Search Results

There are 4928 results for: content related to: Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features

  1. You have free access to this content
    Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome

    The FEBS Journal

    Volume 279, Issue 12, June 2012, Pages: 2096–2107, Minoru Tada, Satsuki Itoh, Akiko Ishii-Watabe, Takuo Suzuki and Nana Kawasaki

    Version of Record online : 8 MAY 2012, DOI: 10.1111/j.1742-4658.2012.08595.x

  2. Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 591–594, V Guida, F Chiappe, R Ferese, G Usala, G Maestrale, C Iannascoli, E Bellacchio, R Mingarelli, MC Digilio, B Marino, M Uda, A De Luca and B Dallapiccola

    Version of Record online : 24 OCT 2011, DOI: 10.1111/j.1399-0004.2011.01710.x

  3. You have free access to this content
    PKCδ Is Required for Jagged-1 Induction of Human Mesenchymal Stem Cell Osteogenic Differentiation


    Volume 31, Issue 6, June 2013, Pages: 1181–1192, Fengchang Zhu, Mariya T. Sweetwyne and Kurt D. Hankenson

    Version of Record online : 22 MAY 2013, DOI: 10.1002/stem.1353

  4. Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi)


    Volume 63, Issue 2, February 2016, Pages: 550–565, Shakeel M. Thakurdas, Mario F. Lopez, Shinako Kakuda, Rodrigo Fernandez-Valdivia, Neda Zarrin-Khameh, Robert S. Haltiwanger and Hamed Jafar-Nejad

    Version of Record online : 20 OCT 2015, DOI: 10.1002/hep.28024

  5. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 33–40, K Guegan, K Stals, M Day, P Turnpenny and S Ellard

    Version of Record online : 31 JUL 2011, DOI: 10.1111/j.1399-0004.2011.01749.x

  6. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

    Human Mutation

    Volume 27, Issue 5, May 2006, Pages: 436–443, DM Warthen, EC Moore, BM Kamath, JJD Morrissette, P Sanchez, DA Piccoli, ID Krantz and NB Spinner

    Version of Record online : 30 MAR 2006, DOI: 10.1002/humu.20310

    Corrected by:

    Errata: Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

    Vol. 34, Issue 2, 408, Version of Record online: 20 DEC 2012

  7. You have free access to this content
    Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome

    Human Mutation

    Volume 21, Issue 1, January 2003, Page: 100, Albrecht Röpke, Annegret Kujat, Mechthild Gräber, Joannis Giannakudis and Ingo Hansmann

    Version of Record online : 20 DEC 2002, DOI: 10.1002/humu.9102

  8. You have free access to this content
    Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the alagille syndrome hepatic phenotype


    Volume 48, Issue 6, December 2008, Pages: 1989–1997, Matthew J. Ryan, Christina Bales, Anthony Nelson, Dorian M. Gonzalez, Lara Underkoffler, Michelle Segalov, Jeanne Wilson-Rawls, Susan E. Cole, Jennifer L. Moran, Pierre Russo, Nancy B. Spinner, Kenro Kusumi and Kathleen M. Loomes

    Version of Record online : 23 JUL 2008, DOI: 10.1002/hep.22538

  9. You have free access to this content
    Requirements for Jag1-Rbpj mediated Notch signaling during early mouse lens development

    Developmental Dynamics

    Volume 241, Issue 3, March 2012, Pages: 493–504, Tien T. Le, Kevin W. Conley, Timothy J. Mead, Sheldon Rowan, Katherine E. Yutzey and Nadean L. Brown

    Version of Record online : 25 JAN 2012, DOI: 10.1002/dvdy.23739

  10. Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome

    Pediatrics International

    Volume 57, Issue 4, August 2015, Pages: 552–557, Jin Min Cho, Seak Hee Oh, Hyun Jin Kim, Joon Sung Kim, Kyung Mo Kim, Gu-Hwan Kim, Eunsil Yu, Beom Hee Lee and Han-Wook Yoo

    Version of Record online : 6 MAY 2015, DOI: 10.1111/ped.12602

  11. You have free access to this content
    DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients

    Human Mutation

    Volume 20, Issue 6, December 2002, Page: 481, Mandy L. Heritage, John C. MacMillan and Gregory J. Anderson

    Version of Record online : 19 NOV 2002, DOI: 10.1002/humu.9095

  12. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

    Human Mutation

    Volume 16, Issue 5, November 2000, Pages: 408–416, Mandy L. Heritage, John C. MacMillan, Raymond P. Colliton, Anna Genin, Nancy B. Spinner and Gregory J. Anderson

    Version of Record online : 27 OCT 2000, DOI: 10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9

  13. You have free access to this content
    Jagged1 is the major regulator of notch-dependent cell fate in proximal airways

    Developmental Dynamics

    Volume 242, Issue 6, June 2013, Pages: 678–686, Shubing Zhang, Amanda J. Loch, Freddy Radtke, Sean E. Egan and Keli Xu

    Version of Record online : 29 APR 2013, DOI: 10.1002/dvdy.23965

  14. You have free access to this content
    Bile duct proliferation in liver-specific Jag1 conditional knockout mice: Effects of gene dosage


    Volume 45, Issue 2, February 2007, Pages: 323–330, Kathleen M. Loomes, Pierre Russo, Matthew Ryan, Anthony Nelson, Lara Underkoffler, Curtis Glover, Hong Fu, Thomas Gridley, Klaus H. Kaestner and Rebecca J. Oakey

    Version of Record online : 5 JAN 2007, DOI: 10.1002/hep.21460

  15. A faithful JAGGED1 haploinsufficiency mouse model of arteriohepatic dysplasia (Alagille syndrome) after all


    Volume 63, Issue 2, February 2016, Pages: 365–367, Stacey S. Huppert

    Version of Record online : 18 DEC 2015, DOI: 10.1002/hep.28338

  16. Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome

    American Journal of Medical Genetics

    Volume 112, Issue 1, 15 September 2002, Pages: 75–78, Annick Raas-Rothschild, Eyal Shteyer, Israela Lerer, Amiram Nir, Esther Granot and Azaria J.J.T. Rein

    Version of Record online : 8 JUL 2002, DOI: 10.1002/ajmg.10652

  17. Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

    American Journal of Medical Genetics

    Volume 103, Issue 2, 1 October 2001, Pages: 166–171, Paweł Stankiewicz, Jolanta Rujner, Christiane Löffler, Antje Krüger, Manjunath Nimmakayalu, Bożena Piłacik, Małgorzata Krajewska-Walasek, Anna Gutkowska, Ingo Hansmann and Ioannis Giannakudis

    Version of Record online : 3 AUG 2001, DOI: 10.1002/ajmg.1531

  18. Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 937–939, Inaam El-Rassy, Jad Bou-Abdallah, Sara Al-Ghadban, Fadi Bitar and Georges Nemer

    Version of Record online : 11 FEB 2008, DOI: 10.1002/ajmg.a.32225

  19. You have free access to this content
    Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

    Human Mutation

    Volume 25, Issue 3, March 2005, Page: 321, Dorota Jurkiewicz, Ewa Popowska, Christiane Gläser, Ingo Hansmann and Małgorzata Krajewska-Walasek

    Version of Record online : 14 FEB 2005, DOI: 10.1002/humu.9313

  20. Pathogenetic Mechanisms in Alagille Syndrome

    Standard Article


    Shaunta Guha, Dermot Walls, Eileen M Redmond and Paul A Cahill

    Published Online : 18 OCT 2010, DOI: 10.1002/9780470015902.a0021440