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1تقرير
المؤلفون: Bonnot Ruget M; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France., Moulin P; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France.; 26900 Fédération d'endocrinologie, maladies métaboliques, diabète et nutrition, GHE, Hospices Civils de Lyon , Bron Cedex, France., Pagan C; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France., Cheillan D; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France., Marmontel O; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France., Raverot G; Lyon 1 University, Villeurbanne, France.; Endocrinology Department, 26900 Reference Center for Rare Pituitary Diseases HYPO, 'Groupement Hospitalier Est' Hospices Civils de Lyon , Bron, France.; Inserm U1052, CNRS UMR5286, Cancer Research Center of Lyon, Lyon, France., Benlian P; Univ. Lille, INSERM, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 1283 - EGID, Lille, France., Di Filippo M; 26900 Service de Biochimie et Biologie moléculaire, Laboratoire de Biologie Médicale Multi-sites, Hospices Civils de Lyon , Lyon Cedex, France.; CarMen Laboratory, INSERM, INRA, INSA Lyon, Université Claude Bernard Lyon 1, Pierre-Bénite, France.
المصدر: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2024 Apr 08; Vol. 62 (9), pp. e200-e202. Date of Electronic Publication: 2024 Apr 08 (Print Publication: 2024).
نوع المنشور: Letter; Case Reports
بيانات الدورية: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1437-4331 (Electronic) Linking ISSN: 14346621 NLM ISO Abbreviation: Clin Chem Lab Med Subsets: MEDLINE
مواضيع طبية MeSH: Smith-Lemli-Opitz Syndrome*/genetics , Smith-Lemli-Opitz Syndrome*/diagnosis , Mutation* , Oxidoreductases Acting on CH-CH Group Donors*/genetics, Humans ; Alleles ; Male ; Female
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2دورية أكاديمية
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
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3دورية أكاديمية
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
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4تقرير
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
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5دورية أكاديمية
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
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6دورية أكاديمية
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
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7دورية أكاديمية
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
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8دورية أكاديمية
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
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9دورية أكاديمية
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
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10دورية أكاديمية
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