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


Tytuł :
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
Autorzy :
Garg P; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Jadhav B; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Rodriguez OL; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Patel N; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Martin-Trujillo A; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA.
Jain M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA 95064, USA.
Metsu S; Department of Medical Genetics, University of Antwerp, 2000 Antwerp, Belgium.
Olsen H; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA 95064, USA.
Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA 95064, USA.
Ritz B; Department of Epidemiology, Fielding School of Public Health, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Kooy RF; Department of Medical Genetics, University of Antwerp, 2000 Antwerp, Belgium.
Gecz J; Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; Women and Kids, South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5006, Australia.
Sharp AJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY 10029, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 654-669. Date of Electronic Publication: 2020 Sep 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Epigenesis, Genetic*
Genome, Human*
Trinucleotide Repeat Expansion*
BRCA1 Protein/*genetics
Genetic Diseases, Inborn/*genetics
Receptors, LDL/*genetics
BRCA1 Protein/metabolism ; DNA Methylation ; Female ; Folic Acid/metabolism ; Gene Silencing ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/pathology ; Genetic Loci ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Promoter Regions, Genetic ; Receptors, LDL/metabolism ; Twins, Monozygotic
Czasopismo naukowe
Tytuł :
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality.
Autorzy :
Meisner A; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Kundu P; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Zhang YD; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA; Department of Statistics, University of Hong Kong, 999077, Hong Kong.
Lan LV; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Kim S; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Ghandwani D; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA; Indian Statistical Institute, Kolkata, West Bengal 700108, India.
Pal Choudhury P; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Berndt SI; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Freedman ND; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Garcia-Closas M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Chatterjee N; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 418-431. Date of Electronic Publication: 2020 Aug 05.
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/*mortality
Multifactorial Inheritance/*genetics
Risk Assessment/*statistics & numerical data
Biological Specimen Banks ; Female ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/pathology ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Proportional Hazards Models ; Risk Factors ; United Kingdom
Czasopismo naukowe
Tytuł :
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases.
Autorzy :
Buljan M; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland; Empa, Swiss Federal Laboratories for Materials Science and Technology, 9014 St. Gallen, Switzerland.
Ciuffa R; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland.
van Drogen A; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland.
Vichalkovski A; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland.
Mehnert M; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland.
Rosenberger G; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland; Columbia University Department of Systems Biology, New York, NY 10032, USA.
Lee S; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland.
Varjosalo M; Institute of Biotechnology, University of Helsinki, Helsinki 00014, Finland.
Pernas LE; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland.
Spegg V; Department of Molecular Mechanisms of Disease, University of Zurich, 8057 Zurich, Switzerland.
Snijder B; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland.
Aebersold R; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland; Faculty of Science, University of Zurich, Zurich, Switzerland. Electronic address: .
Gstaiger M; Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland. Electronic address: .
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Źródło :
Molecular cell [Mol Cell] 2020 Aug 06; Vol. 79 (3), pp. 504-520.e9. Date of Electronic Publication: 2020 Jul 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Regulatory Networks*
Genetic Diseases, Inborn/*genetics
Neoplasms/*genetics
Protein Kinases/*genetics
Protein-Serine-Threonine Kinases/*genetics
Proto-Oncogene Proteins/*genetics
Computational Biology/methods ; Datasets as Topic ; Gene Expression Regulation ; Gene Ontology ; Genetic Diseases, Inborn/enzymology ; Genetic Diseases, Inborn/pathology ; Humans ; Metabolic Networks and Pathways/genetics ; Molecular Sequence Annotation ; Muscular Dystrophies/enzymology ; Muscular Dystrophies/genetics ; Muscular Dystrophies/pathology ; Neoplasms/enzymology ; Neoplasms/pathology ; Neurodegenerative Diseases/enzymology ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/pathology ; Protein Interaction Mapping/methods ; Protein Kinases/chemistry ; Protein Kinases/classification ; Protein Kinases/metabolism ; Protein-Serine-Threonine Kinases/chemistry ; Protein-Serine-Threonine Kinases/metabolism ; Proto-Oncogene Proteins/chemistry ; Proto-Oncogene Proteins/metabolism ; Signal Transduction
Czasopismo naukowe
Tytuł :
Atypical presentation of congenital thrombotic thrombocytopenic purpura with large and small vessel disease: A case report.
Autorzy :
Zharnest D; Robert Wood Johnson School of Medicine, New Brunswick, New Jersey.
Drachtman R; Robert Wood Johnson School of Medicine, New Brunswick, New Jersey.; Rutgers Cancer Institute of New Jersey, Brunswick, New Jersey.
Murphy S; Robert Wood Johnson School of Medicine, New Brunswick, New Jersey.; Rutgers Cancer Institute of New Jersey, Brunswick, New Jersey.
Masterson M; Robert Wood Johnson School of Medicine, New Brunswick, New Jersey.; Rutgers Cancer Institute of New Jersey, Brunswick, New Jersey.
Bhise V; Robert Wood Johnson School of Medicine, New Brunswick, New Jersey.
Moerdler S; Robert Wood Johnson School of Medicine, New Brunswick, New Jersey.; Rutgers Cancer Institute of New Jersey, Brunswick, New Jersey.
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Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2020 Aug; Vol. 67 (8), pp. e28316. Date of Electronic Publication: 2020 May 30.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Genetic Diseases, Inborn*/diagnostic imaging
Genetic Diseases, Inborn*/drug therapy
Genetic Diseases, Inborn*/genetics
Purpura, Thrombotic Thrombocytopenic*/diagnostic imaging
Purpura, Thrombotic Thrombocytopenic*/drug therapy
Purpura, Thrombotic Thrombocytopenic*/genetics
Vascular Diseases*/diagnostic imaging
Vascular Diseases*/drug therapy
Vascular Diseases*/genetics
Adolescent ; Female ; Humans
Raport
Tytuł :
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
Autorzy :
Chennen K; Complex Systems and Translational Bioinformatics (CSTB), ICube laboratory - CNRS, Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, University of Strasbourg, Illkirch, France.
Weber T; Complex Systems and Translational Bioinformatics (CSTB), ICube laboratory - CNRS, Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, University of Strasbourg, Illkirch, France.
Kress A; Complex Systems and Translational Bioinformatics (CSTB), ICube laboratory - CNRS, Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
Böhm J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, University of Strasbourg, Illkirch, France.
Thompson J; Complex Systems and Translational Bioinformatics (CSTB), ICube laboratory - CNRS, Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, University of Strasbourg, Illkirch, France.
Poch O; Complex Systems and Translational Bioinformatics (CSTB), ICube laboratory - CNRS, Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
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Źródło :
PloS one [PLoS One] 2020 Jul 31; Vol. 15 (7), pp. e0236962. Date of Electronic Publication: 2020 Jul 31 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Diseases, Inborn*/diagnosis
Genetic Diseases, Inborn*/genetics
Mutation, Missense*
Software*
Whole Exome Sequencing/*methods
Computational Biology ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Machine Learning
Czasopismo naukowe
Tytuł :
Management of Secondary Genomic Findings.
Autorzy :
Katz AE; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address: .
Nussbaum RL; Invitae Corporation, San Francisco, CA 94103, USA; Volunteer Clinical Faculty, University of California, San Francisco, San Francisco, CA 94143, USA.
Solomon BD; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Rehm HL; Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Pathology, Harvard Medical School, Boston, MA 02114, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02142, USA.
Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 3-14.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms :
Genetic Diseases, Inborn/*genetics
Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/prevention & control ; Genomics/methods ; Humans ; Medical History Taking
Czasopismo naukowe
Tytuł :
The current and future impact of genome-wide sequencing on fetal precision medicine.
Autorzy :
Sabbagh R; Department of Obstetrics and Gynecology, Baylor College of Medicine, 1250 Moursund Street, Room 1025.14, Houston, TX, 77030, USA.; Pavilion for Women, Texas Children's Hospital, Houston, TX, USA.
Van den Veyver IB; Department of Obstetrics and Gynecology, Baylor College of Medicine, 1250 Moursund Street, Room 1025.14, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. .; Pavilion for Women, Texas Children's Hospital, Houston, TX, USA. .; Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. .
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Źródło :
Human genetics [Hum Genet] 2020 Sep; Vol. 139 (9), pp. 1121-1130. Date of Electronic Publication: 2019 Nov 21.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Amniocentesis/*methods
Chorionic Villi Sampling/*methods
Genetic Diseases, Inborn/*diagnosis
Genetic Testing/*methods
Precision Medicine/*methods
Female ; Fetus/cytology ; Genetic Diseases, Inborn/genetics ; Genome/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Pregnancy ; Prenatal Care/methods ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Expanded carrier screening: counseling and considerations.
Autorzy :
Sparks TN; Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, 550 16th St, Box 0132, San Francisco, CA, 94143, USA. .
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Źródło :
Human genetics [Hum Genet] 2020 Sep; Vol. 139 (9), pp. 1131-1139. Date of Electronic Publication: 2019 Nov 02.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Carrier Screening/*methods
Genetic Counseling/*methods
Genetic Diseases, Inborn/*diagnosis
Ethnic Groups/genetics ; Female ; Genetic Diseases, Inborn/genetics ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
Noninvasive prenatal testing: from aneuploidy to single genes.
Autorzy :
Guseh SH; Division of Maternal-Fetal Medicine, Obstetrics and Gynecology, Harvard Medical School, Brigham and Women's Hospital, 75 Francis St, Boston, MA, USA. .
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Źródło :
Human genetics [Hum Genet] 2020 Sep; Vol. 139 (9), pp. 1141-1148. Date of Electronic Publication: 2019 Sep 25.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Aneuploidy*
Cell-Free Nucleic Acids/*blood
Genetic Diseases, Inborn/*diagnosis
Noninvasive Prenatal Testing/*methods
Prenatal Diagnosis/*methods
Cell-Free Nucleic Acids/genetics ; DNA/genetics ; False Negative Reactions ; False Positive Reactions ; Female ; Genetic Diseases, Inborn/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
Costly Genes.
Autorzy :
Karayiorgou M; Columbia University, Department of Psychiatry, New York, New York, United States of America.
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Źródło :
PLoS genetics [PLoS Genet] 2020 Aug 20; Vol. 16 (8), pp. e1008889. Date of Electronic Publication: 2020 Aug 20 (Print Publication: 2020).
Typ publikacji :
Journal Article
MeSH Terms :
Drug Development/*economics
Drug Industry/*economics
Genetic Diseases, Inborn/*economics
Drug Development/trends ; Drug Industry/trends ; Drugs, Generic/economics ; Drugs, Generic/therapeutic use ; Genetic Diseases, Inborn/drug therapy ; Humans
Czasopismo naukowe
Tytuł :
Bringing monogenic disease screening to the clinic.
Autorzy :
Murray MF; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. .
Giovanni MA; Yale-New Haven Health System, New Haven, CT, USA. .
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Źródło :
Nature medicine [Nat Med] 2020 Aug; Vol. 26 (8), pp. 1172-1174.
Typ publikacji :
Journal Article
MeSH Terms :
DNA/*genetics
Genetic Diseases, Inborn/*genetics
Genetic Testing/*trends
DNA/isolation & purification ; Genetic Diseases, Inborn/diagnosis ; Humans ; Mutation/genetics ; Risk Factors
Czasopismo naukowe
Tytuł :
The delivery challenge: fulfilling the promise of therapeutic genome editing.
Autorzy :
van Haasteren J; California Institute for Quantitative Biosciences (QB3), University of California, Berkeley, CA, USA.
Li J; Department of Bioengineering, University of California, Berkeley, CA, USA.; Innovative Genomics Institute (IGI), University of California, Berkeley, CA, USA.
Scheideler OJ; Department of Bioengineering, University of California, Berkeley, CA, USA.
Murthy N; California Institute for Quantitative Biosciences (QB3), University of California, Berkeley, CA, USA. .; Department of Bioengineering, University of California, Berkeley, CA, USA. .; Innovative Genomics Institute (IGI), University of California, Berkeley, CA, USA. .
Schaffer DV; California Institute for Quantitative Biosciences (QB3), University of California, Berkeley, CA, USA. .; Department of Bioengineering, University of California, Berkeley, CA, USA. .; Innovative Genomics Institute (IGI), University of California, Berkeley, CA, USA. .; Department of Chemical and Biomolecular Engineering, University of California, Berkeley, CA, USA. .; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA. .; Helen Wills Neuroscience Institute, University of California, Berkeley, CA, USA. .
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Źródło :
Nature biotechnology [Nat Biotechnol] 2020 Jul; Vol. 38 (7), pp. 845-855. Date of Electronic Publication: 2020 Jun 29.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Therapy*
CRISPR-Cas Systems/*genetics
Gene Editing/*trends
Genetic Diseases, Inborn/*therapy
Genetic Diseases, Inborn/genetics ; Genetic Vectors/genetics ; Genetic Vectors/therapeutic use ; Humans ; Nanoparticles/therapeutic use ; Protein Engineering
Czasopismo naukowe
Tytuł :
The duality of human oncoproteins: drivers of cancer and congenital disorders.
Autorzy :
Castel P; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA. .
Rauen KA; MIND Institute, Department of Pediatrics, University of California, Davis, Sacramento, CA, USA.
McCormick F; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA.
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Źródło :
Nature reviews. Cancer [Nat Rev Cancer] 2020 Jul; Vol. 20 (7), pp. 383-397. Date of Electronic Publication: 2020 Apr 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Cell Transformation, Neoplastic/*metabolism
Congenital Abnormalities/*genetics
Genetic Diseases, Inborn/*genetics
Neoplasms/*genetics
Neoplasms/*metabolism
Proto-Oncogene Proteins/*metabolism
Animals ; Cell Transformation, Neoplastic/genetics ; Congenital Abnormalities/metabolism ; Disease Models, Animal ; Gene-Environment Interaction ; Genetic Diseases, Inborn/metabolism ; Humans ; Mice ; Mutation/genetics ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins/physiology ; Signal Transduction
Czasopismo naukowe
Tytuł :
Human inborn errors of immunity underlying superficial or invasive candidiasis.
Autorzy :
Puel A; Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Necker Branch, 75015, Paris, France. .; Imagine Institute, Paris University, 75015, Paris, France. .; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, Rockefeller Branch, New York, NY, 10065, USA. .
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Źródło :
Human genetics [Hum Genet] 2020 Jun; Vol. 139 (6-7), pp. 1011-1022. Date of Electronic Publication: 2020 Mar 02.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Heterogeneity*
Genetic Predisposition to Disease*
Candida/*immunology
Candidiasis, Invasive/*genetics
Genetic Diseases, Inborn/*genetics
Host-Pathogen Interactions/*genetics
Host-Pathogen Interactions/*immunology
Candida/genetics ; Candida/pathogenicity ; Candidiasis, Invasive/immunology ; Candidiasis, Invasive/microbiology ; Genetic Diseases, Inborn/immunology ; Genetic Diseases, Inborn/microbiology ; Humans
Czasopismo naukowe
Tytuł :
Mendelian susceptibility to mycobacterial disease: recent discoveries.
Autorzy :
Bustamante J; Imagine Institute, Paris University, Paris, France. .; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France. .; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France. .
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Źródło :
Human genetics [Hum Genet] 2020 Jun; Vol. 139 (6-7), pp. 993-1000. Date of Electronic Publication: 2020 Feb 05.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Heterogeneity*
Genetic Predisposition to Disease*
Genetic Diseases, Inborn/*genetics
Host-Pathogen Interactions/*genetics
Host-Pathogen Interactions/*immunology
Mycobacterium/*immunology
Mycobacterium Infections/*genetics
Genetic Diseases, Inborn/immunology ; Genetic Diseases, Inborn/microbiology ; Humans ; Interferon-gamma/genetics ; Mycobacterium/genetics ; Mycobacterium/pathogenicity ; Mycobacterium Infections/immunology ; Mycobacterium Infections/microbiology
Czasopismo naukowe
Tytuł :
Preimplantation genetic testing for a monogenic disorder can prevent live births affected by fetal and neonatal alloimmune thrombocytopenia.
Autorzy :
Shaw J; Department of Obstetrics and Gynecology, New York University Langone Fertility Center, New York, New York.
Blakemore JK; Department of Obstetrics and Gynecology, New York University Langone Fertility Center, New York, New York.
Moomjy M; Department of Obstetrics and Gynecology, New York University Langone Fertility Center, New York, New York.
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Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2020 Jun; Vol. 67 (6), pp. e28239. Date of Electronic Publication: 2020 Apr 14.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Genetic Diseases, Inborn/*diagnosis
Genetic Testing/*methods
Prenatal Diagnosis/*methods
Thrombocytopenia, Neonatal Alloimmune/*diagnosis
Thrombocytopenia, Neonatal Alloimmune/*prevention & control
Adult ; Female ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/prevention & control ; Humans ; Male ; Pregnancy ; Prognosis ; Thrombocytopenia, Neonatal Alloimmune/genetics
Raport
Tytuł :
The monogenic basis of human tuberculosis.
Autorzy :
Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. .; Paris Descartes University, Imagine Institute, Paris, France. .; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, New York, USA. .
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Źródło :
Human genetics [Hum Genet] 2020 Jun; Vol. 139 (6-7), pp. 1001-1009. Date of Electronic Publication: 2020 Feb 13.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Heterogeneity*
Genetic Predisposition to Disease*
Genetic Diseases, Inborn/*genetics
Interferon-gamma/*immunology
Mycobacterium tuberculosis/*genetics
Mycobacterium tuberculosis/*immunology
Tuberculosis/*genetics
Genetic Diseases, Inborn/immunology ; Genetic Diseases, Inborn/microbiology ; Homozygote ; Humans ; Receptors, Interleukin-12/genetics ; Receptors, Interleukin-12/immunology ; TYK2 Kinase/genetics ; TYK2 Kinase/immunology ; Tuberculosis/immunology ; Tuberculosis/microbiology ; Tuberculosis/pathology
Czasopismo naukowe
Tytuł :
[Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure].
Autorzy :
Aoki R; Department of Neurology, Dokkyo Medical University.
Kokubun N; Department of Neurology, Dokkyo Medical University.
Komagamine T; Department of Neurology, Dokkyo Medical University.
Ishii Y; Department of Neurology, Dokkyo Medical University.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP).
Hirata K; Department of Neurology, Dokkyo Medical University.
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Źródło :
Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2020 May 26; Vol. 60 (5), pp. 334-339. Date of Electronic Publication: 2020 Apr 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Connectin/*genetics
Genetic Diseases, Inborn/*genetics
Genetic Diseases, Inborn/*pathology
Muscle, Skeletal/*pathology
Muscular Diseases/*genetics
Muscular Diseases/*pathology
Respiratory Insufficiency/*genetics
Respiratory Insufficiency/*pathology
Adult ; Aged ; Atrophy ; Diagnosis, Differential ; Female ; Genetic Diseases, Inborn/diagnostic imaging ; Humans ; Male ; Muscle, Skeletal/diagnostic imaging ; Muscular Diseases/diagnostic imaging ; Respiratory Insufficiency/diagnostic imaging ; Severity of Illness Index ; Tomography, X-Ray Computed
SCR Disease Name :
Hereditary Myopathy with Early Respiratory Failure
Czasopismo naukowe
Tytuł :
Developmental Support for Infants With Genetic Disorders.
Autorzy :
Wojcik MH; Divisions of Newborn Medicine and .; Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts; and.
Stewart JE; Divisions of Newborn Medicine and.; Department of Neonatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Waisbren SE; Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts; and.
Litt JS; Divisions of Newborn Medicine and.; Department of Neonatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
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Źródło :
Pediatrics [Pediatrics] 2020 May; Vol. 145 (5).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms :
Developmental Disabilities/*psychology
Developmental Disabilities/*therapy
Genetic Diseases, Inborn/*psychology
Genetic Diseases, Inborn/*therapy
Developmental Disabilities/diagnosis ; Early Intervention, Educational/methods ; Genetic Diseases, Inborn/diagnosis ; Humans ; Infant, Newborn ; Infant, Premature/physiology ; Infant, Premature, Diseases/diagnosis ; Infant, Premature, Diseases/psychology ; Infant, Premature, Diseases/therapy
Czasopismo naukowe
Tytuł :
Phenogenon: Gene to phenotype associations for rare genetic diseases.
Autorzy :
Pontikos N; UCL Genetics Institute, University College London, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.
Murphy C; UCL Genetics Institute, University College London, London, United Kingdom.; Warwick Medical School, University of Warwick, Coventry, United Kingdom.
Moghul I; UCL Cancer Institute, University College London, London, United Kingdom.
Arno G; Institute of Ophthalmology, University College London, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Fujinami K; Institute of Ophthalmology, University College London, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Fujinami Y; Graduate School of Health Management, Keio University, Tokyo, Japan.; Division of Public Health, Yokokawa Clinic, Osaka, Japan.
Sumodhee D; Queen Mary University, Mile End Road, Bethnal Green, London, United Kingdom.
Downes S; Oxford Eye Hospital, West Wing, John Radcliffe Hospital, Oxford, United Kingdom.; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.
Webster A; Institute of Ophthalmology, University College London, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.
Yu J; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.
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Corporate Authors :
UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium
Źródło :
PloS one [PLoS One] 2020 Apr 09; Vol. 15 (4), pp. e0230587. Date of Electronic Publication: 2020 Apr 09 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*/methods
Genetic Association Studies*/statistics & numerical data
Genetic Diseases, Inborn*/epidemiology
Genetic Diseases, Inborn*/genetics
High-Throughput Nucleotide Sequencing*/methods
High-Throughput Nucleotide Sequencing*/statistics & numerical data
Rare Diseases*/epidemiology
Rare Diseases*/genetics
Computational Biology/*methods
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics ; Cohort Studies ; DNA-Binding Proteins/genetics ; Databases, Genetic ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Membrane Proteins/genetics ; Monomeric GTP-Binding Proteins/genetics ; Nail Diseases/epidemiology ; Nail Diseases/genetics ; Phenotype ; Retinal Dystrophies/epidemiology ; Retinal Dystrophies/genetics ; Skin Diseases/epidemiology ; Skin Diseases/genetics ; Transcription Factors/genetics ; Whole Exome Sequencing
Czasopismo naukowe

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