Resultados de búsqueda - Ulrike Schwarze

Limitar resultados
  1. 1
    Event-Related Nociceptive Arousal Enhances Memory Consolidation for Neutral Scenes

    Event-Related Nociceptive Arousal Enhances Memory Consolidation for Neutral Scenes por Ulrike Schwarze, Ulrike Bingel, Tobias Sommer

    Publicado 2012
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  2. 2
    Mutations in the COL3A1 Gene Result in the Ehlers–Danlos Syndrome Type IV and Alterations in the Size and Distribution of the Major Collagen Fibrils of the Dermis

    Mutations in the COL3A1 Gene Result in the Ehlers–Danlos Syndrome Type IV and Alterations in the Size and Distribution of the Major Collagen Fibrils of the Dermis por Lynne T. Smith, Ulrike Schwarze, Jayne A. Goldstein, Peter H. Byers

    Publicado 1997
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  3. 3
    Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

    Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type por Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga, Peter H. Byers

    Publicado 2000
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  4. 4
    Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)

    Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II) por Ulrike Schwarze, Mary Atkinson, Guy G. Hoffman, Daniel S. Greenspan, Peter H. Byers

    Publicado 2000
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  5. 5
    A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

    A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes por Kelly L. Jones, Ulrike Schwarze, Margaret P Adam, Peter H. Byers, Heather C. Mefford

    Publicado 2015
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  6. 6
    Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

    Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV) por Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F. Leistritz, Peter H. Byers

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  7. 7
    Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

    Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance por Shawna M. Pyott, Melanie Pepin, Ulrike Schwarze, Kathleen Yang, Gretchen Smith, Peter H. Byers

    Publicado 2011
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  8. 8
    The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

    The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories por Melanie Pepin, Mitzi L. Murray, S.S. Bailey, Dru Leistritz-Kessler, Ulrike Schwarze, Peter H. Byers

    Publicado 2015
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  9. 9
    Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

    Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders por Anton V. Persikov, Rian J. Pillitteri, Priyal Amin, Ulrike Schwarze, Peter H. Byers, Barbara Brodsky

    Publicado 2004
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  10. 10
    Normal Collagen and Bone Production by Gene-targeted Human Osteogenesis Imperfecta iPSCs

    Normal Collagen and Bone Production by Gene-targeted Human Osteogenesis Imperfecta iPSCs por David R. Deyle, Iram Khan, Gaoying Ren, Pei-Rong Wang, Jordan Kho, Ulrike Schwarze, David W. Russell

    Publicado 2011
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  11. 11
    Spontaneous Direct Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV: Two Case Reports and a Review of the Literature

    Spontaneous Direct Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV: Two Case Reports and a Review of the Literature por Hideki Chuman, Jonathan D. Trobe, Elizabeth M. Petty, Ulrike Schwarze, Melanie Pepin, Peter H. Byers, John P. Deveikis

    Publicado 2002
    Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  12. 12
    Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

    Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehle... por Kazuhiko Takahara, Ulrike Schwarze, Yasutada Imamura, Guy G. Hoffman, Helga V. Toriello, Lynne T. Smith, Peter H. Byers, Daniel S. Greenspan

    Publicado 2002
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  13. 13
    Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

    Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway por Ulrike Schwarze, Ryu-Ichiro Hata, Victor A. McKusick, Hiroshi Shinkai, H. Eugene Hoyme, Reed E. Pyeritz, Peter H. Byers

    Publicado 2004
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  14. 14
    Gene Targeting of Mutant COL1A2 Alleles in Mesenchymal Stem Cells From Individuals With Osteogenesis Imperfecta

    Gene Targeting of Mutant COL1A2 Alleles in Mesenchymal Stem Cells From Individuals With Osteogenesis Imperfecta por Joel R. Chamberlain, David R. Deyle, Ulrike Schwarze, Peirong Wang, Roli K. Hirata, Yi Li, Peter H. Byers, David W. Russell

    Publicado 2007
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  15. 15
    Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

    Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships por Dale L. Bodian, Ting‐Fung Chan, Annie Poon, Ulrike Schwarze, Kathleen Yang, Peter H. Byers, Pui‐Yan Kwok, Teri E. Klein

    Publicado 2008
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  16. 16
    Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV

    Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV por Ulrike Schwarze, Wouter I. Schievink, Elizabeth M. Petty, Michael R. Jaff, Dusica Babovic‐Vuksanovic, Kenneth J. Cherry, Melanie Pepin, Peter H. Byers

    Publicado 2001
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  17. 17
    Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

    Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta por Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman Alswaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie Pepin, Mary Ann Weis, David R. Eyre, Peter H. Byers

    Publicado 2010
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  18. 18
    Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

    Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen por Peter H. Byers, Madeleine Duvic, Mary Atkinson, Meinhard Robinow, Lynne T. Smith, Stephen M. Krane, Marie T. Greally, Mark D. Ludman, Reuben Matalon, Susan P. Pauker, Deborah S. Quanbeck, Ulrike Schwarze

    Publicado 1997
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  19. 19
    Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

    Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene por Alain Colige, Aleksander L. Sieroń, Shi-Wu Li, Ulrike Schwarze, Elizabeth M. Petty, Wladimir Wertelecki, William R. Wilcox, Deborah Krakow, Daniel H. Cohn, William Reardon, Peter H. Byers, Charles M. Lapière, Darwin J. Prockop, Betty Nusgens

    Publicado 1999
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  20. 20
    Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

    Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes por Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen, Melanie Pepin, Dru F. Leistritz, Richard Dineen, Catharine Harris, Barbara K. Burton, Brad Angle, Katherine Kim, Michael D. Sussman, MaryAnn Weis, David R. Eyre, David W. Russell, Kevin McCarthy, Robert D. Steiner, Peter H. Byers

    Publicado 2011
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:

Herramientas de búsqueda: