Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Cited by (294)

Items 101–200 of 294

1. Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome
   Ma gorzata J.M. Nowaczyk, Lisa N. Nakamura, Barry Eng, Forbes D. Porter, John S. Waye · 2001 · American Journal of Medical Genetics
2. The genetics of hypoplastic left heart syndrome
   Paul Grossfeld · 1999 · Cardiology in the Young
3. Cyclopia (synophthalmia) in Smith–Lemli–Opitz syndrome: First reported case and consideration of mechanism
   David D. Weaver, Benjamin D. Solomon, Kelly K Akin, Richard I. Kelley, Maximilian Muenke · 2010 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
4. Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis
   Xiao-Sheng Jiang, Peter S. Backlund, Christopher A. Wassif, Alfred L. Yergey, Forbes D. Porter · 2010 · Molecular & Cellular Proteomics
5. Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome
   Richard Michael Azurdia, Alexander V. Anstey, Lesley Elizabeth Rhodes · 2001 · British Journal of Dermatology
6. Abnormal sterol metabolism in holoprosencephaly
   Dorothea Haas, Maximilian Muenke · 2010 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
7. Annexin-1 is abnormally expressed in Fragile X syndrome: Two-dimensional electrophoresis study in lymphocytes
   Hong-Tao Sun, Sonia Cohen, Walter E. Kaufmann · 2001 · American Journal of Medical Genetics
8. Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications
   Xiao-Sheng Jiang, Christopher A. Wassif, Peter S. Backlund, Song Li, Lynne A. Holtzclaw, Zheng Li, Alfred L. Yergey, Forbes D. Porter · 2010 · Human Molecular Genetics
9. Diagnosis and Treatment of Disorders of Sexual Development
   Rodolfo Alberto Rey, Nathalie Josso · 2015 · Elsevier eBooks
10. Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome
    C.H.L. Shackleton, Esther Roitman, Lisa E. Kratz, Richard I. Kelley · 2001 · Prenatal Diagnosis
11. Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.
    Małgorzata J.M. Nowaczyk, Donald T. Whelan, Timothy W. Heshka, Robert E. Hill · 1999 · Europe PMC (PubMed Central)
12. Permeability and microstructure of cholesterol-depleted skin lipid membranes and human stratum corneum
    Michaela Sochorová, Pavla Jančálková, Martina Červená, Andrej Kováčik, Monika Kopečná, Lukáš Opálka, Petra Pullmannová, Kateřina Vávrová · 2018 · Journal of Colloid and Interface Science
13. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R): Figure 1
    Barbara Burwinkel, M. Stuart Tanner, Manfred W. Kilimann · 2000 · Journal of Medical Genetics
14. Marked alteration of sterol metabolism and composition without compromising retinal development or function.
    Steven J. Fliesler, M J Richards, C Miller, Neal S. Peachey · 1999 · PubMed
15. Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25
    Ilona Visapää, Riitta Salonen, Teppo Varilo, Paulina Paavola, Leena Peltonen · 1999 · The American Journal of Human Genetics
16. Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient
    Judith Loeffler, Gerd Utermann, Martina Witsch‐Baumgartner · 2002 · Prenatal Diagnosis
17. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome
    Shinji Saitoh, NAOKI OISO, TAKAHITO WADA, OSAMU NARAZAKI, KAZUYOSHI FUKAI · 2000 · Journal of Medical Genetics
18. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations
    Daniele De Brasi, Teresa Esposito, Massimiliano Rossi, Giancarlo Parenti, MP Sperandeo, Alfredo Zuppaldi, Tiziana Bardaro, M.Amalia Ambruzzi, Leopoldo Zelante, Alfredo Ciccodicola et al. · 1999 · European Journal of Human Genetics
19. Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism
    Barbara U. Fitzky, Hartmut H. Glossmann, Gerd Utermann, Fabian F. Moebius · 1999 · Current Opinion in Lipidology
20. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol ?7-reductase activity in chorionic villi
    Leesa M. Linck, Susan J. Hayflick, Don S. Lin, K.P. Battaile, Sharon Ginat, Terry G. Burlingame, K. Michael Gibson, M. Honda, Akira Honda, G Salen et al. · 2000 · Prenatal Diagnosis
21. Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol‐synthesis defect Smith–Lemli–Opitz syndrome
    Lena Starck, Anita Lövgren‐Sandblom, Ingemar Björkhem · 2002 · Journal of Internal Medicine
22. A physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humans
    Niek C.A. van de Pas, Ruud A. Woutersen, Ben van Ommen, Ivonne M.C.M. Rietjens, Albert A. de Graaf · 2012 · Journal of Lipid Research
23. Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome
    Petr E Jira, Ronald J. A. Wanders, Jan A. M. Smeitink, Jan G.N. de Jong, Ron A. Wevers, Wendy Oostheim, Joep H.A.M. Tuerlings, Raoul C. M. Hennekam, R. C. A. Sengers, Hans R. Waterham · 2001 · Annals of Human Genetics
24. Discordant fetal sex on NIPT and ultrasound
    Maria-Elisabeth Smet, Fergus Scott, Andrew McLennan · 2020 · Prenatal Diagnosis
25. DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome
    Elżbieta Ciara, Ma gorzata J.M. Nowaczyk, Martina Witsch‐Baumgartner, E Małunowicz, Ewa Popowska, Aleksandra Jezela‐Stanek, Małgorzata Piotrowicz, John S. Waye, Gerd Utermann, Małgorzata Krajewska‐Walasek · 2004 · Clinical Genetics
26. Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndrome
    F A Langius, Hans R. Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M.J. de Barse, Lambertus DORLAND, Marinus Durán, Frits A. Beemer, Ronald J. A. Wanders, Bwee Tien Poll‐The · 2003 · American Journal of Medical Genetics Part A
27. Normal cognition and behavior in a Smith‐Lemli‐Opitz syndrome patient who presented with Hirschsprung disease
    Catherine L. Mueller, Shailendra B. Patel, Mira Irons, Kevin M. Antshel, G Salen, G S Tint, Carolyn A. Bay · 2003 · American Journal of Medical Genetics Part A
28. Immunohistochemical and Microarray Analyses of a Mouse Model for the Smith-Lemli-Opitz Syndrome
    Heather Waage-Baudet, William C. Dunty, Deborah B. Dehart, Sylvia Hiller, Kathleen K. Sulik · 2005 · Developmental Neuroscience
29. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations
    Elżbieta Ciara, Ewa Popowska, Dorota Piekutowska‐Abramczuk, Dorota Jurkiewicz, Maria Borucka-Mankiewicz, Paweł Kowalski, B. Goryluk‐Kozakiewicz, Małgorzata J.M. Nowaczyk, Małgorzata Krajewska‐Walasek · 2006 · European Journal of Medical Genetics
30. Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations
    Barbara Lanthaler, Elisabeth Steichen‐Gersdorf, Barbara Kollerits, Johannes Zschocke, Martina Witsch‐Baumgartner · 2012 · European Journal of Human Genetics
31. Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and Italy
    Martina Witsch‐Baumgartner, Peter Theodore Clayton, Núria Clusellas, Dorothea Haas, Richard I. Kelley, Małgorzata Krajewska‐Walasek, Silvia Lechner, Massimiliano Rossi, Johannes Zschocke, Gerd Utermann · 2005 · Human Mutation
32. Silver-Russell syndrome and ring chromosome 7
    Emma L. Wakeling, Megan Philippa Hitchins, Philip Stanier, David Monk, Gudrun E. Moore, Michael A. Preece · 2000 · Journal of Medical Genetics
33. Cloning and expression of sterol Δ14‐reductase from bovine liver
    Rita Roberti, Anna Maria Bennati, Giovanni Galli, Donatella Caruso, Bruno Maras, Maria Cristina Aisa, Tommaso Beccari, Maria Agnese Della Fazia, Giuseppe Servillo · 2002 · European Journal of Biochemistry
34. Effects of Dietary Cholesterol on Plasma Lipoproteins in Smith-Lemli-Opitz Syndrome
    Louise S. Merkens, William E. Connor, Leesa M. Linck, Don S. Lin, Donna P Flavell, Robert D. Steiner · 2004 · Pediatric Research
35. Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria
    K. M. Keller, Helen McCune, Charles A. Williams, Maximilian Muenke · 2000 · American Journal of Medical Genetics
36. Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance
    Małgorzata J.M. Nowaczyk, Susan Zeesman, John S. Waye, James Demetrios Douketis · 2004 · The Journal of Pediatrics
37. Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits
    Tierney, Elaine, Remaley, Alan T., Thurm, Audrey, Jager, Leah R., Wassif, Christopher A., Kratz, Lisa E., Bailey-Wilson, Joan E., Bukelis, Irena, Sarphare, Geeta, Jung, Eun Sol et al. · 2021 · Translational Psychiatry
38. Vitamin D status in patients affected by Smith‐Lemli‐Opitz syndrome
    Massimiliano Rossi, Giovanni Federico, Gaetano Corso, Giancarlo Parenti, Antonella Battagliese, A. R. Frascogna, Roberto Della Casa, Antonio Dello Russo, Pietro Strisciuglio, Giuseppe Saggese et al. · 2005 · Journal of Inherited Metabolic Disease
39. Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature
    Aleksandra Jezela‐Stanek, Elżbieta Ciara, E Małunowicz, Lech Korniszewski, Dorota Piekutowska‐Abramczuk, Ewa Popowska, Małgorzata Krajewska‐Walasek · 2007 · European Journal of Medical Genetics
40. The Hedgehog signaling pathway – implications for drug targets in cancer and neurodegenerative disorders
    Mads Bak, Claus Hansen, Niels Tommerup, Lars Allan Larsen · 2003 · Pharmacogenomics
41. Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome
    Valeria Cammareri, Gabriele Vignati, Gianfranco Nocera, Paolo Beck‐Peccoz, Luca Persani · 1999 · American Journal of Medical Genetics
42. Chemical Inhibition of Sterol Biosynthesis
    Eric S. Peeples, Károly Mirnics, Željka Korade · 2024 · Biomolecules
43. Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern
    Katharina Schoner, Martina Witsch‐Baumgartner, Jana Behunova, Róbert Petrovič, Rainer Bald, Susanne Gerit Kircher, Annette Ramaswamy, Britta Kluge, Matthias Meyer‐Wittkopf, Ralf Schmitz et al. · 2019 · Birth Defects Research
44. Steroid hormones of the octopus self-destruct system
    Z. Yan Wang, Melissa R. Pergande, Clifton W. Ragsdale, Stephanie M. Cologna · 2022 · Current Biology
45. Cole‐Hughes macrocephaly syndrome and associated autistic manifestations
    Syed Naqvi, Trevor R. P. Cole, John M. Graham · 2000 · American Journal of Medical Genetics
46. Transcriptomic changes upon epoxiconazole exposure in a human stem cell-based model of developmental toxicity
    Karin Lauschke, Marlene Dalgaard, Jenny Emnéus, Anne Marie Vinggaard · 2021 · Chemosphere
47. Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome
    Oláh, Anna V., Szabó, Gabriella P., Varga, József, Balogh, Lídia, Csábi, Györgyi, Csákváry, Violetta, Erwa, Wolfgang, Balogh, István · 2013 · European Journal of Pediatrics
48. No linkage or association of the IL-4Rα gene Q576R mutation with atopic asthma in Italian families: Figure 1
    Cristina Patuzzo, ELISABETTA TRABETTI, GIOVANNI MALERBA, LAURA CARMEN MARTINATI, ATTILIO L BONER, LYDIA PESCOLLDERUNGG, GIOVANNA ZANONI, PIER FRANCO PIGNATTI · 2000 · Journal of Medical Genetics
49. Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype
    Chitra Prasad, Sandra L. Marles, Asuri Narayan Prasad, Sarah M. Nikkel, Sally E. A. Longstaffe, Deborah Peabody, Barry Eng, Sarah Wright, John S. Waye, Małgorzata J.M. Nowaczyk · 2002 · American Journal of Medical Genetics
50. Growth charts for individuals with Smith-Lemli-Opitz syndrome
    Lee, Ryan W.Y., McGready, John, Conley, Sandra K., Yanjanin, Nicole M., Nowaczyk, Małgorzata J.M., Porter, Forbes D. · 2012 · American Journal of Medical Genetics Part A
51. TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis
    Andri Christodoulou, Giannis Maimaris, Andri Makrigiorgi, Evelina Charidemou, Christian Lüchtenborg, Antonis Ververis, Renos Georgiou, Carsten Werner Lederer, Christof Haffner, Britta Brügger et al. · 2020 · Journal of Cell Science
52. Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans
    B. S. Wright, N. Nwokoro, C. Wassif, F. Porter, John S. Waye, B. Eng, M. Nowaczyk · 2003 · American Journal of Medical Genetics. Part A
53. Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype
    Małgorzata J.M. Nowaczyk, Mattea L. Tan, Jemila S. Hamid, Judith E Allanson · 2012 · American Journal of Medical Genetics Part A
54. Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist
    Natan Gadoth, Arie Oksenberg · 2014 · Frontiers in Neurology
55. Discordant phenotype and sterol biochemistry in Smith–Lemli–Opitz syndrome
    Grace Koo, Sandra K. Conley, Christopher A. Wassif, Forbes D. Porter · 2010 · American Journal of Medical Genetics Part A
56. Hirschsprung disease, associated syndromes and genetics : a review Jeanne AMIEL for the International Consortium on Hirschsprung Disease
    Jeanne Amiel, Eileen Sproat Emison, Merce Garcia-Barceo, Francesca Lantieri, Salud Borrego, Anna Pelet, Stacy J. Arnold, Xiaoping Miao, Paola Griseri, Alice S. Brooks et al. · 2007
57. Maternal cholesterol levels during gestation: boon or bane for the offspring?
    V. S. Jayalekshmi, Surya Ramachandran · 2020 · Molecular and Cellular Biochemistry
58. Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary
    István Balogh, Katalin Koczok, György Szabó, Olga Török, Kinga Hadzsiev, Györgyi Csábí, Lídia Balogh, Erika Dzsudzsák, Éva Ajzner, L. Szabó et al. · 2012 · Molecular Syndromology
59. Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
    Aleksandra Jezela‐Stanek, Elżbieta Ciara, E Małunowicz, Krystyńa Chrzańowska, Anna Latos‐Bieleńska, Małgorzata Krajewska‐Walasek, The Smith‐Lemli‐Opitz syndrome (SLOS) Collaborative Group · 2010 · Journal of Inherited Metabolic Disease
60. Enhanced placental cholesterol efflux by fetal HDL in Smith–Lemli–Opitz syndrome
    Katie T. Jenkins, Louise S. Merkens, Matthew R. Tubb, Leslie Myatt, William Sean Davidson, Robert D. Steiner, Laura A. Woollett · 2008 · Molecular Genetics and Metabolism
61. R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients
    Yoshiyuki Matsumoto, Ken‐ichi Morishima, Akira Honda, Shoji Watabe, Misa Yamamoto, Masayuki Hara, Masaki Hasui, Chikako Saito, Toshimitsu Takayanagi, Tsutomu Yamanaka et al. · 2005 · Journal of Human Genetics
62. Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome
    Małgorzata J.M. Nowaczyk, Diana Martín-García, Angel Alfonso Aquino Perna, Miguel Rodríguez-Vázquez, Donna McCaughey, Barry Eng, Lisa N. Nakamura, John S. Waye · 2003 · American Journal of Medical Genetics Part A
63. Prenatal death in Smith-Lemli-Opitz/RSH syndrome
    Angelica R. Putnam, Juliana G. Szakacs, John M. Opitz, Janice L. B. Byrne · 2005 · American Journal of Medical Genetics Part A
64. Prevalence of sleep problems in Smith‐Lemli‐Opitz syndrome
    Marcin Żarowski, Martina Vendrame, Mira Irons, Sanjeev V. Kothare · 2011 · American Journal of Medical Genetics Part A
65. Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families
    Libor Kozák, Hana Skuhrová Francová, Eva Hrabincová, Dagmar Procházková, Vera Juttnerova, Vladimı́r Bzdúch, Petr Šimek · 2000 · Journal of Inherited Metabolic Disease
66. A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis
    Jae Sung Ko, Byeong Sam Choi, Jeong Kee Seo, Jee Yeon Shin, Jong‐Hee Chae, Gyeong Hoon Kang, Ran Lee, Chang‐Seok Ki, Jong‐Won Kim · 2009 · Journal of Korean Medical Science
67. Vitamin D levels in Smith‐Lemli‐Opitz syndrome
    Miyad Movassaghi, Simona E. Bianconi, Richard Feinn, Christopher A. Wassif, Forbes D. Porter · 2017 · American Journal of Medical Genetics Part A
68. Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith–Lemli–Opitz syndrome
    Željka Korade, Oakleigh M. Folkes, Fiona Edith Harrison · 2013 · Pharmacology Biochemistry and Behavior
69. Sex determination and the Y chromosome
    Ken McElreavey, Marc Fellous · 1999 · American Journal of Medical Genetics
70. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome
    Ma gorzata J.M. Nowaczyk, Victoria Mok Siu, Patrycja A. Krakowiak, Forbes D. Porter · 2001 · American Journal of Medical Genetics
71. Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome
    C. Patrono, Cristiano Rizzo, Alessandra Tessa, Aldo Giannotti, Patrizia Borrelli, Rosalba Carrozzo, Fiorella Piemonte, Enrico Bertini, Carlo Dionisi‐Vici, Filippo Maria Santorelli · 2000 · American Journal of Medical Genetics
72. Anesthetic considerations in Smith-Lemli-Opitz syndrome
    Peter T. -L. Choi, Małgorzata J.M. Nowaczyk · 2000 · Canadian Journal of Anesthesia/Journal canadien d anesthésie
73. A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly
    Yhong‐Hee Shim, Soo‐Han Bae, Jai-Hyun Kim, Kyu-Rae Kim, Chong Jai Kim, Young‐Ki Paik · 2004 · Biochemical and Biophysical Research Communications
74. Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity
    Kathy Pritchard‐Jones, NAZNEEN RAHMAN, MARY GERRARD, DICK VARIEND, LINDA KING-UNDERWOOD · 2000 · Journal of Medical Genetics
75. Intestinal Absorption of Cholesterol by Patients with Smith-Lemli-Opitz Syndrome
    Don S. Lin, Robert D. Steiner, Donna P Flavell, William E. Connor · 2005 · Pediatric Research
76. Photosensitivity in the Smith-Lemli-Opitz syndrome: The US experience of a new congenital photosensitivity syndrome
    A.V. Anstey, C.R. Taylor · 1999 · Journal of the American Academy of Dermatology
77. Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome
    M. Honda, G. Stephen Tint, Akira Honda, G Salen, Sarah Shefer, A K Batta, Yumi Matsuzaki, Namiko Tanaka · 2000 · Journal of Inherited Metabolic Disease
78. No evidence for mevalonate shunting in moderately affected children with Smith‐Lemli‐Opitz syndrome
    Jean‐Baptiste Roullet, Louise S. Merkens, Anuradha S. Pappu, Megan D. Jacobs, Rolf Walter Winter, William E. Connor, Robert D. Steiner · 2012 · Journal of Inherited Metabolic Disease
79. Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly ( HPE1 )
    Erich Roessler, L. Mittaz, Yangzhu Du, Hamish S. Scott, Justin Chang, Colette Rossier, Michel Guipponi, Seiichi P. T. Matsuda, Maximilian Muenke, Stylianos E. Antonarakis · 1999 · Human Genetics
80. Novel mutation in the Δ‐sterol reductase gene in three Lebanese sibs with Smith‐Lemli‐Opitz (RSH) syndrome
    Marjan M. Nezarati, Judith Loeffler, Grace Yoon, Linda MacLaren, Ernest Fung, Floyd F. Snyder, Gerd Utermann, Gail E. Graham · 2002 · American Journal of Medical Genetics
81. DHCR7 links cholesterol synthesis with neuronal development and axonal integrity
    Shuya Miyazaki, Nobuyuki Shimizu, Hiroaki Miyahara, Hitoshi Teranishi, Ryohei Umeda, Shinji Yano, Tatsuo Shimada, Hiroshi Shiraishi, Kosaku Komiya, Akira Katoh et al. · 2024 · Biochemical and Biophysical Research Communications
82. Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities
    Amy Kritzer, Rana Dutta, Tiziano Pramparo, Jolan Terner-Rosenthal, Pamela Vig, Robert D. Steiner · 2025 · Genetics in Medicine
83. Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome
    Isabelle Weinhofer, Markus Kunze, Herbert Stangl, Forbes D. Porter, Johannes Berger · 2006 · Biochemical and Biophysical Research Communications
84. Anticipation in progressive diaphyseal dysplasia
    Jorge Saraiva · 2000 · Journal of Medical Genetics
85. A Simple PCR-Based Assay Allows Detection of a Common Mutation, IVS8-1G→C, in DHCR7 in Smith-Lemli-Opitz Syndrome
    K.P. Battaile, Cheryl L. Maslen, Christopher A. Wassif, Patrycja A. Krakowiak, Forbes D. Porter, Robert D. Steiner · 1999 · Genetic Testing
86. Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7
    Maria Luı́s Cardoso, Andrea Balreira, Esmeralda Martins, Luís Nunes, Aguinaldo Cabral, Maria Eduarda Marques, Margarida Reis Lima, Jorge Sales Marques, Ana Medeira, I. Cordeiro et al. · 2005 · Molecular Genetics and Metabolism
87. Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome
    Montserrat Serra, Xavier Matabosch, Lee Ying, Gordon L. Watson, C.H.L. Shackleton · 2010 · The Journal of Steroid Biochemistry and Molecular Biology
88. Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level
    Heli Honkala, Jenni Lahtela, Heli Fox, Massimiliano Gentile, Niklas A. Pakkasjärvi, Riitta Salonen, Kirmo Wartiovaara, Matti Jauhiainen, Marjo Kestilä · 2009 · PathoGenetics
89. Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse
    Curzio Solcà, Bhaswati Pandit, Hongwei Yu, G S Tint, Shailendra B. Patel · 2007 · Molecular Genetics and Metabolism
90. Family and molecular data for a fine analysis of age at onset in Huntington disease
    Ferdinando Squitieri, Guglielmo Sabbadini, Paola Mandich, Cinzia Gellera, Emilio Di Maria, Emilia Bellone, Barbara Castellotti, E. Nargi, Ugo de Grazia, Marina Frontali et al. · 2000 · American Journal of Medical Genetics
91. Auditory phenotype of Smith–Lemli–Opitz syndrome
    Christopher K. Zalewski, Sarah A. Sydlowski, Kelly A. King, Simona E. Bianconi, An Ngoc Dang Do, Forbes D. Porter, Carmen C. Brewer · 2021 · American Journal of Medical Genetics Part A
92. Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis
    Amitabha Chattopadhyay, Ashwani Sharma · 2023 · Frontiers in Molecular Biosciences
93. Normal IQ is possible in Smith‐Lemli‐Opitz syndrome
    Yasemen Eroğlu, Mina D. Nguyen-Driver, Robert D. Steiner, Louise S. Merkens, Mark J. Merkens, Jean‐Baptiste Roullet, Ellen Roy Elias, Geeta Sarphare, Forbes D. Porter, Chumei C. Li et al. · 2017 · American Journal of Medical Genetics Part A
94. Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice
    Hongwei Yu, Man Li, G S Tint, Jianliang Chen, Guorong Xu, Shailendra B. Patel · 2007 · BMC Developmental Biology
95. Incidence and molecular mechanism of aberrant splicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome
    Hans R. Waterham, Wendy Oostheim, Gerrit Jan Romeijn, Ronald J. A. Wanders, Raoul C. M. Hennekam · 2000 · Journal of Medical Genetics
96. Role of microsomal steroid hydroxylases in Δ7-steroid biosynthesis
    Sushko, T. A., Gilep, A. A., Yantsevich, A. V., Usanov, S. A. · 2013 · Biochemistry (Moscow)
97. Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization
    Manuel Nistal, Ricardo Paniagua, Pilar González‐Peramato, Miguel Reyes‐Múgica · 2014 · Pediatric and Developmental Pathology
98. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith–Lemli–Opitz syndrome
    Sharon Ginat, K.P. Battaile, Brian C. Battaile, Cheryl L. Maslen, K. Michael Gibson, Robert D. Steiner · 2004 · Molecular Genetics and Metabolism
99. Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities
    Markku J. Nissinen, Helena Gylling, Markus Kaski, Paavo Tammisto, Suvi Mieskonen, Jaakko Ignatius, Tatu A. Miettinen · 2000 · Journal of Laboratory and Clinical Medicine
100. Challenging Behavior in Smith-Lemli-Opitz Syndrome
     Kurt A. Freeman, Rose F. Eagle, Louise S. Merkens, Darryn M. Sikora, K. Pettit-Kekel, Mina D. Nguyen-Driver, Robert D. Steiner · 2013 · Cognitive and Behavioral Neurology