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There are 2351 results for: content related to: Prenatal Presentation and Diagnostic Evaluation of Suspected Smith– L emli– O pitz ( RSH ) Syndrome

  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. 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

  3. 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

  4. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics

    Volume 98, Issue 2, 15 January 2001, Pages: 191–200, Elaine Tierney, Ngozi A. Nwokoro, Forbes D. Porter, Lisa S. Freund, Jaswinder K. Ghuman and Richard I. Kelley

    Version of Record online : 29 DEC 2000, DOI: 10.1002/1096-8628(20010115)98:2<191::AID-AJMG1030>3.0.CO;2-M

  5. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2129–2136, Cedric H.L. Shackleton, Josep Marcos, Glenn E. Palomaki, Wendy Y. Craig, Richard I. Kelley, Lisa E. Kratz and James E. Haddow

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31901

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

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2060–2068, 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

  7. 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

  8. Adrenal function in Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2732–2738, Simona E. Bianconi, Sandra K. Conley, Meg F. Keil, Ninet Sinaii, Kristina I. Rother, Forbes D. Porter and Constantine A. Stratakis

    Version of Record online : 11 OCT 2011, DOI: 10.1002/ajmg.a.34271

  9. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics

    Volume 82, Issue 5, 19 February 1999, Pages: 376–381, Lisa E. Kratz and Richard I. Kelley

    Version of Record online : 19 FEB 1999, DOI: 10.1002/(SICI)1096-8628(19990219)82:5<376::AID-AJMG4>3.0.CO;2-B

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    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

  11. Disorders of Cholesterol Biosynthesis, Genetics of

    Standard Article

    eLS

    Shibani Kanungo and Robert D Steiner

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

  12. 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

  13. 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

  14. 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

  15. The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 14, 15 July 2006, Pages: 1511–1518, Darryn M. Sikora, Kersti Pettit-Kekel, Jennifer Penfield, Louise S. Merkens and Robert D. Steiner

    Version of Record online : 7 JUN 2006, DOI: 10.1002/ajmg.a.31294

  16. 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

  17. Abnormalities of cholesterol metabolism in autism spectrum disorders

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 141B, Issue 6, 5 September 2006, Pages: 666–668, Elaine Tierney, Irena Bukelis, Richard E. Thompson, Khalid Ahmed, Alka Aneja, Lisa Kratz and Richard I. Kelley

    Version of Record online : 27 JUL 2006, DOI: 10.1002/ajmg.b.30368

  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. You have free access to this content
    A lethal ovitrap-based mass trapping scheme for dengue control in Australia: I. Public acceptability and performance of lethal ovitraps

    Medical and Veterinary Entomology

    Volume 23, Issue 4, December 2009, Pages: 295–302, S. A. RITCHIE, L. P. RAPLEY, C. WILLIAMS, P. H. JOHNSON, M. LARKMAN, R. M. SILCOCK, S. A. LONG and R. C. RUSSELL

    Version of Record online : 17 NOV 2009, DOI: 10.1111/j.1365-2915.2009.00833.x

  20. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 1, 15 September 2003, Pages: 24–29, Fernanda A.A. Langius, Hans R. Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M.J. de Barse, Lambertus Dorland, Marinus Duran, Frits A. Beemer, Ronald J.A. Wanders and Bwee Tien Poll-The

    Version of Record online : 23 MAY 2003, DOI: 10.1002/ajmg.a.20207