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There are 3001 results for: content related to: Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

  1. 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

  2. Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964–1993

    American Journal of Medical Genetics

    Volume 50, Issue 4, 1 May 1994, Pages: 339–343, John M. Opitz, Victor B. Penchaszadeh, Mary C. Holt, LaVelle M. Spano and Vicki L. Smith

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320500407

  3. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics

    Volume 68, Issue 3, 31 January 1997, Pages: 270–278, Angela E. Lin, Holly H. Ardinger, Robert H. Ardinger Jr., Christopher Cunniff and Richard I. Kelley

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970131)68:3<270::AID-AJMG5>3.0.CO;2-Q

  4. Smith-Lemli-Opitz Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 727–738, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch49

  5. 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

  6. Mutational spectrum of Smith–Lemli–Opitz syndrome

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

    Volume 160C, Issue 4, 15 November 2012, Pages: 263–284, Hans R. Waterham and Raoul C.M. Hennekam

    Version of Record online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31346

  7. Smith-Lemli-Opitz (RSH) syndrome bibliography

    American Journal of Medical Genetics

    Volume 28, Issue 3, November 1987, Pages: 745–750, Dr. John M. Opitz, Victor B. Penchaszadeh, Mary C. Holt and LaVelle M. Spano

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320280324

  8. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects

    American Journal of Medical Genetics

    Volume 26, Issue 2, February 1987, Pages: 321–336, Dr. Anthony C. Casamassima, Peter Mamunes, Igor M. Gladstone Jr., Stuart Solomon, Charles Moncure, John M. Opitz and James F. Reynolds

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320260211

  9. 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

  10. 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

  11. 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

  12. Smith-Lemli-Opitz syndrome: a review, case report and dental implications

    Special Care in Dentistry

    Volume 23, Issue 1, January 2003, Pages: 22–27, Kathleen B. Muzzin and Lisa F. Harper

    Version of Record online : 12 MAR 2008, DOI: 10.1111/j.1754-4505.2003.tb00285.x

  13. You have free access to this content
    Growth charts for individuals with Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2707–2713, Ryan W.Y. Lee, John McGready, Sandra K. Conley, Nicole M. Yanjanin, Małgorzata J.M. Nowaczyk and Forbes D. Porter

    Version of Record online : 21 MAY 2012, DOI: 10.1002/ajmg.a.35376

  14. A new face for an old syndrome

    American Journal of Medical Genetics

    Volume 68, Issue 3, 31 January 1997, Pages: 251–256, Richard I. Kelley

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970131)68:3<251::AID-AJMG1>3.0.CO;2-P

  15. 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

  16. Mutations in the human DHCR7 gene

    Human Mutation

    Volume 17, Issue 3, March 2001, Pages: 172–182, Martina Witsch-Baumgartner, Judith Löffler and Gerd Utermann

    Version of Record online : 2 APR 2001, DOI: 10.1002/humu.2

  17. Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome

    Prenatal Diagnosis

    Volume 21, Issue 3, March 2001, Pages: 207–212, Cedric H. L. Shackleton, Esther Roitman, Lisa Kratz and Richard Kelley

    Version of Record online : 16 FEB 2001, DOI: 10.1002/1097-0223(200103)21:3<207::AID-PD27>3.0.CO;2-I

  18. Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome

    Prenatal Diagnosis

    Volume 26, Issue 9, September 2006, Pages: 842–849, Wendy Y. Craig, James E. Haddow, Glenn E. Palomaki, Richard I. Kelley, Lisa E. Kratz, Cedric H. L. Shackleton, Josep Marcos, G. Stephen Tint, Andrew R MacRae, Malgorzata J. Nowaczyk, Edward M. Kloza, Mira B. Irons and Marie Roberson

    Version of Record online : 11 JUL 2006, DOI: 10.1002/pd.1518

  19. The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote

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

    Volume 160C, Issue 4, 15 November 2012, Pages: 242–249, John M. Opitz and Larissa V. Furtado

    Version of Record online : 11 OCT 2012, DOI: 10.1002/ajmg.c.31341

  20. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 125A, Issue 2, 1 March 2004, Pages: 173–176, Małgorzata J.M. Nowaczyk, Diana Martin-Garcia, Angel Aquino-Perna, Miguel Rodriguez-Vazquez, Donna McCaughey, Barry Eng, Lisa M. Nakamura and John S. Waye

    Version of Record online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20676