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There are 13289 results for: content related to: A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)

  1. Microsatellite–centromere mapping in bighead carp (Aristichthys nobilis) using gynogenetic diploid families

    Aquaculture Research

    Volume 44, Issue 9, August 2013, Pages: 1470–1488, Lusha Liu, Jingou Tong, Wenjie Guo and Xiaomu Yu

    Version of Record online : 22 APR 2012, DOI: 10.1111/j.1365-2109.2012.03155.x

  2. You have full text access to this OnlineOpen article
    Who's behind that mask and cape? The Asian leopard cat's Agouti (ASIP) allele likely affects coat colour phenotype in the Bengal cat breed

    Animal Genetics

    Volume 45, Issue 6, December 2014, Pages: 893–897, L. C. Gershony, M. C. T. Penedo, B. W. Davis, W. J. Murphy, C. R. Helps and L. A. Lyons

    Version of Record online : 20 AUG 2014, DOI: 10.1111/age.12206

  3. Effects of polymorphisms of the SLCO2B1 transporter gene on the pharmacokinetics of montelukast in humans

    The Journal of Clinical Pharmacology

    Volume 53, Issue 11, November 2013, Pages: 1186–1193, Kyoung-Ah Kim, Hye-Mi Lee, Hyun-Jin Joo, In-Bae Park and Ji-Young Park

    Version of Record online : 23 AUG 2013, DOI: 10.1002/jcph.144

  4. Analysis of complement receptor Type 1 expression on red blood cells in negative phenotypes of the Knops blood group system, according to CR1 gene allotype polymorphisms

    Transfusion

    Volume 50, Issue 7, July 2010, Pages: 1435–1443, Bach-Nga Pham, Aymric Kisserli, Béatrice Donvito, Valérie Duret, Brigitte Reveil, Thierry Tabary, Pierre-Yves Le Pennec, Thierry Peyrard, Philippe Rouger and Jacques H.M. Cohen

    Version of Record online : 19 FEB 2010, DOI: 10.1111/j.1537-2995.2010.02599.x

  5. Serologic analysis of three cases of neonatal alloimmune thrombocytopenia associated with HLA antibodies

    Transfusion

    Volume 43, Issue 7, July 2003, Pages: 908–917, Satoshi Saito, Masao Ota, Yumi Komatsu, Satoshi Ota, Shigeru Aoki, Kenichi Koike, Izumi Tokunaga, Takahisa Tsuno, Goro Tsuruta, Tetsuo Kubo and Hirofumi Fukushima

    Version of Record online : 20 JUN 2003, DOI: 10.1046/j.1537-2995.2003.00429.x

  6. Report on the Tenth International Platelet Genotyping and Serology Workshop on behalf of the International Society of Blood Transfusion

    Vox Sanguinis

    Volume 80, Issue 1, January 2001, Pages: 72–78, S. Panzer

    Version of Record online : 28 FEB 2002, DOI: 10.1046/j.1423-0410.2001.00002.x

  7. Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

    Clinical Genetics

    Volume 70, Issue 3, September 2006, Pages: 214–227, G Millat, P Chevalier, L Restier-Miron, A Da Costa, P Bouvagnet, B Kugener, L Fayol, C Gonzàlez Armengod, B Oddou, V Chanavat, E Froidefond, R Perraudin, R Rousson and C Rodriguez-Lafrasse

    Version of Record online : 10 AUG 2006, DOI: 10.1111/j.1399-0004.2006.00671.x

  8. Mutation screening of the CDKN2A promoter in melanoma families

    Genes, Chromosomes and Cancer

    Volume 28, Issue 1, May 2000, Pages: 45–57, Mark Harland, Elizabeth A. Holland, Paola Ghiorzo, Michela Mantelli, Giovanna Bianchi-Scarrà, Alisa M. Goldstein, Margaret A. Tucker, Bruce A.J. Ponder, Graham J. Mann, D. Timothy Bishop and Julia Newton Bishop

    Version of Record online : 28 MAR 2000, DOI: 10.1002/(SICI)1098-2264(200005)28:1<45::AID-GCC6>3.0.CO;2-F

  9. Variation in genes involved in the immune response and prostate cancer risk in the placebo arm of the Prostate Cancer Prevention Trial

    The Prostate

    Volume 75, Issue 13, September 15, 2015, Pages: 1403–1418, Danyelle A. Winchester, Cathee Till, Phyllis J. Goodman, Catherine M. Tangen, Regina M. Santella, Teresa L. Johnson-Pais, Robin J. Leach, Jianfeng Xu, S. Lilly Zheng, Ian M. Thompson, M. Scott Lucia, Scott M. Lippmann, Howard L. Parnes, Paul J. Dluzniewski, William B. Isaacs, Angelo M. De Marzo, Charles G. Drake and Elizabeth A. Platz

    Version of Record online : 5 JUN 2015, DOI: 10.1002/pros.23021

  10. A man-made disease: Fetal neonatal alloimmune thrombocytopenia due to incompatibility between oocyte donor and gestational mother

    Pediatric Blood & Cancer

    Assaf Arie Barg, Aviya Dvir Ifrah, Tzipi Strauss, Michal J. Simchen, Raoul Orvieto, Nurit Rosenberg and Gili Kenet

    Version of Record online : 18 JAN 2017, DOI: 10.1002/pbc.26447

  11. 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

    Version of Record online : 9 DEC 2008, DOI: 10.1002/humu.20868

  12. Optimizing Surveillance for South American Origin Influenza A Viruses Along the United States Gulf Coast Through Genomic Characterization of Isolates from Blue-winged Teal (Anas discors)

    Transboundary and Emerging Diseases

    Volume 63, Issue 2, April 2016, Pages: 194–202, A. M. Ramey, P. Walther, P. Link, R. L. Poulson, B. R. Wilcox, G. Newsome, E. Spackman, J. D. Brown and D. E. Stallknecht

    Version of Record online : 23 JUL 2014, DOI: 10.1111/tbed.12244

  13. Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domestic rabbit (Oryctolagus cuniculus)

    Animal Genetics

    Volume 37, Issue 5, October 2006, Pages: 489–493, L. Fontanesi, M. Tazzoli, F. Beretti and V. Russo

    Version of Record online : 21 JUL 2006, DOI: 10.1111/j.1365-2052.2006.01494.x

  14. You have free access to this content
    Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the αIIb gene to be strongly linked to the HPA-1b polymorphism in β3

    Journal of Thrombosis and Haemostasis

    Volume 1, Issue 3, March 2003, Pages: 573–575, B. Jacquelin, E. Tuleja, T. J. Kunicki, P. Nurden and A. T. Nurden

    Version of Record online : 26 FEB 2003, DOI: 10.1046/j.1538-7836.2003.00107.x

  15. 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

    Version of Record online : 1 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01256.x

  16. New karyotypic data for Asian rodents (Rodentia, Muridae) with the first report of B-chromosomes in the genus Mus

    Journal of Zoology

    Volume 279, Issue 1, September 2009, Pages: 44–56, D. Badenhorst, V. Herbreteau, Y. Chaval, M. Pagès, T. J. Robinson, W. Rerkamnuaychoke, S. Morand, J.-P. Hugot and G. Dobigny

    Version of Record online : 21 MAY 2009, DOI: 10.1111/j.1469-7998.2009.00588.x

  17. You have free access to this content
    Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation

    Journal of Thrombosis and Haemostasis

    Volume 2, Issue 1, January 2004, Pages: 71–76, F. Quélin, M. Trossaërt, M. Sigaud, P. D. E. Mazancourt and E. Fressinaud

    Version of Record online : 9 JAN 2004, DOI: 10.1111/j.1538-7836.2004.00554.x

  18. You have free access to this content
    Homozygosity at the MTL locus in clinical strains of Candida albicans: karyotypic rearrangements and tetraploid formation

    Molecular Microbiology

    Volume 52, Issue 5, June 2004, Pages: 1451–1462, Melanie Legrand, Paul Lephart, Anja Forche, Frank-Michael C. Mueller, T. Walsh, P.T. Magee and Beatrice B. Magee

    Version of Record online : 22 APR 2004, DOI: 10.1111/j.1365-2958.2004.04068.x

  19. The biallelic expression pattern of X-linked genes in Klinefelter syndrome by pyrosequencing

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 5, 1 March 2006, Pages: 527–532, In Hyuk Chung, Han Chul Lee, Jung Hoon Park, Jung Jae Ko, Sook Hwan Lee, Tae-Gyu Chung, Hyun-Joo Kim, Kwang-Yul Cha and Suman Lee

    Version of Record online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31102

  20. Low SPINK5 expression in chronic rhinosinusitis

    The Laryngoscope

    Volume 122, Issue 6, June 2012, Pages: 1198–1204, Kai Fruth, Gyula Goebel, Dimitrios Koutsimpelas, Jan Gosepath, Irene Schmidtmann, Wolf J. Mann and Juergen Brieger

    Version of Record online : 8 MAY 2012, DOI: 10.1002/lary.23300