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There are 4098110 results for: content related to: Erythropoietic protoporphyria-like scars and xanthomas in a child with Alagille syndrome

  1. 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

  2. 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

  3. 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

  4. 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

    Article first published online : 13 AUG 2002, DOI: 10.1002/ajmg.10609

  5. 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

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

  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

    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

  7. 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

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1994.tb03984.x

  8. 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

  9. 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

    Article first published online : 12 FEB 2007, DOI: 10.1002/jcu.20292

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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

    Article first published 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

    Article first published online : 8 JUL 2002, DOI: 10.1002/ajmg.10579

  12. 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

    Article first published online : 6 MAY 2015, DOI: 10.1111/ped.12602

  13. Papular umbilicated granuloma annulare in association with Alagille syndrome

    International Journal of Dermatology

    Volume 36, Issue 3, March 1997, Pages: 207–209, Maral A. Kibarian, Susan B. Mallory, James Keating and Paul Shitabata

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1365-4362.1997.tb04183.x

  14. 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

    Article first published 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

    Article first published online : 8 JUL 2002, DOI: 10.1002/ajmg.10608

  16. Two- and three-dimensional prenatal sonographic diagnosis of alagille syndrome

    Journal of Clinical Ultrasound

    Volume 42, Issue 5, June 2014, Pages: 293–296, Joseph R. Wax, Renée Chard, Michael G. Pinette and Angelina Cartin

    Article first published online : 13 JAN 2014, DOI: 10.1002/jcu.22125

  17. 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

  18. Steatocystoma multiplex and leuconychia in a child with Alagille syndrome

    British Journal of Dermatology

    Volume 138, Issue 1, January 1998, Pages: 150–154, Cambiaghi, Riva, Ramaccioni, Gridelli and Gelmetti

    Article first published online : 4 JAN 2002, DOI: 10.1046/j.1365-2133.1998.02043.x

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    Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

    American Journal of Medical Genetics

    Volume 112, Issue 2, 1 October 2002, Pages: 194–197, Binita M. Kamath, Ian D. Krantz, Nancy B. Spinner, James E. Heubi and David A. Piccoli

    Article first published online : 8 JUL 2002, DOI: 10.1002/ajmg.10610

  20. You have free access to this content
    Partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome

    Hepatology

    Volume 35, Issue 6, June 2002, Pages: 1501–1506, Karan M. Emerick and Peter F. Whitington

    Article first published online : 30 DEC 2003, DOI: 10.1053/jhep.2002.33332