المؤلفون: Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA., Spranger J; Children's Hospital, University of Mainz, Mainz, Germany., Lewin S; Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA., Neri G; Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63482. Date of Electronic Publication: 2023 Nov 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Physicians* , Genetics, Medical* , Smith-Lemli-Opitz Syndrome*, Humans

المؤلفون: Gabor K; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Mesev EV; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Madenspacher J; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Meacham J; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Rai P; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Moon S; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Wassif CA; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Shaikh SR; Department of Nutrition, Gillings School of Global Public Health and School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Tucker CJ; Fluorescence Microscopy and Imaging Center, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Karmaus P; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA., Bianconi S; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Fessler MB; Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jan 18; Vol. 134 (6). Date of Electronic Publication: 2024 Jan 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Smith-Lemli-Opitz Syndrome*/genetics, Humans ; Cholesterol ; Immunity, Innate

المؤلفون: Miyazaki S; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan; Department of Respiratory Medicine and Infectious Diseases, Oita University Faculty of Medicine, Yufu, Oita, Japan., Shimizu N; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Miyahara H; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Aichi, Japan., Teranishi H; Department of Neurophysiology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Umeda R; Department of Advanced Medical Sciences, Oita University Faculty of Medicine, Yufu, Oita, Japan., Yano S; Institute for Research Management, Oita University, Yufu, Oita, Japan., Shimada T; Oita Medical Technology School, Japan College of Judo-Therapy, Acupuncture & Moxibustion Therapy, Oita, Japan., Shiraishi H; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Komiya K; Department of Respiratory Medicine and Infectious Diseases, Oita University Faculty of Medicine, Yufu, Oita, Japan., Katoh A; Department of Clinical Pharmacology & Therapeutics, Oita University, Yufu, Oita, Japan., Yoshimura A; Department of Microbiology and Immunology, Keio University School of Medicine, Tokyo, Japan., Hanada R; Department of Neurophysiology, Oita University Faculty of Medicine, Yufu, Oita, Japan., Hanada T; Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan. Electronic address: thanada@oita-u.ac.jp.

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Jun 18; Vol. 712-713, pp. 149932. Date of Electronic Publication: 2024 Apr 12.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Axons*/metabolism , Cholesterol*/metabolism , Oxidoreductases Acting on CH-CH Group Donors*/metabolism , Oxidoreductases Acting on CH-CH Group Donors*/genetics , Oxidoreductases Acting on CH-CH Group Donors*/deficiency , Zebrafish*/metabolism , Zebrafish*/genetics, Animals ; Autophagy ; Lysosomes/metabolism ; Neurogenesis ; Neurons/metabolism ; Smith-Lemli-Opitz Syndrome/metabolism ; Smith-Lemli-Opitz Syndrome/genetics ; Smith-Lemli-Opitz Syndrome/pathology ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism

المؤلفون: López-Cañizares A; Bascom Palmer Eye Institute, Miami, Florida., Al-Khersan H; Bascom Palmer Eye Institute, Miami, Florida., Fernandez MP; Bascom Palmer Eye Institute, Miami, Florida., Lin BR; Bascom Palmer Eye Institute, Miami, Florida., Goduni L; Bascom Palmer Eye Institute, Miami, Florida., Berrocal AM; Bascom Palmer Eye Institute, Miami, Florida. Electronic address: ABerrocal@med.miami.edu.

المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2023 Apr; Vol. 27 (2), pp. 100-102. Date of Electronic Publication: 2022 Dec 21.

نوع المنشور: Case Reports; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9710011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-3933 (Electronic) Linking ISSN: 10918531 NLM ISO Abbreviation: J AAPOS Subsets: MEDLINE

مواضيع طبية MeSH: Smith-Lemli-Opitz Syndrome*/diagnosis , Smith-Lemli-Opitz Syndrome*/genetics , Smith-Lemli-Opitz Syndrome*/metabolism , Ophthalmology*, Humans ; Follow-Up Studies ; Cholesterol/metabolism ; Blindness

المؤلفون: Freel BA; Basic Biomedical Sciences, University of South Dakota, Vermillion, SD 57069, USA.; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA., Kelvington BA; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA., Sengupta S; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA., Mukherjee M; Functional Genomics and Bioinformatics Core, Sanford Research, Sioux Falls, SD 57104, USA., Francis KR; Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD 57105, USA.

المصدر: Disease models & mechanisms [Dis Model Mech] 2022 Dec 01; Vol. 15 (12). Date of Electronic Publication: 2022 Dec 16.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

مواضيع طبية MeSH: Smith-Lemli-Opitz Syndrome*/genetics , Smith-Lemli-Opitz Syndrome*/metabolism , Smith-Lemli-Opitz Syndrome*/pathology, Animals ; Mice ; Sterols ; Microglia/pathology ; Cholesterol ; Phenotype

المؤلفون: Tomita H; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Hines KM; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Herron JM; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Li A; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Baggett DW; Department of Medicinal Chemistry, University of Washington, Seattle, United States., Xu L; Department of Medicinal Chemistry, University of Washington, Seattle, United States.

المصدر: ELife [Elife] 2022 Sep 16; Vol. 11. Date of Electronic Publication: 2022 Sep 16.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Oxidoreductases Acting on CH-CH Group Donors*/genetics , Oxysterols*/therapeutic use , Smith-Lemli-Opitz Syndrome*/drug therapy , Smith-Lemli-Opitz Syndrome*/genetics , Smith-Lemli-Opitz Syndrome*/metabolism, Animals ; Antioxidants ; Cholesterol ; Dehydrocholesterols ; Disease Models, Animal ; Humans ; Mice ; Mitogen-Activated Protein Kinase Kinases ; Neurogenesis ; Oxidoreductases ; Receptors, Glucocorticoid ; Receptors, Nerve Growth Factor

المؤلفون: Ballout RA; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA.; Department of Pediatrics, University of Texas Southwestern (UTSW) Medical Center and Children's Health, Dallas, TX, USA., Livinski A; Division of Library Services, National Institutes of Health Library, Office of Research Services, Bethesda, Maryland, USA., Fu YP; Office of Biostatistics Research, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA., Steiner RD; Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA., Remaley AT; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA.

المصدر: The Cochrane database of systematic reviews [Cochrane Database Syst Rev] 2022 Nov 14; Vol. 11. Cochrane AN: CD013521. Date of Electronic Publication: 2022 Nov 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review; Systematic Review

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 100909747 Publication Model: Electronic Cited Medium: Internet ISSN: 1469-493X (Electronic) Linking ISSN: 13616137 NLM ISO Abbreviation: Cochrane Database Syst Rev Subsets: MEDLINE

مواضيع طبية MeSH: Hydroxymethylglutaryl-CoA Reductase Inhibitors*/adverse effects , Smith-Lemli-Opitz Syndrome*/drug therapy, Child ; Female ; Humans ; Male ; Bile Acids and Salts ; Cholesterol ; Vitamins ; Randomized Controlled Trials as Topic ; Cross-Over Studies

المؤلفون: Farkas MH; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY., Skelton LA; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY., Ramachandra-Rao S; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY., Au E; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY., Fliesler SJ; Department of Ophthalmology (Ross Eye Institute), The State University of New York- University at Buffalo, Buffalo, NY.; Department of Biochemistry and the Neuroscience Graduate Program, The State University of New York- University at Buffalo, Buffalo, NY.; Research Service, VA Western New York Healthcare System, Buffalo, NY.

المصدر: Molecular vision [Mol Vis] 2022 Nov 12; Vol. 28, pp. 394-411. Date of Electronic Publication: 2022 Nov 12 (Print Publication: 2022).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Smith-Lemli-Opitz Syndrome*/genetics , Induced Pluripotent Stem Cells*, Humans ; Transcriptome/genetics ; Cholesterol ; Gene Expression Profiling

المؤلفون: Luo Y; Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, P. R. China., Liu Z; Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Victoria, Australia., Zeng Y; Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, P. R. China., Zhang Y; Institutes of Biomedical Sciences, Fudan University, Shanghai, P. R. China., Luan Y; Institute of Forensic Science, Ministry of Public Security, Beijing, P. R. China., Ma L; Department of Neonatology, Shanghai Children's Hospital Shanghai Jiao Tong University, Shanghai, P. R. China., Chen L; Department of Medical Microbiology, Key Laboratory of Medical Molecular Virology of Ministries of Education and Health, School of Basic Medical Sciences, Fudan University, Shanghai, P. R. China., Zou L; Department of Medical Microbiology, Key Laboratory of Medical Molecular Virology of Ministries of Education and Health, School of Basic Medical Sciences, Fudan University, Shanghai, P. R. China., Yang J; Shanghai WeHealth BioMedical Technology Co., Ltd., Shanghai, P. R. China., Huang Z; Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, P. R. China., Rao Y; Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, P. R. China., Zhang C; Department of Neonatology, Obstetrics and Gynecology Hospital Affiliated to Fudan University, Shanghai, P. R. China.

المصدر: Journal of separation science [J Sep Sci] 2022 Mar; Vol. 45 (5), pp. 1080-1093. Date of Electronic Publication: 2022 Jan 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 101088554 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-9314 (Electronic) Linking ISSN: 16159306 NLM ISO Abbreviation: J Sep Sci Subsets: MEDLINE

مواضيع طبية MeSH: Smith-Lemli-Opitz Syndrome*/diagnosis , Smith-Lemli-Opitz Syndrome*/metabolism, Cholesterol ; Dehydrocholesterols/analysis ; Dehydrocholesterols/metabolism ; Gas Chromatography-Mass Spectrometry ; Humans

المؤلفون: Luo Y; Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Zhang C; Department of Neonatology, Obstetrics and Gynecology Hospital Affiliated to Fudan University, Shanghai, PR China., Ma L; Department of Neonatology, Shanghai Children's Hospital Shanghai Jiao Tong University, Shanghai, PR China., Zhang Y; Institutes of Biomedical Sciences, Fudan University, Shanghai, PR China., Liu Z; Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Victoria, Australia., Chen L; Department of Medical Microbiology, Key Laboratory of Medical Molecular Virology of Ministries of Education and Health, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Wang R; College of Forensic Medicine, Kunming Medical University, Kunming, PR China., Luan Y; Institute of Forensic Science, Ministry of Public Security, Beijing, PR China. Electronic address: 18836705@qq.com., Rao Y; Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, PR China. Electronic address: yulan_rao@fudan.edu.cn.

المصدر: Journal of lipid research [J Lipid Res] 2022 Jun; Vol. 63 (6), pp. 100228. Date of Electronic Publication: 2022 May 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Smith-Lemli-Opitz Syndrome*/diagnosis, Biomarkers ; Cholesterol ; Dehydrocholesterols ; Hair ; Humans ; Infant