Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Cited by (416)

Items 201–300 of 416

1. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
   Hans‐Jürgen Kreienkamp, Matias Wagner, Heike Weigand, Allyn McConkie‐Rosell, Marie McDonald, Boris Keren, Cyril Mignot, Julie Gauthier, Jean‐François Soucy, Jacques L. Michaud et al. · 2021 · Human Genetics
2. 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
3. Modulated DISP3/PTCHD2 expression influences neural stem cell fate decisions
   Jana Konířová, Jana Oltová, Alicia Corlett, Justyna Kopycińska, Michal Kolář, Petr Bartůněk, Martina Zı́ková · 2017 · Scientific Reports
4. 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
5. 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
6. 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
7. 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
8. Central Nervous System Embryogenesis and Its Failures
   Felicitas L. Lacbawan, Maximilian Muenke · 2002 · Pediatric and Developmental Pathology
9. 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
10. Functional implications of splicing polymorphisms in the human genome
    Yerbol Z. Kurmangaliyev, Roman A. Sutormin, Sergey Naumenko, Georgii A. Bazykin, Mikhail Sergeevich Gelfand · 2013 · Human Molecular Genetics
11. mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral Cortex
    Martin Schüle, Tamer Butto, Sri Dewi, Laura Schlichtholz, Susanne Strand, Susanne Gerber, Kristina Endres, Susann Schweiger, Jennifer Winter · 2021 · International Journal of Molecular Sciences
12. 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
13. Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion
    Anuradha S. Pappu, Robert D. Steiner, Sonja L. Connor, Donna P Flavell, Don S. Lin, Lauren F Hatcher, D. Roger Illingworth, William E. Connor · 2002 · Journal of Lipid Research
14. An autonomous, but INSIG-modulated, role for the sterol sensing domain in mallostery-regulated ERAD of yeast HMG-CoA reductase
    Margaret A. Wangeline, Randolph Y. Hampton · 2020 · Journal of Biological Chemistry
15. 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
16. A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC–FID to diagnose the Smith–Lemli–Opitz syndrome
    Monica Gelzo, Stefano Clericuzio, Rosalba Barone, Oceania D’Apolito, Antonio Dello Russo, Gaetano Corso · 2012 · Journal of Chromatography B
17. 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
18. 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
19. 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
20. 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
21. Lexikon der Syndrome und Fehlbildungen
    Regine Witköwski, Otto Prokop, Eva Ullrich · 1999 · Springer eBooks
22. Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome
    C. Patrono, Carlo Dionisi‐Vici, Aldo Giannotti, Bruno Bembi, Maria Cristina Digilio, Cristiano Rizzo, Cristina Purificato, Cleber Costa de Martini, Roberta Pierini, Filippo Maria Santorelli · 2002 · Molecular and Cellular Probes
23. 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
24. 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
25. 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
26. Decreased cerebral spinal fluid neurotransmitter levels in Smith‐Lemli‐Opitz syndrome
    Susan E. Sparks, Christopher A. Wassif, H. Goodwin, Sandra K. Conley, Diane C. Lanham, Lisa E. Kratz, Κ. Hyland, Andrea Lynne Gropman, Elaine Tierney, Forbes D. Porter · 2014 · Journal of Inherited Metabolic Disease
27. 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
28. 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
29. Arthrogryposes (Multiple Congenital Contractures)
    Judith G. Hall · 2014 · Elsevier eBooks
30. 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
31. Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency
    Rebecca A. Anderson, Kevin T. Schwalbach, Stephanie R. Mui, Elizabeth E. LeClair, Jolanta M. Topczewska, Jacek Topczewski · 2020 · Disease Models & Mechanisms
32. 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
33. Disorders of sexual differentiation
    Joe Leigh Simpson · 1999 · American Journal of Medical Genetics
34. 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
35. Clinical involvement and protein expression in individuals with theFMR1 premutation
    Flora Tassone, Randi Jenssen Hagerman, Annette K. Taylor, Janine B. Mills, Susan W. Harris, Louise W. Gane, Paul J. Hagerman · 2000 · American Journal of Medical Genetics
36. Anesthetic considerations in Smith-Lemli-Opitz syndrome
    Peter T. -L. Choi, Małgorzata J.M. Nowaczyk · 2000 · Canadian Journal of Anesthesia/Journal canadien d anesthésie
37. 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
38. 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
39. 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
40. Developmental Biology: Frontiers for Clinical Genetics
    Roderick R. McInnes · 1998 · Clinical Genetics
41. 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
42. 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
43. Tunneling in tocopherol-mediated peroxidation of 7-dehydrocholesterol
    Hubert Muchalski, Libin Xu, Ned A. Porter · 2014 · Organic & Biomolecular Chemistry
44. An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene
    Verity L. Hartill, Carolyn J. Tysoe, Nigel J. Manning, Angus Dobbie, Saikat Santra, John H. Walter, Richard C. Caswell, Janet Koster, Hans R. Waterham, Emma Hobson · 2014 · American Journal of Medical Genetics Part A
45. 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
46. Prenatal exposure to bisphenol A disrupts RNA splicing in the prefrontal cortex and promotes behaviors related to autism in offspring
    Pawinee Panjabud, Songphon Kanlayaprasit, Surangrat Thongkorn, Kwanjira Songsritaya, Pattanachat Lertpeerapan, Kasidit Kasitipradit, Thanawin Jantheang, Suthathip Sarobol, Thanit Saeliw, Valerie Wailin Hu et al. · 2025 · Scientific Reports
47. Ciliary membrane, localised lipid modification and cilia function
    Priya Dutta, Krishanu Ray · 2022 · Journal of Cellular Physiology
48. Targeting 7-dehydrocholesterol reductase against EV-A71 replication by upregulating interferon response
    Huiqiang Wang, Boming Cui, Haiyan Yan, Shuo Wu, Kun Wang, Ge Hoa Yang, Jian‐Dong Jiang, Yuhuan Li · 2022 · Antiviral Research
49. 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
50. RNA‐Seq identifies genes whose proteins are upregulated during syncytia development in murine C2C12 myoblasts and human BeWo trophoblasts
    Christopher G. Azar, Mark C. Valentine, Julie S. Trausch‐Azar, Lisa E. Rois, Moe R. Mahjoub, D. Michael Nelson, Alan L. Schwartz · 2021 · Physiological Reports
51. Corpus Callosum Measurements Correlate With Developmental Delay in Smith-Lemli-Opitz Syndrome
    Ryan W.Y. Lee, Shoko Yoshida, Eun Sol Jung, Susumu Mori, Eva H. Baker, Forbes D. Porter · 2013 · Pediatric Neurology
52. 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
53. 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
54. Cholesterol homeostasis in development: The role of Xenopus 7‐dehydrocholesterol reductase (Xdhcr7) in neural development
    Emmanuel Tadjuidje, Thomas Hollemann · 2006 · Developmental Dynamics
55. A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita
    Xénia Latypova, Stefan G. Creadore, Noémi Dahan‐Oliel, Anxhela Gjyshi Gustafson, Steven Wei-Hung Hwang, Tanya Bedard, Kamran Shazand, Harold J. P. van Bosse, Philip F. Giampietro, Klaus D. Dieterich · 2021 · Genes
56. Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter is a Variant of the Former
    Dinesh Rakheja, Golder N. Wilson, Beverly Barton Rogers · 2003 · Pediatric and Developmental Pathology
57. 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
58. 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
59. 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
60. 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
61. Melatonin profiles and sleep characteristics in boys with fragile X syndrome: A preliminary study
    Emma L. Gould, Danuta Z. Loesch, Marion J. Martin, Randi Jenssen Hagerman, Stuart Maxwell Armstrong, Richard Huggins · 2000 · American Journal of Medical Genetics
62. 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
63. Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis
    Amitabha Chattopadhyay, Ashwani Sharma · 2023 · Frontiers in Molecular Biosciences
64. 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
65. 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
66. 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
67. Inhibition of post-lanosterol biosynthesis by fentanyl: potential implications for Fetal Fentanyl Syndrome (FFS)
    Željka Korade, Allison C. Anderson, Kanika Sharma, Keri A. Tallman, Hye‐Young Kim, Ned A. Porter, Karen Webster Gripp, Károly Mirnics · 2024 · Molecular Psychiatry
68. Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
    Hyewon Woo, Jung Min Ko, Choong Ho Shin, Sei Won Yang · 2016 · Journal of genetic medicine
69. Malformation syndromes due to inborn errors of cholesterol synthesis
    Forbes D. Porter · 2002 · Journal of Clinical Investigation
70. Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization
    Manuel Nistal, Ricardo Paniagua, Pilar González‐Peramato, Miguel Reyes‐Múgica · 2014 · Pediatric and Developmental Pathology
71. 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
72. 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
73. Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease
    Takeshi Itabashi, Kosuke Hosoba, Tomoka Morita, Sotai Kimura, Kenji Yamaoka, Moe Hirosawa, Daigo Kobayashi, Hiroko Kishi, Kodai Kume, Hiroshi Itoh et al. · 2025 · Life Science Alliance
74. 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
75. Photomedicine: lessons from the Smith–Lemli–Opitz syndrome
    Alexander V. Anstey · 2001 · Journal of Photochemistry and Photobiology B Biology
76. 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
    A.V. Anstey, Richard Michael Azurdia, Lesley Elizabeth Rhodes, Anthony D. Pearse, Paul E. Bowden · 2005 · British Journal of Dermatology
77. 7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome
    Myriam Gou-Fàbregas, Anna Macià, Carlos Anerillas, Marta Vaquero, Mariona Jové, Sanjay R. Jain, Joan Ribera, Mario Encinas · 2016 · Scientific Reports
78. DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients
    Fernanda B. Scalco, Lina S. Correa-Cerro, Christopher A. Wassif, Forbes D. Porter, Danilo Moretti‐Ferreira · 2005 · American Journal of Medical Genetics Part A
79. Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome
    Małgorzata J.M. Nowaczyk, Barry Eng, John S. Waye, Sandra A. Farrell, Wilma L. Sirkin · 2003 · American Journal of Medical Genetics Part A
80. Plasma and thrombocyte levels of coenzyme Q10 in children with Smith‐Lemli‐Opitz syndrome (SLOS) and the influence of HMG‐CoA reductase inhibitors
    Dorothea Haas, Petra Niklowitz, Georg Friedrich Hoffmann, Werner Andler, Thomas Menke · 2008 · BioFactors
81. Newly recognised craniosynostosis syndrome that does not map to known disease loci
    Edward Blair, Sinéad Walsh, Michael Oldridge, S. A. Wall, Andrew O.M. Wilkie · 2000 · American Journal of Medical Genetics
82. Cystic Fibrosis Syndrome: A New Paradigm for Inherited Disorders and Implications for Molecular Diagnostics
    Kenneth J. Friedman, Lawrence M. Silverman · 1999 · Clinical Chemistry
83. Cholesterol alterations in fragile X syndrome, autism spectrum disorders and other neurodevelopmental disorders
    Sérine Benachenhou, Asma Laroui, Olivier Dionne, Daniela Rojas, Amanda Toupin, Artuela Çaku · 2023 · International review of neurobiology
84. School in photodermatology: Smith–Lemli–Opitz syndrome
    Alex V. Anstey · 2006 · Photodermatology Photoimmunology & Photomedicine
85. Congenital Anomalies and Genetic Associations in Hirschsprung’s Disease
    Samuel William Moore · 2007 · Springer eBooks
86. Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome
    Ma gorzata J.M. Nowaczyk, Diana Martin Garcia, Barry Eng, John S. Waye · 2001 · American Journal of Medical Genetics
87. Independent and interactive associations of season, dietary vitamin D, and vitamin D-related genetic variants with serum 25(OH)D in Korean adults aged 40 years or older
    Jiseon Lee, Hye Won Woo, Jihye Kim, Min‐Ho Shin, InSong Koh, Bo Youl Choi, Mi Kyung Kim · 2021 · Endocrine Journal
88. Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann–Pick type C disease and Smith–Lemli–Opitz syndrome using light sheet microscopy
    Sophie R. Cook, Cerys E. Bladen, Johanna A. Smith, Emily Maguire, Jordan Copner, Gareth D. Fenn, Kim Wager, Helen Waller‐Evans, Emyr Lloyd‐Evans · 2020 · Histochemistry and Cell Biology
89. Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome
    Timothy M. Evans, Alisa M. Poh, Charlotte Webb, Brandon J. Wainwright, Carol Wicking, Ian A. Glass, William F. Carey, Michael Fietz · 2001 · American Journal of Medical Genetics
90. Smith‐Lemli‐Opitz syndrome: a review, case report and dental implications
    Kathleen B. Muzzin, Lisa F. Mallonee · 2003 · Special Care in Dentistry
91. Retinal Degeneration and Cholesterol Deficiency
    Steven J. Fliesler · 2014 · Elsevier eBooks
92. Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome
    Gökhan Ertuğrul, Yücel Yankol, Nesimi Mecit, Hale Kırımlıoğlu, Turan Kanmaz, Koray S. ACARLI, Münci Kalayoğlu · 2019 · Experimental and Clinical Transplantation
93. Temporal changes in the brain lipidome during neurodevelopment of Smith–Lemli–Opitz syndrome mice
    Amy Li, Kelly Marie Hines, Dylan H. Ross, James W. MacDonald, Libin Xu · 2022 · The Analyst
94. Proteomics research of SARS-CoV-2 and COVID-19 disease
    Nan Zhang, Siyuan Wang, Catherine C. L. Wong · 2022 · Medical Review
95. Metabolic Engineering to Enhance Provitamin D 3 Accumulation in Edible Tomatoes
    Sunmee Choi, Min Kyoung You, Yun-A Jeon, Jaebok Lee, Jin‐Hwa Kim, Young Jin Park, Jeongmo Kim, Jongjin Park, Jae Kwang Kim, Sunghwa Choe · 2023 · GEN Biotechnology
96. Causes of Congenital Malformations
    Martin M. Y. Lammens, John M. G. van Vugt, Michèl A.A.P. Willemsen, Patrick J. van der Voorn, Hans van Bokhoven, Hans J. ten Donkelaar · 2014 · Springer eBooks
97. Alobar holoprosencephaly with cyclopia – Autopsy-based observations from one medical center
    Jarosław Swatek, Justyna Szumiło, Franciszek Burdan · 2013 · Reproductive Toxicology
98. Hydrolethalus syndrome, in contrast to Smith–Lemli–Opitz syndrome, is not due to a defect in post‐squalene cholesterol biosynthesis: A case report
    Dinesh Rakheja, Michael L. Cimo, Ronald M. Ramus, Beverly Barton Rogers, Michael J. Bennett, Philip J. Boyer, Rene L. Galindo · 2004 · American Journal of Medical Genetics Part A
99. Edematous polydactyly in Smith‐Lemli–Opitz syndrome Type II
    Lyn S. Chitty, Glenn J. Gardener, Timothy G. Overton · 2004 · Ultrasound in Obstetrics and Gynecology
100. The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome
     Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito, Donatella Milani · 2016 · BMC Medical Genetics