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There are 51156 results for: content related to: Unusual Clinical Manifestations in a Case of A lagille Syndrome

  1. Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome

    Acta Paediatrica

    Accepted manuscript online: 11 JUL 2017, Kei Ohashi, Takao Togawa, Tokio Sugiura, Koichi Ito, Takeshi Endo, Kohei Aoyama, Yutaka Negishi, Toyoichiro Kudo, Reiko Ito and Shinji Saitoh

    DOI: 10.1111/apa.13981

  2. 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

  3. 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

  4. 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

  5. Alagille syndrome: Prenatal sonographic findings

    Journal of Clinical Ultrasound

    Volume 35, Issue 3, March/April 2007, Pages: 156–158, Alessandro Ghidini, Maddalena Incerti and Marianna Andreani

    Version of Record online : 12 FEB 2007, DOI: 10.1002/jcu.20292

  6. Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization

    American Journal of Medical Genetics

    Volume 70, Issue 1, 2 May 1997, Pages: 80–86, Ian D. Krantz, Elizabeth B. Rand, Anna Genin, Piper Hunt, Marilyn Jones, Anthonise A. Louis, John M. Graham Jr., Sucheta Bhatt, David A. Piccoli and Nancy B. Spinner

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970502)70:1<80::AID-AJMG15>3.0.CO;2-T

  7. Clinical Characteristics and Outcome of Liver Transplantation for Alagille Syndrome in Children

    Journal of Digestive Diseases

    Accepted manuscript online: 23 JUN 2017, Tao Zhou, Jianjun Zhang, Yi Luo, Yuan Liu, Sy Zhuang, Feng Xue, Longzhi Han and Qiang Xia

    DOI: 10.1111/1751-2980.12500

  8. 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

  9. Thyroid cancer in a case with the Alagille syndrome

    Clinical Genetics

    Volume 45, Issue 1, January 1994, Pages: 21–24, Zenichiro Kato, Junichi Asans, Tomomi Kato, Seiji Yamaguchi, Naomi Kondo and Tadao Orii

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1994.tb03984.x

  10. The Jaundiced Baby

    Diseases of the Liver and Biliary System in Children, Second Edition

    Deirdre A. Kelly, Pages: 35–73, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987049.ch4

  11. Linkage analysis and identification of deletion in Alagille syndrome gene

    Pediatrics International

    Volume 39, Issue 6, December 1997, Pages: 647–652, ZENG-RONG YUAN, TAKAO KOHSAKA and NOBORU KOBAYASHI

    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1997.tb03661.x

  12. 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

  13. Alagille syndrome: Chipping away at the tip of the iceberg

    American Journal of Medical Genetics

    Volume 112, Issue 2, 1 October 2002, Pages: 160–162, Ian D. Krantz

    Version of Record online : 13 AUG 2002, DOI: 10.1002/ajmg.10609

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    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

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    Facial features in Alagille syndrome: Specific or cholestasis facies?

    American Journal of Medical Genetics

    Volume 112, Issue 2, 1 October 2002, Pages: 163–170, Binita M. Kamath, Kathleen M. Loomes, Rebecca J. Oakey, Karan E.M. Emerick, Tracy Conversano, Nancy B. Spinner, David A. Piccoli and Ian D. Krantz

    Version of Record online : 8 JUL 2002, DOI: 10.1002/ajmg.10579

  16. 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

  17. 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

  18. 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

    Version of Record online : 9 APR 2012, DOI: 10.1002/ajmg.a.35255

  19. Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)

    American Journal of Medical Genetics

    Volume 63, Issue 4, 28 June 1996, Pages: 537–541, Pi-Hsien Li, San-Ging Shu, Ching-Hwa Yang, Feng-Chu Lo, Mei-Chin Wen and Ching-Shiang Chi

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960628)63:4<537::AID-AJMG5>3.0.CO;2-L

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    Craniosynostosis in Alagille syndrome

    American Journal of Medical Genetics

    Volume 112, Issue 2, 1 October 2002, Pages: 176–180, Binita M. Kamath, Catherine Stolle, Lynn Bason, Raymond P. Colliton, David A. Piccoli, Nancy B. Spinner and Ian D. Krantz

    Version of Record online : 8 JUL 2002, DOI: 10.1002/ajmg.10608