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There are 11671 results for: content related to: Adrenal function in Smith–Lemli–Opitz syndrome

  1. The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

    Clinical Genetics

    Volume 59, Issue 6, June 2001, Pages: 375–386, MJM Nowaczyk and JS Waye

    Version of Record online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590601.x

  2. Recent insights into the Smith–Lemli–Opitz syndrome

    Clinical Genetics

    Volume 68, Issue 5, November 2005, Pages: 383–391, H Yu and SB Patel

    Version of Record online : 13 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00515.x

  3. Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology

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

    Volume 160C, Issue 4, 15 November 2012, Pages: 250–262, Małgorzata J.M. Nowaczyk and Mira B. Irons

    Version of Record online : 11 OCT 2012, DOI: 10.1002/ajmg.c.31343

  4. Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 56–60, Marwan Shinawi, Sara Szabo, Edwina Popek, Christopher A. Wassif, Forbes D. Porter and Lorraine Potocki

    Version of Record online : 11 AUG 2005, DOI: 10.1002/ajmg.a.30898

  5. Photosensitive Smith–Lemli–Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families

    British Journal of Dermatology

    Volume 153, Issue 4, October 2005, Pages: 774–779, A.V. Anstey, R.M. Azurdia, L.E. Rhodes, A.D. Pearse and P.E. Bowden

    Version of Record online : 11 AUG 2005, DOI: 10.1111/j.1365-2133.2005.06761.x

  6. Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2407–2419, Ryan W.Y. Lee, Sandra K. Conley, Andrea Gropman, Forbes D. Porter and Eva H. Baker

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36096

  7. Prenatal Presentation and Diagnostic Evaluation of Suspected Smith–Lemli–Opitz (RSH) Syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1008–1011, Dorothea Haas, Gisela Haege, Georg F. Hoffmann and Peter Burgard

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35837

  8. Discordant phenotype and sterol biochemistry in Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 2094–2098, Grace Koo, Sandra K. Conley, Christopher A. Wassif and Forbes D. Porter

    Version of Record online : 15 JUL 2010, DOI: 10.1002/ajmg.a.33540

  9. DHCR7 mutations in Brazilian Smith–Lemli–Opitz syndrome patients

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 278–281, F.B. Scalco, L.S. Correa-Cerro, C.A. Wassif, F.D. Porter and D. Moretti-Ferreira

    Version of Record online : 10 JUN 2005, DOI: 10.1002/ajmg.a.30810

  10. School in photodermatology: Smith–Lemli–Opitz syndrome

    Photodermatology, Photoimmunology & Photomedicine

    Volume 22, Issue 4, August 2006, Pages: 200–204, Alex Anstey

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1600-0781.2006.00231.x

  11. You have free access to this content
    DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2057–2062, Małgorzata J.M. Nowaczyk, John S. Waye and James D. Douketis

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31413

  12. You have free access to this content
    Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith–Lemli–Opitz syndrome

    Journal of Internal Medicine

    Volume 252, Issue 4, October 2002, Pages: 314–321, L. Starck, A. Lövgren-Sandblom and I. Björkhem

    Version of Record online : 4 OCT 2002, DOI: 10.1046/j.1365-2796.2002.01037.x

  13. You have free access to this content
    Smith-Lemli-Opitz Syndrome and the DHCR7 Gene

    Annals of Human Genetics

    Volume 67, Issue 3, May 2003, Pages: 269–280, P. E. Jira, H. R. Waterham, R. J. A. Wanders, J. A. M. Smeitink, R. C. A. Sengers and R. A. Wevers

    Version of Record online : 13 JUN 2003, DOI: 10.1046/j.1469-1809.2003.00034.x

  14. Cyclopia (synophthalmia) in Smith–Lemli–Opitz syndrome: First reported case and consideration of mechanism

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 142–145, David D. Weaver, Benjamin D. Solomon, Kelly Akin-Samson, Richard I. Kelley and Maximilian Muenke

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30241

  15. Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

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

    Volume 160C, Issue 4, 15 November 2012, Pages: 285–294, Melissa D. Svoboda, Jill M. Christie, Yasemen Eroglu, Kurt A. Freeman and Robert D. Steiner

    Version of Record online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31347

  16. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction–based assays to simplify genotyping

    American Journal of Medical Genetics

    Volume 94, Issue 3, 18 September 2000, Pages: 214–227, Patrycja A. Krakowiak, Ngozi A. Nwokoro, Christopher A. Wassif, Kevin P. Battaile, Małgorzata J.M. Nowaczyk, William E. Connor, Cheryl Maslen, Robert D. Steiner and Forbes D. Porter

    Version of Record online : 14 SEP 2000, DOI: 10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R

  17. Disorders of Cholesterol Biosynthesis, Genetics of

    Standard Article

    eLS

    Carrie A Phillipi and Robert D Steiner

    Published Online : 30 APR 2008, DOI: 10.1002/9780470015902.a0020223

  18. Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 144–151, Massimiliano Rossi, Pietro Vajro, Raffaele Iorio, Antonella Battagliese, Nicola Brunetti-Pierri, Gaetano Corso, Maja Di Rocco, Paola Ferrari, Francesco Rivasi, Raffaella Vecchione, Generoso Andria and Giancarlo Parenti

    Version of Record online : 3 DEC 2004, DOI: 10.1002/ajmg.a.30426

  19. Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients

    American Journal of Medical Genetics Part A

    Stephanie M. Cologna, Christine Shieh, Cynthia L. Toth, Antony Cougnoux, Kathryn R. Burkert, Simona E. Bianconi, Christopher A. Wassif and Forbes D. Porter

    Version of Record online : 5 MAY 2016, DOI: 10.1002/ajmg.a.37720

  20. Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome

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

    Volume 160C, Issue 4, 15 November 2012, Pages: 295–300, Andrea Diaz-Stransky and Elaine Tierney

    Version of Record online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31342