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There are 45835 results for: content related to: Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

  1. Disorders of sterol synthesis: Beyond Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 301–321, Gail E. Herman and Lisa Kratz

    Version of Record online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31340

  2. CHILD syndrome caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7-isomerase

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 328–335, Dorothy K. Grange, Lisa E. Kratz, Nancy E. Braverman and Richard I. Kelley

    Version of Record online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F

  3. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Daniel Hohl, Mary Williams, Pages: 121.1–121.70, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch121

  4. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi–Hünermann–Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature

    British Journal of Dermatology

    Volume 166, Issue 4, April 2012, Pages: 830–838, J. Cañueto, M. Girós, S. Ciria, G. Pi-Castán, M. Artigas, J. García-Dorado, V. García-Patos, A. Virós, T. Vendrell, A. Torrelo, Á. Hernández-Martín, E. Martín-Hernández, M.T. Garcia-Silva, M. Fernández-Burriel, J. Rosell, M. Tejedor, F. Martínez, J. Valero, J.L. García, E.M. Sánchez-Tapia, P. Unamuno and R. González-Sarmiento

    Version of Record online : 2 MAR 2012, DOI: 10.1111/j.1365-2133.2011.10756.x

  5. Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 339–346, Arne König, Rudolf Happle, Dorothea Bornholdt, Hartmut Engel and Karl-Heinz Grzeschik

    Version of Record online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5

  6. X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings

    Prenatal Diagnosis

    Volume 26, Issue 13, December 2006, Pages: 1235–1240, Shalini Umranikar, Phyllis Glanc, Sheila Unger, Sarah Keating, Katherine Fong, Christopher D Trevors, Diane Myles-Reid and David Chitayat

    Version of Record online : 6 NOV 2006, DOI: 10.1002/pd.1594

  7. Disorders of Keratinization

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Meral J. Arin, Daniel Hohl, Dennis R. Roop, Pages: 1025–1068, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch24

  8. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 3, 15 October 2003, Pages: 246–251, Marybeth Hummel, David Cunningham, Charles J. Mullett, Richard I. Kelley and Gail E. Herman

    Version of Record online : 3 JUN 2003, DOI: 10.1002/ajmg.a.20248

  9. Severe X-linked chondrodysplasia punctata in nine new female fetuses

    Prenatal Diagnosis

    Volume 35, Issue 7, July 2015, Pages: 675–684, Mathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, Marie Gonzales, Bernard Aral, Judith Saint-Onge, Nadège Gigot, Julie Desir, Caroline Daelemans, Frédérique Jossic, Sébastien Schmitt, Raphaele Mangione, Fanny Pelluard, Catherine Vincent-Delorme, Jean-Marc Labaune, Nicole Bigi, Dominique D'Olne, Anne-Lise Delezoide, Annick Toutain, Sophie Blesson, Valérie Cormier-Daire, Julien Thevenon, Salima El Chehadeh, Alice Masurel-Paulet, Nicole Joyé, Claude Vibert-Guigue, Luc Rigonnot, Thierry Rousseau, Pierre Vabres, Philippe Hervé, Antonin Lamazière, Jean-Baptiste Rivière, Laurence Faivre, Nicole Laurent and Christel Thauvin-Robinet

    Version of Record online : 30 MAR 2015, DOI: 10.1002/pd.4591

  10. Behold the CHILD

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 336–338, John M. Opitz

    Version of Record online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<336::AID-AJMG14>3.0.CO;2-H

  11. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 3, 30 January 2003, Pages: 255–260, David J. Aughton, Richard I. Kelley, Aida Metzenberg, Vincent Pureza and Richard M. Pauli

    Version of Record online : 19 SEP 2002, DOI: 10.1002/ajmg.a.10852

  12. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 3, 30 January 2003, Pages: 249–254, Jeff M. Milunsky, Thomas A. Maher and Aida B. Metzenberg

    Version of Record online : 19 NOV 2002, DOI: 10.1002/ajmg.a.10849

  13. Conradi–Hünermann–Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)

    British Journal of Dermatology

    Volume 166, Issue 6, June 2012, Pages: 1309–1313, A.W. Arnold, L. Bruckner-Tuderman, C. Has and R. Happle

    Version of Record online : 27 MAR 2012, DOI: 10.1111/j.1365-2133.2012.10808.x

  14. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1309–1314, Jennifer E. Posey, Lindsay C. Burrage, Philippe M. Campeau, James T. Lu, Tanya N. Eble, Lisa Kratz, Alan E. Schlesinger, Richard A. Gibbs, Brendan H. Lee and Sandesh C.S. Nagamani

    Version of Record online : 2 APR 2015, DOI: 10.1002/ajmg.a.36899

  15. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 300–305, Shiro Ikegawa, Hirofumi Ohashi, Tsutomu Ogata, Akira Honda, Masato Tsukahara, Toshihide Kubo, Mamori Kimizuka, Masanori Shimode, Tomonobu Hasegawa, Gen Nishimura and Yusuke Nakamura

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<300::AID-AJMG7>3.0.CO;2-3

  16. Pathogenesis-based therapies in ichthyoses

    Dermatologic Therapy

    Volume 26, Issue 1, January/February 2013, Pages: 46–54, Joey E. Lai-Cheong, Peter M. Elias and Amy S. Paller

    Version of Record online : 5 FEB 2013, DOI: 10.1111/j.1529-8019.2012.01528.x

  17. Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

    American Journal of Medical Genetics

    Volume 83, Issue 3, 19 March 1999, Pages: 213–219, Richard I. Kelley, William G. Wilcox, Moyra Smith, Lisa E. Kratz, Ann Moser and David S. Rimoin

    Version of Record online : 4 MAR 1999, DOI: 10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C

  18. Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 250–255, S. Kumada, M. Hayashi, J. Kenmochi, S. Kurosawa, N. Shimozawa, Lisa E. Kratz, Richard I. Kelley, K. Taki and M. Okaniwa

    Version of Record online : 11 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<250::AID-AJMG1087>3.0.CO;2-Y

  19. Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata

    Prenatal Diagnosis

    Volume 23, Issue 9, September 2003, Pages: 701–704, N. V. Whittock, L. Izatt, S. L. Simpson-Dent, K. Becker and S. H. Wakelin

    Version of Record online : 12 AUG 2003, DOI: 10.1002/pd.667

  20. Disorders of Cholesterol Biosynthesis, Genetics of

    Standard Article


    Shibani Kanungo and Robert D Steiner

    Published Online : 6 MAR 2017, DOI: 10.1002/9780470015902.a0020223.pub2