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There are 972 results for: content related to: Growth charts for individuals with Smith–Lemli–Opitz 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. 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

  3. 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

  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. 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

  6. 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

  7. 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

  8. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

    American Journal of Medical Genetics

    Volume 102, Issue 1, 22 July 2001, Pages: 18–20, Małgorzata J.M. Nowaczyk, Donna McCaughey, Donald T. Whelan and Forbes D. Porter

    Version of Record online : 5 JUL 2001, DOI: 10.1002/1096-8628(20010722)102:1<18::AID-AJMG1376>3.0.CO;2-E

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics

    Volume 93, Issue 5, 28 August 2000, Pages: 360–365, L.M. Linck, D.S. Lin, D. Flavell, W.E. Connor and R.D. Steiner

    Version of Record online : 14 AUG 2000, DOI: 10.1002/1096-8628(20000828)93:5<360::AID-AJMG4>3.0.CO;2-P

  17. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome

    American Journal of Medical Genetics

    Volume 95, Issue 4, 11 December 2000, Pages: 396–398, Małgorzata J.M. Nowaczyk, Tim Heshka, Lisa E. Kratz and Richard E. Kelley

    Version of Record online : 5 DEC 2000, DOI: 10.1002/1096-8628(20001211)95:4<396::AID-AJMG18>3.0.CO;2-L

  18. Smith–Lemli–Opitz syndrome among Arabs

    Clinical Genetics

    Volume 82, Issue 2, August 2012, Pages: 165–172, M Al-Owain, F Imtiaz, T Shuaib, A Edrees, M Al-Amoudi, N Sakati, Z Al-Hassnan, H Bamashmous, Z Rahbeeni, S Al-Ameer, E Faqeih, B Meyer, A Al-Hashem, W Garout, A Al-Odaib, M Rashed and JY Al-Aama

    Version of Record online : 18 JUL 2011, DOI: 10.1111/j.1399-0004.2011.01742.x

  19. 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

  20. 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