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There are 5328 results for: content related to: A co-occurrence of osteogenesis imperfecta type VI and cystinosis

  1. Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 175–189, Marianne Rohrbach and Cecilia Giunta

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31334

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    A Mouse Model for Human Osteogenesis Imperfecta Type VI

    Journal of Bone and Mineral Research

    Volume 28, Issue 7, July 2013, Pages: 1531–1536, Rosalind Bogan, Ryan C Riddle, Zhu Li, Sarvesh Kumar, Anjali Nandal, Marie-Claude Faugere, Adele Boskey, Susan E Crawford and Thomas L Clemens

    Article first published online : 18 JUN 2013, DOI: 10.1002/jbmr.1892

  3. Osteogenesis Imperfecta

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

    Peter H. Byers, William G. Cole, Pages: 385–430, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch8

  4. You have full text access to this OnlineOpen article
    Mutations in SERPINF1 cause osteogenesis imperfecta type VI

    Journal of Bone and Mineral Research

    Volume 26, Issue 12, December 2011, Pages: 2798–2803, Erica P Homan, Frank Rauch, Ingo Grafe, Caressa Lietman, Jennifer A Doll, Brian Dawson, Terry Bertin, Dobrawa Napierala, Roy Morello, Richard Gibbs, Lisa White, Rika Miki, Daniel H Cohn, Susan Crawford, Rose Travers, Francis H Glorieux and Brendan Lee

    Article first published online : 21 NOV 2011, DOI: 10.1002/jbmr.487

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    A new culprit in osteogenesis imperfecta

    Journal of Bone and Mineral Research

    Volume 26, Issue 12, December 2011, Pages: 2795–2797, Emily L Germain-Lee

    Article first published online : 21 NOV 2011, DOI: 10.1002/jbmr.540

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    A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

    Journal of Bone and Mineral Research

    Volume 29, Issue 6, June 2014, Pages: 1402–1411, Charles R Farber, Adi Reich, Aileen M Barnes, Patricia Becerra, Frank Rauch, Wayne A Cabral, Alison Bae, Aaron Quinlan, Francis H Glorieux, Thomas L Clemens and Joan C Marini

    Article first published online : 19 MAY 2014, DOI: 10.1002/jbmr.2173

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    Cystine dimethylester loading promotes oxidative stress and a reduction in ATP independent of lysosomal cystine accumulation in a human proximal tubular epithelial cell line

    Experimental Physiology

    Volume 98, Issue 10, October 2013, Pages: 1505–1517, Rodolfo Sumayao, Bernadette McEvoy, Natalia Martin-Martin, Tara McMorrow and Philip Newsholme

    Article first published online : 30 JUL 2013, DOI: 10.1113/expphysiol.2013.073809

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    Osteogenesis Imperfecta, an Ever-Expanding Conundrum

    Journal of Bone and Mineral Research

    Volume 28, Issue 7, July 2013, Pages: 1519–1522, Francis H Glorieux and Pierre Moffatt

    Article first published online : 18 JUN 2013, DOI: 10.1002/jbmr.1982

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    Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

    EMBO Molecular Medicine

    Volume 7, Issue 2, February 2015, Pages: 158–174, Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui and Sergio D Catz

    Article first published online : 13 JAN 2015, DOI: 10.15252/emmm.201404223

  10. Pigment Epithelium Derived Factor Suppresses Expression of Sost/Sclerostin by Osteocytes: Implication for Its Role in Bone Matrix Mineralization

    Journal of Cellular Physiology

    Volume 230, Issue 6, June 2015, Pages: 1243–1249, Feng Li, Na Song, Joyce Tombran-Tink and Christopher Niyibizi

    Article first published online : 25 FEB 2015, DOI: 10.1002/jcp.24859

  11. Analysis of skeletal dysplasias in the Utah population

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1046–1054, David A. Stevenson, John C. Carey, Janice L.B. Byrne, Sivithee Srisukhumbowornchai and Marcia L. Feldkamp

    Article first published online : 27 MAR 2012, DOI: 10.1002/ajmg.a.35327

  12. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

    Human Mutation

    Volume 24, Issue 2, August 2004, Pages: 147–154, Heini Hartikka, Kaija Kuurila, Jarmo Körkkö, Ilkka Kaitila, Reidar Grénman, Seppo Pynnönen, James C. Hyland and Leena Ala-Kokko

    Article first published online : 18 JUN 2004, DOI: 10.1002/humu.20071

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    Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: The current state of fetal computed tomography

    Congenital Anomalies

    Volume 52, Issue 4, December 2012, Pages: 203–206, Yoshika Akizawa, Gen Nishimura, Tomonobu Hasegawa, Masaki Takagi, Yayoi Kawamichi, Yoshio Matsuda, Hideo Matsui and Kayoko Saito

    Article first published online : 26 NOV 2012, DOI: 10.1111/j.1741-4520.2011.00346.x

  14. A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation

    Journal of Bone and Mineral Research

    Volume 30, Issue 3, March 2015, Pages: 489–498, Caressa D Lietman, Ronit Marom, Elda Munivez, Terry K Bertin, Ming-Ming Jiang, Yuqing Chen, Brian Dawson, Mary Ann Weis, David Eyre and Brendan Lee

    Article first published online : 16 FEB 2015, DOI: 10.1002/jbmr.2363

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    Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene

    Journal of Bone and Mineral Research

    Volume 28, Issue 11, November 2013, Pages: 2333–2337, Monica Grover, Philippe M Campeau, Caressa Dee Lietman, James T Lu, Richard A Gibbs, Alan E Schlesinger and Brendan H Lee

    Article first published online : 18 OCT 2013, DOI: 10.1002/jbmr.1983

  16. You have full text access to this OnlineOpen article
    Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1470–1481, F.S. Van Dijk and D.O. Sillence

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36545

    Corrected by:

    Erratum: Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment

    Vol. 167, Issue 5, 1178, Article first published online: 27 FEB 2015

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    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

    Journal of Bone and Mineral Research

    Volume 28, Issue 7, July 2013, Pages: 1523–1530, Jay R Shapiro, Caressa Lietman, Monica Grover, James T Lu, Sandesh CS Nagamani, Brian C Dawson, Dustin M Baldridge, Matthew N Bainbridge, Dan H Cohn, Maria Blazo, Timothy T Roberts, Feng-Shu Brennen, Yimei Wu, Richard A Gibbs, Pamela Melvin, Philippe M Campeau and Brendan H Lee

    Article first published online : 18 JUN 2013, DOI: 10.1002/jbmr.1891

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    Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen

    Journal of Bone and Mineral Research

    Volume 27, Issue 3, March 2012, Pages: 723–728, Giacomo Venturi, Alberto Gandini, Elena Monti, Luca Dalle Carbonare, Massimiliano Corradi, Monica Vincenzi, Maria Teresa Valenti, Maurizia Valli, Enrico Pelilli, Attilio Boner, Monica Mottes and Franco Antoniazzi

    Article first published online : 21 FEB 2012, DOI: 10.1002/jbmr.1480

  19. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

    Human Mutation

    Volume 20, Issue 6, December 2002, Pages: 439–446, Vasiliki Kalatzis, Lola Cohen-Solal, Béatrice Cordier, Yaacov Frishberg, Markus Kemper, E. Matti Nuutinen, Eric Legrand, Pierre Cochat and Corinne Antignac

    Article first published online : 19 NOV 2002, DOI: 10.1002/humu.10141

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    Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1972–1979, Ok-Hwa Kim, Dong-Kyu Jin, Keisuke Kosaki, Jung-Wook Kim, Sung Yoon Cho, Won Joon Yoo, In Ho Choi, Gen Nishimura, Shiro Ikegawa and Tae-Joon Cho

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36024