المؤلفون: Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Duque Lasio ML; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Magistrati M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy., Pathak S; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA., Sample B; HSHS St. Vincent Hospital, Green Bay, WI, USA., Carvalho DR; SARAH Network Rehabilitation Hospitals, Genetic Unit, Brasilia, Federal District, Brazil., Ortega AB; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Castro MAA; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., de Gusmao CM; Mendelics Genomic Analyses, Sao Paulo, Brazil; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil., Toler TL; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Bellacchio E; Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy. Electronic address: cristina.dallabona@unipr.it., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Aug; Vol. 139 (4), pp. 107630. Date of Electronic Publication: 2023 Jun 22.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Diseases*/metabolism , Ubiquinone*/metabolism, Humans ; Infant, Newborn ; Mitochondria/metabolism

SCR Disease Name: Coenzyme Q10 Deficiency

المؤلفون: Cho MK; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA; Departments of Medicine and Pediatrics, Stanford University, Stanford, CA. Electronic address: micho@stanford.edu., Duque Lasio ML; Division of Genetics & Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO; Division of Laboratory and Genomic Medicine, Department of Pathology & Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Amarillo I; Department of Pathology and Laboratory Medicine, Penn State College of Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, PA., Mintz KT; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA., Bennett RL; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA., Brothers KB; Norton Children's Research Institute Affiliated with the University of Louisville, Louisville, KY.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Mar; Vol. 25 (3), pp. 100343. Date of Electronic Publication: 2022 Dec 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Research* , Publishing*, Humans ; Delivery of Health Care ; Gender Identity ; Human Genetics

المؤلفون: Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Cuillerier A; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Chakraborty P; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, Ottawa, ON, Canada., Naas T; Newborn Screening Ontario, Ottawa, ON, Canada., Duque Lasio ML; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Michaud J; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada., Pileggi C; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Harper ME; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Burelle Y; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.; Interdisciplinary School of Health Sciences, Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada., Toler TL; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology Program, Sick Kids Research Institute, Toronto, ON, Canada.; Departments of Pediatrics and Molecular Genetics, University of Toronto, Toronto, ON, Canada., Crawford HP; Innovative Genetics Care, The Woodlands, TX, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Geraghty MT; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Nov; Vol. 29 (11), pp. 1719-1724. Date of Electronic Publication: 2021 Sep 06.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Diseases/*genetics , Mitochondrial Proton-Translocating ATPases/*metabolism, Catalytic Domain ; Cells, Cultured ; Child, Preschool ; Female ; Fibroblasts/metabolism ; Humans ; Infant ; Male ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mitochondrial Proton-Translocating ATPases/chemistry ; Mitochondrial Proton-Translocating ATPases/genetics ; Mutation ; Phenotype

المؤلفون: Kulkarni S; Division of Pediatric Gastroenterology Hepatology and Nutrition, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri., Abro B; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri., Duque Lasio ML; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri., Stoll J; Division of Pediatric Gastroenterology Hepatology and Nutrition, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri., He M; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

المصدر: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2020 May-Jun; Vol. 23 (3), pp. 235-239. Date of Electronic Publication: 2019 Oct 21.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-5742 (Electronic) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Nuclear Proteins/*genetics, Female ; Humans ; Infant, Newborn ; Kidney Diseases, Cystic/genetics ; Mutation

SCR Disease Name: Nephronophthisis 2

المؤلفون: Duque Lasio ML; Washington University School of Medicine, Department of Pediatrics, St. Louis, MO, USA., Kozel BA; National Institutes of Health, National Heart Lung and Blood Institute, Bethesda, MD, USA. Electronic address: Beth.Kozel@nih.gov.

المصدر: Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2018 Oct; Vol. 71-72, pp. 144-160. Date of Electronic Publication: 2018 Feb 28.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9432592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-1802 (Electronic) Linking ISSN: 0945053X NLM ISO Abbreviation: Matrix Biol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Elastin/*genetics , Elastin/*metabolism, Aortic Stenosis, Supravalvular/genetics ; Cutis Laxa/genetics ; Gene Dosage ; Genetic Predisposition to Disease ; Humans ; Williams Syndrome/genetics

SCR Disease Name: Cutis Laxa, Autosomal Dominant