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There are 5488 results for: content related to: The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  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. 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

  10. You have free access to this content
    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

  11. 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

  12. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols

    Prenatal Diagnosis

    Volume 18, Issue 7, July 1998, Pages: 651–658, G. S. Tint, Dianne Abuelo, Marianne Till, M. P. Cordier, Ashok K. Batta, Sarah Shefer, Akira Honda, Megumi Honda, Guorong Xu, Mira Irons, Ellen R. Elias and Gerald Salen

    Version of Record online : 4 MAY 1999, DOI: 10.1002/(SICI)1097-0223(199807)18:7<651::AID-PD316>3.0.CO;2-V

  13. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

    American Journal of Medical Genetics

    Volume 68, Issue 3, 31 January 1997, Pages: 263–269, Christopher Cunniff, Lisa E. Kratz, Ann Moser, Marvin R. Natowicz and Richard I. Kelley

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970131)68:3<263::AID-AJMG4>3.0.CO;2-N

  14. 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

  15. Neurological Involvement in the Smith-Lemli-Opitz Syndrome: Clinical and Neuropathological Findings

    Developmental Medicine & Child Neurology

    Volume 15, Issue 1, February 1973, Pages: 48–55, Carlos A. Garcia, Paul A. McGarry, Michel Voirol and Caroline Duncan

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1973.tb04865.x

  16. 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

  17. 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

  18. Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference

    American Journal of Medical Genetics

    Volume 50, Issue 4, 1 May 1994, Pages: 326–338, John M. Opitz and Felix de la Cruz

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320500406

  19. 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

  20. Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit

    Prenatal Diagnosis

    Volume 25, Issue 11, November 2005, Pages: 1000–1006, F. Chevy, L. Humbert and C. Wolf

    Version of Record online : 17 OCT 2005, DOI: 10.1002/pd.1254