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There are 9080 results for: content related to: Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation

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  1. Validation of a quantitative PCR–high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1697–1707, Filomena Valentina Gentile, Monia Zuntini, Alessandro Parra, Luca Battistelli, Martina Pandolfi, Gerard Pals and Luca Sangiorgi

    Article first published online : 18 JUL 2012, DOI: 10.1002/humu.22146

  2. You have full text access to this OnlineOpen article
    Expression and characterization of Xenopus type I collagen alpha 1 (COL1A1) during embryonic development

    Development, Growth & Differentiation

    Volume 42, Issue 3, June 2000, Pages: 249–256, Toshiyasu Goto, Tomohisa Katada, Tsutomu Kinoshita and Hiroshi Y. Kubota

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1440-169x.2000.00505.x

  3. Characterization of the phenotype of high collagen-producing fibroblast clones in systemic sclerosis, using a new modified limiting-dilution method

    Clinical and Experimental Dermatology

    Volume 37, Issue 4, June 2012, Pages: 395–403, L. Zhu, D. Gao, J. Yang and M. Li

    Article first published online : 14 MAY 2012, DOI: 10.1111/j.1365-2230.2011.04254.x

  4. 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

  5. In vivo overexpression of tissue-nonspecific alkaline phosphatase increases skeletal mineralization and affects the phosphorylation status of osteopontin

    Journal of Bone and Mineral Research

    Accepted manuscript online: 20 FEB 2013, Sonoko Narisawa, Manisha C. Yadav and José Luis Millán

    DOI: 10.1002/jbmr.1901

  6. You have full text access to this OnlineOpen article
    Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice

    Journal of Bone and Mineral Research

    Volume 27, Issue 8, August 2012, Pages: 1735–1745, Dobrawa Napierala, Yao Sun, Izabela Maciejewska, Terry K Bertin, Brian Dawson, Rena D'Souza, Chunlin Qin and Brendan Lee

    Article first published online : 17 JUL 2012, DOI: 10.1002/jbmr.1636

  7. You have full text access to this OnlineOpen article
    CCAAT binding transcription factor binds and regulates human COL1A1 promoter activity in human dermal fibroblasts: Demonstration of increased binding in systemic sclerosis fibroblasts

    Arthritis & Rheumatism

    Volume 43, Issue 10, October 2000, Pages: 2219–2229, Biagio Saitta, Svetlana Gaidarova, Lucia Cicchillitti and Sergio A. Jimenez

    Article first published online : 26 MAR 2001, DOI: 10.1002/1529-0131(200010)43:10<2219::AID-ANR9>3.0.CO;2-N

  8. PTH-responsive osteoblast nuclear matrix architectural transcription factor binds to the rat type I collagen promoter

    Journal of Cellular Biochemistry

    Volume 69, Issue 3, 1 June 1998, Pages: 336–352, Marta Alvarez, Pasutha Thunyakitpisal, Paul Morrison, Jude Onyia, Janet Hock and Joseph P. Bidwell

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4644(19980601)69:3<336::AID-JCB11>3.0.CO;2-A

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    Transforming growth factor β1 induces the expression of α1(i) procollagen mRNA by a hydrogen peroxide-C/EBPβ-dependent mechanism in rat hepatic stellate cells

    Hepatology

    Volume 29, Issue 3, March 1999, Pages: 960–970, Elena R. García-Trevijano, María J. Iraburu, Luis Fontana, José A. Domínguez-Rosales, Anitra Auster, Amador Covarrubias-Pinedo and Marcos Rojkind

    Article first published online : 30 DEC 2003, DOI: 10.1002/hep.510290346

  10. Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas

    Genes, Chromosomes and Cancer

    Volume 23, Issue 2, October 1998, Pages: 187–193, Kevin P. O'Brien, Eyal Seroussi, Paola Dal Cin, Raf Sciot, Nils Mandahl, Jonathan A. Fletcher, Claude Turc-Carel and Jan P. Dumanski

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199810)23:2<187::AID-GCC13>3.0.CO;2-L

  11. 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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    Hydrogen peroxide: A link between acetaldehyde-elicited α1(i) collagen gene up-regulation and oxidative stress in mouse hepatic stellate cells

    Hepatology

    Volume 31, Issue 1, January 2000, Pages: 109–116, Patricia Greenwel, José-Alfredo Domínguez-Rosales, Gurjeet Mavi, A. M. Rivas-Estilla and Marcos Rojkind

    Article first published online : 30 DEC 2003, DOI: 10.1002/hep.510310118

  13. Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing

    Prenatal Diagnosis

    Volume 19, Issue 9, September 1999, Pages: 873–875, Lieve Nuytinck, Bekir Sitki Sayli, Wettinck Karen and Anne De Paepe

    Article first published online : 22 SEP 1999, DOI: 10.1002/(SICI)1097-0223(199909)19:9<873::AID-PD645>3.0.CO;2-0

  14. You have full text access to this OnlineOpen article
    Tumor necrosis factor α down-regulates expression of the α1(I) collagen gene in rat hepatic stellate cells through a p20C/EBPβ- and C/EBPδ-dependent mechanism

    Hepatology

    Volume 31, Issue 5, May 2000, Pages: 1086–1093, María J. Iraburu, José A. Domínguez-Rosales, Luis Fontana, Anitra Auster, Elena R. García-Trevijano, Amador Covarrubias-Pinedo, Ana María Rivas-Estilla, Patricia Greenwel and Marcos Rojkind

    Article first published online : 30 DEC 2003, DOI: 10.1053/he.2000.5981

  15. Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population

    Annals of Human Genetics

    Volume 75, Issue 5, September 2011, Pages: 598–604, Ayda Khalfallah, Isabelle Schrauwen, Malek Mnejja, Hassen HadjKacem, Leila Dhouib, Mohamed Ali Mosrati, Bochra Hakim, Imed Lahmar, Ilhem Charfeddine, Nabil Driss, Hammadi Ayadi, Abdelmonem Ghorbel, Guy Van Camp and Saber Masmoudi

    Article first published online : 21 JUL 2011, DOI: 10.1111/j.1469-1809.2011.00665.x

  16. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 19–22, Laura Rodríguez, Santiago Rodríguez, Juan Hermida, Carlos Frade, Esther Sande, Guillermo Visedo, Carlos Martín and Carlos Zapata

    Article first published online : 21 APR 2004, DOI: 10.1002/ajmg.a.30074

  17. Negative modulation of α1(I) procollagen gene expression in human skin fibroblasts: Transcriptional inhibition by interferon-γ

    Journal of Cellular Physiology

    Volume 179, Issue 1, April 1999, Pages: 97–108, Weihua Yuan, Tatyana Yufit, Liye Li, Yasuji Mori, Shu-Jen Chen and John Varga

    Article first published online : 26 FEB 1999, DOI: 10.1002/(SICI)1097-4652(199904)179:1<97::AID-JCP12>3.0.CO;2-E

  18. COL1A1 association and otosclerosis: A meta-analysis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1066–1070, Isabelle Schrauwen, Ayda Khalfallah, Megan Ealy, Erik Fransen, Charlotte Claes, Alex Huber, Laura Rodriguez Murillo, Saber Masmoudi, Richard J.H. Smith and Guy Van Camp

    Article first published online : 9 APR 2012, DOI: 10.1002/ajmg.a.35276

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    High-yield secretion of recombinant gelatins by Pichia pastoris

    Yeast

    Volume 15, Issue 11, August 1999, Pages: 1087–1096, Marc W. T. Werten, Tanja J. van den Bosch, Richèle D. Wind, Hans Mooibroek and Frits A. de Wolf

    Article first published online : 20 AUG 1999, DOI: 10.1002/(SICI)1097-0061(199908)15:11<1087::AID-YEA436>3.0.CO;2-F

  20. Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1

    Journal of Bone and Mineral Research

    Accepted manuscript online: 25 MAR 2013, I Mouna Ben Amor, Peter Roughley, Francis H. Glorieux and Frank Rauch

    DOI: 10.1002/jbmr.1942

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