileen M. Shore and Frederick S. Kaplan

    Article first published online : 11 MAY 2012, DOI: 10.1002/ajmg.a.35346

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    Pathogenic Mutation of ALK2 Inhibits Induced Pluripotent Stem Cell Reprogramming and Maintenance: Mechanisms of Reprogramming and Strategy for Drug Identification

    STEM CELLS

    Volume 30, Issue 11, November 2012, Pages: 2437–2449, Makoto Hamasaki, Yoshinobu Hashizume, Yoshinori Yamada, Tomohiko Katayama, Hirohiko Hohjoh, Noemi Fusaki, Yasuharu Nakashima, Hirokazu Furuya, Nobuhiko Haga, Yoichiro Takami and Takumi Era

    Article first published online : 22 OCT 2012, DOI: 10.1002/stem.1221

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    An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva

    Journal of Bone and Mineral Research

    Volume 27, Issue 8, August 2012, Pages: 1746–1756, Salin A Chakkalakal, Deyu Zhang, Andria L Culbert, Michael R Convente, Robert J Caron, Alexander C Wright, Andrew DA Maidment, Frederick S Kaplan and Eileen M Shore

    Article first published online : 17 JUL 2012, DOI: 10.1002/jbmr.1637

  15. Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2265–2271, Frederick S. Kaplan, Joyce A. Kobori, Carmen Orellana, Inmaculada Calvo, Monica Rosello, Francisco Martinez, Berta Lopez, Meiqi Xu, Robert J. Pignolo, Eileen M. Shore and Jay C. Groppe

    Article first published online : 11 JUN 2015, DOI: 10.1002/ajmg.a.37205

  16. Oral management in a patient with fibrodysplasia ossificans progressiva

    Special Care in Dentistry

    Volume 27, Issue 3, May 2007, Pages: 101–104, Justin M. Young, Robert J. Diecidue and Burton L. Nussbaum

    Article first published online : 25 MAR 2008, DOI: 10.1111/j.1754-4505.2007.tb01748.x

  17. Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva

    American Journal of Medical Genetics

    Volume 102, Issue 4, 1 September 2001, Pages: 314–317, Olivier Sémonin, Karine Fontaine, Christian Daviaud, Carmen Ayuso and Gérard Lucotte

    Article first published online : 16 JUL 2001, DOI: 10.1002/ajmg.1504

  18. Dysregulation of the BMP-4 Signaling Pathway in Fibrodysplasia Ossificans Progressiva

    Annals of the New York Academy of Sciences

    Volume 1068, Issue 1, April 2006, Pages: 54–65, FREDERICK S. KAPLAN, JENNIFER FIORI, LOURDES SERRANO DE LA PEÑA, JAIMO AHN, PAUL C. BILLINGS and EILEEN M. SHORE

    Article first published online : 30 MAY 2006, DOI: 10.1196/annals.1346.008

  19. A description of two surgical and anesthetic management techniques used for a patient with fibrodysplasia ossificans progressiva

    Special Care in Dentistry

    Volume 30, Issue 3, May/June 2010, Pages: 106–109, Rose Wadenya, Megan Fulcher, Tal Grunwald, Burton Nussbaum and Zvi Grunwald

    Article first published online : 12 APR 2010, DOI: 10.1111/j.1754-4505.2010.00133.x

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    Dysregulation of the BMP-p38 MAPK Signaling Pathway in Cells From Patients With Fibrodysplasia Ossificans Progressiva (FOP)

    Journal of Bone and Mineral Research

    Volume 21, Issue 6, June 2006, Pages: 902–909, Jennifer L Fiori, Paul C Billings, Lourdes Serrano de la Peña, Frederick S Kaplan and Eileen M Shore

    Article first published online : 27 FEB 2006, DOI: 10.1359/jbmr.060215