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There are 204309 results for: content related to: Renal anomalies in Alagille syndrome: A disease-defining feature

  1. Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1005–1013, Henry C. Lin, Phuc Le Hoang, Anne Hutchinson, Grace Chao, Jennifer Gerfen, Kathleen M. Loomes, Ian Krantz, Binita M. Kamath and Nancy B. Spinner

    Article first published online : 9 APR 2012, DOI: 10.1002/ajmg.a.35255

  2. You have full text access to this OnlineOpen article
    Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome

    FEBS Journal

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

    Article first published online : 8 MAY 2012, DOI: 10.1111/j.1742-4658.2012.08595.x

  3. You have full text access to this OnlineOpen article
    Outcomes of liver transplantation for patients with alagille syndrome: The studies of pediatric liver transplantation experience

    Liver Transplantation

    Volume 18, Issue 8, August 2012, Pages: 940–948, Binita M. Kamath, Wanrong Yin, Heather Miller, Ravinder Anand, Elizabeth B. Rand, Estella Alonso, John Bucuvalas and for Studies of Pediatric Liver Transplantation

    Article first published online : 24 JUL 2012, DOI: 10.1002/lt.23437

  4. 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

    Article first published online : 24 OCT 2011, DOI: 10.1111/j.1399-0004.2011.01710.x

  5. You have full text access to this OnlineOpen article
    PKCδ Is Required for Jagged-1 Induction of Human Mesenchymal Stem Cell Osteogenic Differentiation

    STEM CELLS

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

    Article first published online : 22 MAY 2013, DOI: 10.1002/stem.1353

  6. 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

    Article first published online : 11 FEB 2008, DOI: 10.1002/ajmg.a.32225

  7. 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

    Article first published online : 31 JUL 2011, DOI: 10.1111/j.1399-0004.2011.01749.x

  8. Alagille Syndrome

    Management of Genetic Syndromes

    Binita M. Kamath, Ian D. Krantz, Pages: 39–51, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch4

  9. Alagille Syndrome

    Standard Article

    Management of Genetic Syndromes

    Binita M. Kamath and Ian D. Krantz

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs004

  10. 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

    Article first published online : 30 MAR 2006, DOI: 10.1002/humu.20310

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

    Vol. 34, Issue 2, 408, Article first published online: 20 DEC 2012

  11. Notch signaling in cardiac valve development and disease

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 91, Issue 6, June 2011, Pages: 449–459, Donal MacGrogan, Luis Luna-Zurita and José Luis de la Pompa

    Article first published online : 11 MAY 2011, DOI: 10.1002/bdra.20815

  12. You have full text access to this OnlineOpen article
    Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the alagille syndrome hepatic phenotype

    Hepatology

    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

    Article first published online : 23 JUL 2008, DOI: 10.1002/hep.22538

  13. Pathogenetic Mechanisms in Alagille Syndrome

    Standard Article

    eLS

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

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

  14. You have full text access to this OnlineOpen article
    The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia

    Hepatology

    Volume 36, Issue 4, October 2002, Pages: 904–912, Takao Kohsaka, Zeng-rong Yuan, Shu-xia Guo, Manabu Tagawa, Akio Nakamura, Miwako Nakano, Hideo Kawasasaki, Yukihiro Inomata, Koichi Tanaka and Jun Miyauchi

    Article first published online : 30 DEC 2003, DOI: 10.1053/jhep.2002.35820

  15. You have free access to this content
    Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

    American Journal of Medical Genetics

    Volume 112, Issue 2, 1 October 2002, Pages: 190–193, Ayala Laufer-Cahana, Ian D. Krantz, Lynn D. Bason, Feng-Min Lu, David A. Piccoli and Nancy B. Spinner

    Article first published online : 18 SEP 2002, DOI: 10.1002/ajmg.10616

  16. Jagged1 mutations in Alagille syndrome

    Human Mutation

    Volume 17, Issue 1, 2001, Pages: 18–33, Nancy B. Spinner, Raymond P. Colliton, Cécile Crosnier, Ian D. Krantz, Michelle Hadchouel and Michèle Meunier-Rotival

    Article first published online : 22 DEC 2000, DOI: 10.1002/1098-1004(2001)17:1<18::AID-HUMU3>3.0.CO;2-T

  17. SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 371–378, Binita M. Kamath, Brian D. Thiel, Xiaowu Gai, Laura K. Conlin, Pedro S. Munoz, Joseph Glessner, Dinah Clark, Daniel M. Warthen, Tamim H. Shaikh, Ercan Mihci, David A. Piccoli, Struan F.A. Grant, Hakon Hakonarson, Ian D. Krantz and Nancy B. Spinner

    Article first published online : 4 DEC 2008, DOI: 10.1002/humu.20863

  18. You have full text access to this OnlineOpen article
    Bile duct proliferation in liver-specific Jag1 conditional knockout mice: Effects of gene dosage

    Hepatology

    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

    Article first published online : 5 JAN 2007, DOI: 10.1002/hep.21460

  19. The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome

    Clinical Genetics

    Volume 59, Issue 5, May 2001, Pages: 330–337, Zr Yuan, M Okaniwa, I Nagata, Y Tazawa, M Ito, H Kawarazaki, Y Inomata, S Okano, T Yoshida, N Kobayashi and T Kohsaka

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590506.x

  20. 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

    Article first published online : 3 AUG 2001, DOI: 10.1002/ajmg.1531