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Wyszukujesz frazę ""Genetic Diseases, Inborn"" wg kryterium: Temat


Tytuł:
From variant to function in human disease genetics.
Autorzy:
Lappalainen T; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; New York Genome Center, New York, NY, USA.
MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2021 Sep 24; Vol. 373 (6562), pp. 1464-1468. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms:
Genetic Techniques*
Genetic Variation*
Genome, Human*
Genomics*
Disease/*genetics
Genetic Diseases, Inborn/*genetics
Gene Expression Regulation ; Genetic Diseases, Inborn/diagnosis ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Molecular Sequence Annotation ; Multifactorial Inheritance/genetics ; Phenotype ; Quantitative Trait Loci
Czasopismo naukowe
Tytuł:
Mechanisms of viral inflammation and disease in humans.
Autorzy:
Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, Rockefeller University, New York, NY, USA.
Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.
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Źródło:
Science (New York, N.Y.) [Science] 2021 Nov 26; Vol. 374 (6571), pp. 1080-1086. Date of Electronic Publication: 2021 Nov 25.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Genetic Diseases, Inborn/*immunology
Immunity/*genetics
Inflammation/*genetics
Inflammation/*immunology
Virus Diseases/*genetics
Virus Diseases/*immunology
Autoimmunity/genetics ; Genetic Predisposition to Disease ; Humans ; Interferon Type I/immunology
Czasopismo naukowe
Tytuł:
RNA drugs custommade for rare diseases face wider test.
Autorzy:
Kaiser J
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Źródło:
Science (New York, N.Y.) [Science] 2021 Nov 05; Vol. 374 (6568), pp. 672. Date of Electronic Publication: 2021 Nov 04.
Typ publikacji:
Wiadomości
MeSH Terms:
Genetic Diseases, Inborn/*drug therapy
Oligoribonucleotides, Antisense/*therapeutic use
Rare Diseases/*drug therapy
Drug Approval ; Female ; Humans ; Male ; Single-Case Studies as Topic
Periodyk
Tytuł:
Baby steps.
Autorzy:
Kaiser J
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Źródło:
Science (New York, N.Y.) [Science] 2021 Sep 24; Vol. 373 (6562), pp. 1460-1463. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji:
Wiadomości
MeSH Terms:
Genome, Human*
Infant, Newborn*
Whole Genome Sequencing*/ethics
Critical Illness ; Genetic Diseases, Inborn/genetics ; Humans ; Neonatal Screening ; Rare Diseases/genetics ; United Kingdom ; United States
Periodyk
Tytuł:
Preimplantation genetic screens.
Autorzy:
Beaudet AL; Arthur L. Beaudet is a professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, TX. He is also Chief Medical Officer at Baylor Miraca Genetic Laboratories, a for-profit joint venture partially owned by Baylor College of Medicine that offers commercial genetic laboratory testing. .
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Źródło:
Science (New York, N.Y.) [Science] 2015 Sep 25; Vol. 349 (6255), pp. 1423.
Typ publikacji:
Editorial
MeSH Terms:
Genetic Diseases, Inborn/*prevention & control
Genetic Testing/*methods
Preimplantation Diagnosis/*methods
Female ; Fertilization in Vitro ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Humans ; Pregnancy
Opinia redakcyjna
Tytuł:
Narrow path charted for editing genes of human embryos.
Autorzy:
Cohen J
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Źródło:
Science (New York, N.Y.) [Science] 2020 Sep 11; Vol. 369 (6509), pp. 1283.
Typ publikacji:
Wiadomości
MeSH Terms:
CRISPR-Cas Systems*
Embryo Research/*ethics
Gene Editing/*ethics
Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/therapy ; Humans ; Practice Guidelines as Topic ; Reproduction/genetics
Periodyk
Tytuł:
Genomics. Researchers to explore promise, risks of sequencing newborns' DNA.
Autorzy:
Kaiser J
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Źródło:
Science (New York, N.Y.) [Science] 2013 Sep 13; Vol. 341 (6151), pp. 1163.
Typ publikacji:
Wiadomości
MeSH Terms:
Government Programs*
Genetic Diseases, Inborn/*diagnosis
Genetic Testing/*ethics
Genomics/*ethics
Sequence Analysis, DNA/*ethics
Genes ; Genetic Diseases, Inborn/genetics ; Genetic Testing/economics ; Genome, Human ; Genomics/economics ; Humans ; Infant, Newborn ; Sequence Analysis, DNA/economics
Periodyk
Tytuł:
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Autorzy:
Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Hughey JJ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Hebbring S; Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, USA.
Marlo J; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Zhao W; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Ho WT; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Van Driest SL; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
McGregor TL; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Mosley JD; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Wells QS; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
Temple M; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Ramirez AH; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Carroll R; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Osterman T; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Edwards T; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Ruderfer D; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Velez Edwards DR; Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.
Hamid R; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Cogan J; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Glazer A; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Wei WQ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Feng Q; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
Brilliant M; Center for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, USA.
Zhao ZJ; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Cox NJ; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Roden DM; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.
Denny JC; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA. .; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2018 Mar 16; Vol. 359 (6381), pp. 1233-1239.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*genetics
DNA Mutational Analysis ; Databases, Genetic ; Electronic Health Records ; Exome ; Genetic Association Studies ; Genetic Variation ; Humans ; Phenotype ; Risk Factors
Czasopismo naukowe
Tytuł:
Global voices of science. When science is not enough: fighting genetic disease in Brazil.
Autorzy:
Zatz M; Biosciences Institute, University of São Paulo, Rua do Matão 277, sala 211, São Paulo 05508-090, Brazil.
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Źródło:
Science (New York, N.Y.) [Science] 2005 Apr 01; Vol. 308 (5718), pp. 55-7.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Diseases, Inborn*/diagnosis
Muscular Dystrophy, Duchenne*/diagnosis
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/therapy
Abortion, Induced ; Brazil ; Child ; Embryo Research ; Genetic Counseling ; Genetic Testing/ethics ; Humans ; Prenatal Diagnosis/ethics ; Quality of Life ; Stem Cells ; Voluntary Health Agencies
Czasopismo naukowe
Tytuł:
Deriving genomic diagnoses without revealing patient genomes.
Autorzy:
Jagadeesh KA; Department of Computer Science, Stanford University, Stanford, CA 94305, USA.
Wu DJ; Department of Computer Science, Stanford University, Stanford, CA 94305, USA.
Birgmeier JA; Department of Computer Science, Stanford University, Stanford, CA 94305, USA.
Boneh D; Department of Computer Science, Stanford University, Stanford, CA 94305, USA. .; Department of Electrical Engineering, Stanford University, Stanford, CA 94305, USA.
Bejerano G; Department of Computer Science, Stanford University, Stanford, CA 94305, USA. .; Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA.; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2017 Aug 18; Vol. 357 (6352), pp. 692-695.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Privacy*
Genome, Human*
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*genetics
Genomics/*methods
Humans ; Precision Medicine
Czasopismo naukowe
Tytuł:
Genomics and medicine. Dissecting human disease in the postgenomic era.
Autorzy:
Peltonen L; Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, CA 90095-7088, USA. />McKusick VA
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Źródło:
Science (New York, N.Y.) [Science] 2001 Feb 16; Vol. 291 (5507), pp. 1224-9.
Typ publikacji:
Journal Article
MeSH Terms:
Disease*
Genetic Diseases, Inborn*
Genetics, Medical*
Genome, Human*
Genomics*
Animals ; Computational Biology ; Delivery of Health Care ; Environment ; Gene Expression Profiling ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genome ; Human Genome Project ; Humans ; Metabolic Diseases/genetics ; Multifactorial Inheritance ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide ; Quantitative Trait, Heritable ; Risk Factors
Czasopismo naukowe
Tytuł:
Gene therapy comes of age.
Autorzy:
Dunbar CE; Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, MD, USA. .
High KA; Spark Therapeutics, Philadelphia, PA, USA.
Joung JK; Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Kohn DB; David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Ozawa K; The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Sadelain M; Memorial Sloan Kettering Cancer Center, New York, NY, USA. .
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Źródło:
Science (New York, N.Y.) [Science] 2018 Jan 12; Vol. 359 (6372).
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Therapy*/adverse effects
Animals ; Gene Editing ; Gene Transfer Techniques ; Genetic Diseases, Inborn/therapy ; Genetic Engineering ; Genetic Vectors ; Hematologic Diseases/therapy ; Humans ; Neoplasms/therapy ; Neuromuscular Diseases/therapy ; Translational Research, Biomedical
Czasopismo naukowe
Tytuł:
A structural scaffolding of intermediate filaments in health and disease.
Autorzy:
Fuchs E; Howard Hughes Medical Institute and Department of Molecular Genetics and Cell Biology, University of Chicago, Chicago, IL 60637, USA.
Cleveland DW
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Źródło:
Science (New York, N.Y.) [Science] 1998 Jan 23; Vol. 279 (5350), pp. 514-9.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Disease*
Cytoskeletal Proteins/*metabolism
Genetic Diseases, Inborn/*etiology
Intermediate Filament Proteins/*metabolism
Intermediate Filaments/*physiology
Animals ; Axons/physiology ; Axons/ultrastructure ; Cytoplasm/physiology ; Cytoplasm/ultrastructure ; Genetic Diseases, Inborn/pathology ; Humans ; Intermediate Filaments/ultrastructure ; Keratinocytes/physiology ; Keratinocytes/ultrastructure ; Keratins/genetics ; Keratins/physiology ; Microtubules/metabolism ; Microtubules/ultrastructure ; Mutation ; Neurons/physiology ; Neurons/ultrastructure
Czasopismo naukowe
Tytuł:
Genetic discrimination: perspectives of consumers.
Autorzy:
Lapham EV; Georgetown University Child Development Center, 3307 M Street, NW, Washington, DC, 20007-3935. />Kozma C
Weiss JO
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Źródło:
Science (New York, N.Y.) [Science] 1996 Oct 25; Vol. 274 (5287), pp. 621-4.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Disclosure*
Employment*
Genetic Diseases, Inborn*
Genetic Privacy*
Insurance Selection Bias*
Insurance, Health*
Insurance, Life*
Prejudice*
Adult ; Aged ; Bioethics ; Confidentiality ; Female ; Genetic Testing ; Human Genome Project ; Humans ; Insurance Coverage ; Male ; Medically Uninsured ; Middle Aged ; Self-Help Groups ; Surveys and Questionnaires ; United States
Czasopismo naukowe

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