Suchergebnisse - William G. Cole

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  1. 1
    Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia

    Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution... von Danny Chan, William G. Cole

    Veröffentlicht 1991
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  2. 2
    Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

    Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia von Danny Chan, T.K.F. Taylor, William G. Cole

    Veröffentlicht 1993
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  3. 3
    Characterization of Point Mutations in the Collagen COL1A1 and COL1A2 Genes Causing Lethal Perinatal Osteogenesis Imperfecta

    Characterization of Point Mutations in the Collagen COL1A1 and COL1A2 Genes Causing Lethal Perinatal Osteogenesis Imperfecta von Shireen R. Lamandé, H Dahl, William G. Cole, John F. Bateman

    Veröffentlicht 1989
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  4. 4
    Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation <i>in vitro</i>

    Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation <i>in vitro</i> von Danny Chan, Shireen R. Lamandé, William G. Cole, John F. Bateman

    Veröffentlicht 1990
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  5. 5
    Collagen composition of normal and myxomatous human mitral heart valves

    Collagen composition of normal and myxomatous human mitral heart valves von William G. Cole, Danny Chan, Andrew J. Hickey, D. E. L. Wilcken

    Veröffentlicht 1984
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  6. 6
    Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

    Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. von William G. Cole, Danny Chan, G W Chambers, Ian D. Walker, John F. Bateman

    Veröffentlicht 1986
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  7. 7
    Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets

    Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets von Outi Mäkitie, Andrea Doria, Sang Whay Kooh, William G. Cole, Alan Daneman, Etienne Sochett

    Veröffentlicht 2003
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  8. 8
    A Frameshift Mutation Results in a Truncated Nonfunctional Carboxyl-terminal Proα1(I) Propeptide of Type I Collagen in Osteogenesis Imperfecta

    A Frameshift Mutation Results in a Truncated Nonfunctional Carboxyl-terminal Proα1(I) Propeptide of Type I Collagen in Osteogenesis Imperfecta von John F. Bateman, Shireen R. Lamandé, H H Dahl, Danny Chan, T Mascara, William G. Cole

    Veröffentlicht 1989
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  9. 9
    Autoantibodies to type II collagen: occurrence in rheumatoid arthritis, other arthritides, autoimmune connective tissue diseases, and chronic inflammatory syndromes.

    Autoantibodies to type II collagen: occurrence in rheumatoid arthritis, other arthritides, autoimmune connective tissue diseases, and chronic inflammatory syndromes. von E K Choi, Paul A. Gatenby, Neil McGill, John F. Bateman, William G. Cole, J. York

    Veröffentlicht 1988
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  10. 10
    Heterozygous Mutations in the <i>LDL Receptor-Related Protein 5</i> (<i>LRP5</i>) Gene Are Associated With Primary Osteoporosis in Children

    Heterozygous Mutations in the <i>LDL Receptor-Related Protein 5</i> (<i>LRP5</i>) Gene Are Associated With Primary Osteoporosis in Children von Heini Hartikka, Outi Mäkitie, Minna Männikkö, Andréa S. Doria, Alan Daneman, William G. Cole, Leena Ala‐Kokko, Etienne Sochett

    Veröffentlicht 2005
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  11. 11
    COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

    COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS von Richard Wenstrup, Jane B. Florer, Marcia Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole

    Veröffentlicht 2000
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  12. 12
    A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

    A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. von Dominique Weil, Marina D’Alessio, Francesco Ramirez, Wouter de Wet, William G. Cole, Danny Chan, John F. Bateman

    Veröffentlicht 1989
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  13. 13
    Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia

    Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia von Ernestina Schipani, Craig B. Langman, A. M. Parfitt, Geoffrey S. Jensen, Satoru Kikuchi, Sang Whay Kooh, William G. Cole, Harald Jüppner

    Veröffentlicht 1996
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  14. 14
    Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel <i>DMP1</i> mutation

    Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel <i>DMP1</i> mutation von Outi Mäkitie, Renata C. Pereira, Ilkka Kaitila, Serap Turan, Murat Bastepe, Tero Laine, Heikki Kröger, William G. Cole, Harald Jüppner

    Veröffentlicht 2010
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  15. 15
    Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal Propeptide which Impair Subunit Assembly

    Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal P... von Shireen R. Lamandé, Steven Chessler, Suzanne B. Golub, Peter H. Byers, Danny Chan, William G. Cole, David Sillence, John F. Bateman

    Veröffentlicht 1995
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  16. 16
    Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

    Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) von Christine Lainé, Boi-Dinh Chung, Miki Susic, Trine Prescott, Oliver Semler, Torunn Fiskerstrand, P D’Eufemia, Marco Castori, Minna Pekkinen, Etienne Sochett, William G. Cole, Christian Netzer, Outi Mäkitie

    Veröffentlicht 2011
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  17. 17
    New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

    New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17 von Prasuna Paluru, Shawn M. Ronan, Elise Héon, Marcella Devoto, Scott C. Wildenberg, Genaro S. Scavello, Ann M. Holleschau, Outi Ma ̈kitie, William G. Cole, Richard A. King, Terri L. Young

    Veröffentlicht 2003
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  18. 18
    Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

    Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity von Johanna Korvala, Harald Jüppner, Outi Mäkitie, Etienne Sochett, Dirk Schnabel, Stefano Mora, Cynthia F. Bartels, Matthew L. Warman, D J Deraska, William G. Cole, Heini Hartikka, Leena Ala‐Kokko, Minna Männikkö

    Veröffentlicht 2012
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  19. 19
    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders von Robert Gensure, Outi Mäkitie, Catherine Barclay, Catherine Chan, Steven R. DePalma, Murat Bastepe, H. Abuzahra, Richard Couper, Stefan Mundlos, David Sillence, Leena Ala Kokko, Jonathan G. Seidman, William G. Cole, Harald Jüppner

    Veröffentlicht 2005
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  20. 20
    Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

    Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia von Stefan Mundlos, F Otto, C Mundlos, John B. Mulliken, A.S Aylsworth, Susan G. Albright, Dick Lindhout, William G. Cole, Wolfram Henn, Joan H.M. Knoll, Michael J. Owen, Roland Mertelsmann, Bernhard Zabel, Bjørn R. Olsen

    Veröffentlicht 1997
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