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Tytuł :
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Autorzy :
Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Cinquina V; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Giacopuzzi E; Genetics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Venturini M; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, 25123 Brescia, Italy.
Chiarelli N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. .
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Źródło :
Genes [Genes (Basel)] 2019 Aug 21; Vol. 10 (9). Date of Electronic Publication: 2019 Aug 21.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
MeSH Terms :
Mutation*
Phenotype*
Antley-Bixler Syndrome Phenotype/*genetics
Arachnodactyly/*genetics
Bone Diseases/*congenital
Craniosynostoses/*genetics
Dwarfism/*genetics
Glucuronosyltransferase/*genetics
Marfan Syndrome/*genetics
Osteochondrodysplasias/*genetics
Skin Diseases, Genetic/*genetics
Adolescent ; Antley-Bixler Syndrome Phenotype/pathology ; Arachnodactyly/pathology ; Bone Diseases/genetics ; Bone Diseases/pathology ; Craniosynostoses/pathology ; Dwarfism/pathology ; Female ; Humans ; Marfan Syndrome/pathology ; Osteochondrodysplasias/pathology ; Skin Diseases, Genetic/pathology
SCR Disease Name :
Gerodermia osteodysplastica; Larsen Syndrome; Shprintzen Golberg craniosynostosis
Czasopismo naukowe
Tytuł :
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Autorzy :
Fan L; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.
Ren X; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.
Song Y; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.
Su C; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China.
Fu J; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, 310051, China.
Gong C; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China. .; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing, 100045, China. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Dec 30; Vol. 14 (1), pp. 299. Date of Electronic Publication: 2019 Dec 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
MeSH Terms :
Adrenal Hyperplasia, Congenital/*genetics
Adrenal Hyperplasia, Congenital/*pathology
Antley-Bixler Syndrome Phenotype/*genetics
Antley-Bixler Syndrome Phenotype/*pathology
Cytochrome P-450 Enzyme System/*deficiency
Adolescent ; Adrenal Hyperplasia, Congenital/enzymology ; Antley-Bixler Syndrome Phenotype/enzymology ; Asian Continental Ancestry Group ; Child ; Child, Preschool ; Cohort Studies ; Cytochrome P-450 Enzyme System/genetics ; Cytochrome P-450 Enzyme System/metabolism ; Female ; Genotype ; Humans ; Infant ; Male ; Phenotype
SCR Disease Name :
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Czasopismo naukowe
Tytuł :
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Autorzy :
Boonsimma P; Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
Michael Gasser M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig Maximilians University of Munich, Germany.
Netbaramee W; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Wechapinan T; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Queen Sirikit National Institute of Child Health, Bangkok 10400, Thailand.
Srichomthong C; Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
Ittiwut C; Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
Wagner M; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Krenn M; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Zimprich F; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Abicht A; Medical Genetic Center Munich, Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany.
Biskup S; Praxis für Humangenetik und CeGaT GmbH, Paul-Ehrlich-Str. 23, Tuebingen, Germany.
Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig Maximilians University of Munich, Germany.
Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig Maximilians University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig Maxiliams University of Munich, Germany.
Suphapeetiporn K; Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand. Electronic address: .
Shotelersuk V; Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.
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Źródło :
Gene [Gene] 2020 Jul 30; Vol. 749, pp. 144709. Date of Electronic Publication: 2020 Apr 25.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
MeSH Terms :
Mutation*
Phenotype*
Nervous System Diseases/*genetics
Sodium-Potassium-Exchanging ATPase/*genetics
Adolescent ; Child ; Dystonic Disorders/diagnosis ; Dystonic Disorders/genetics ; Electroencephalography ; Female ; Hemiplegia/diagnosis ; Hemiplegia/genetics ; Humans ; Male ; Nervous System Diseases/diagnosis ; Nervous System Diseases/diagnostic imaging ; Neuroimaging ; Young Adult
SCR Disease Name :
Alternating hemiplegia of childhood; Dystonia 12
Czasopismo naukowe
Tytuł :
Activation-Induced Cytidine Deaminase Expression Facilitates the Malignant Phenotype and Epithelial-to-Mesenchymal Transition in Clear Cell Renal Cell Carcinoma.
Autorzy :
Che Z; Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, China.
Fan J; Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, China.
Zhou Z; Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, China.
Li Q; Department of Urology, Renmin Hospital of Wuhan University, Wuhan, China.
Ma Z; Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, China.
Hu Z; Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, China.
Wu Y; Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, China.
Jin Y; Department of Urology, Renmin Hospital of Wuhan University, Wuhan, China.
Su Y; Department of Urology, Renmin Hospital of Wuhan University, Wuhan, China.
Liang P; Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, China.
Li H; Department of Urology, Renmin Hospital of Wuhan University, Wuhan, China.
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Źródło :
DNA and cell biology [DNA Cell Biol] 2020 Jul; Vol. 39 (7), pp. 1299-1312. Date of Electronic Publication: 2020 Jun 16.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Mary Ann Liebert Country of Publication: United States NLM ID: 9004522 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-7430 (Electronic) Linking ISSN: 10445498 NLM ISO Abbreviation: DNA Cell Biol. Subsets: MEDLINE
MeSH Terms :
Gene Expression Regulation, Neoplastic*
Phenotype*
Carcinoma, Renal Cell/*pathology
Cytidine Deaminase/*genetics
Epithelial-Mesenchymal Transition/*genetics
Kidney Neoplasms/*pathology
Cell Line, Tumor ; Cell Movement/genetics ; Humans ; Neoplasm Invasiveness/genetics ; Neoplasm Metastasis/genetics
Czasopismo naukowe
Tytuł :
Double mutation of two homologous genes YL1 and YL2 results in a leaf yellowing phenotype in soybean [Glycine max (L.) Merr].
Autorzy :
Liu M; National Center for Soybean Improvement, Key Laboratory of Biology and Genetics and Breeding for Soybean, Ministry of Agriculture, State Key Laboratory for Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, Nanjing, China.; Shandong Provincial Key Laboratory of Energy Genetics, Key Laboratory of Biofuels, Qingdao Institute of Bioenergy and Bioprocess Technology, Chinese Academy of Sciences, Qingdao, Shandong, China.
Wang Y; National Center for Soybean Improvement, Key Laboratory of Biology and Genetics and Breeding for Soybean, Ministry of Agriculture, State Key Laboratory for Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, Nanjing, China.
Nie Z; National Center for Soybean Improvement, Key Laboratory of Biology and Genetics and Breeding for Soybean, Ministry of Agriculture, State Key Laboratory for Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, Nanjing, China.
Gai J; National Center for Soybean Improvement, Key Laboratory of Biology and Genetics and Breeding for Soybean, Ministry of Agriculture, State Key Laboratory for Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, Nanjing, China.
Bhat JA; National Center for Soybean Improvement, Key Laboratory of Biology and Genetics and Breeding for Soybean, Ministry of Agriculture, State Key Laboratory for Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, Nanjing, China.
Kong J; National Center for Soybean Improvement, Key Laboratory of Biology and Genetics and Breeding for Soybean, Ministry of Agriculture, State Key Laboratory for Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, Nanjing, China.
Zhao T; National Center for Soybean Improvement, Key Laboratory of Biology and Genetics and Breeding for Soybean, Ministry of Agriculture, State Key Laboratory for Crop Genetics and Germplasm Enhancement, Nanjing Agricultural University, Nanjing, China. .
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Źródło :
Plant molecular biology [Plant Mol Biol] 2020 Jul; Vol. 103 (4-5), pp. 527-543. Date of Electronic Publication: 2020 Apr 23.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 9106343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-5028 (Electronic) Linking ISSN: 01674412 NLM ISO Abbreviation: Plant Mol. Biol. Subsets: MEDLINE
MeSH Terms :
Mutation*
Phenotype*
Genes, Plant/*genetics
Plant Leaves/*genetics
Plant Proteins/*genetics
Soybeans/*genetics
Alleles ; Base Sequence ; Chlorophyll/genetics ; Chlorophyll/metabolism ; Cloning, Molecular ; Color ; Gene Expression Regulation, Plant ; Gene Knockdown Techniques ; Gene Silencing ; Photosynthesis/genetics ; Photosynthesis/physiology ; Pigments, Biological/analysis ; Plant Leaves/cytology ; Plant Proteins/metabolism ; Seeds/cytology ; Sequence Alignment ; Sequence Analysis, Protein
Czasopismo naukowe
Tytuł :
Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.
Autorzy :
Pap ÉM; Department of Obstetrics and Gynecology Szeged, University of Szeged, Szeged, Hungary.
Farkas K; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
Tóth L; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
Fábos B; Mór Kaposi Teaching Hospital, Kaposvár, Hungary.
Széll M; Department of Medical Genetics, University of Szeged, Szeged, Hungary.; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
Németh G; Department of Obstetrics and Gynecology Szeged, University of Szeged, Szeged, Hungary.
Nagy N; Department of Medical Genetics, University of Szeged, Szeged, Hungary.; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
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Źródło :
Clinical and experimental dermatology [Clin Exp Dermatol] 2020 Jul; Vol. 45 (5), pp. 555-559. Date of Electronic Publication: 2020 Mar 09.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7606847 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin. Exp. Dermatol. Subsets: MEDLINE
MeSH Terms :
Mutation, Missense*
Phenotype*
Acro-Osteolysis/*genetics
Cathepsin C/*genetics
Papillon-Lefevre Disease/*genetics
DNA Mutational Analysis ; Female ; Humans ; Male ; Polymorphism, Single Nucleotide ; Signal Transduction
SCR Disease Name :
Keratosis palmoplantaris with periodontopathia and onychogryposis
Czasopismo naukowe
Tytuł :
Network aggregation improves gene function prediction of grapevine gene co-expression networks.
Autorzy :
Wong DCJ; Ecology and Evolution, Research School of Biology, The Australian National University, Acton, ACT, 2601, Australia. .
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Źródło :
Plant molecular biology [Plant Mol Biol] 2020 Jul; Vol. 103 (4-5), pp. 425-441. Date of Electronic Publication: 2020 Apr 07.
Typ publikacji :
Journal Article; Meta-Analysis
Journal Info :
Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 9106343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-5028 (Electronic) Linking ISSN: 01674412 NLM ISO Abbreviation: Plant Mol. Biol. Subsets: MEDLINE
MeSH Terms :
Gene Expression Regulation, Plant*/genetics
Gene Expression Regulation, Plant*/physiology
Gene Regulatory Networks*
Phenotype*
Genome, Plant/*genetics
Plant Proteins/*genetics
Vitis/*genetics
Gene Expression Profiling ; Genes, Plant/genetics ; Plant Proteins/metabolism ; RNA-Seq ; Transcriptome
Czasopismo naukowe
Tytuł :
Molecular profile of non-aflatoxigenic phenotype in native strains of Aspergillus flavus.
Autorzy :
Rao KR; Microbiology and Fermentation Technology, CSIR-Central Food Technological Research Institute, Mysuru, Karnataka, 570 020, India.; Academy of Scientific and Innovative Research (AcSIR), CSIR-Central Food Technological Research Institute Campus, Mysuru, Karnataka, 570 020, India.
Vipin AV; Microbiology and Fermentation Technology, CSIR-Central Food Technological Research Institute, Mysuru, Karnataka, 570 020, India.; Academy of Scientific and Innovative Research (AcSIR), CSIR-Central Food Technological Research Institute Campus, Mysuru, Karnataka, 570 020, India.
Venkateswaran G; Microbiology and Fermentation Technology, CSIR-Central Food Technological Research Institute, Mysuru, Karnataka, 570 020, India. .; Academy of Scientific and Innovative Research (AcSIR), CSIR-Central Food Technological Research Institute Campus, Mysuru, Karnataka, 570 020, India. .
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Źródło :
Archives of microbiology [Arch Microbiol] 2020 Jul; Vol. 202 (5), pp. 1143-1155. Date of Electronic Publication: 2020 Feb 15.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0410427 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-072X (Electronic) Linking ISSN: 03028933 NLM ISO Abbreviation: Arch. Microbiol. Subsets: MEDLINE
MeSH Terms :
Phenotype*
Aspergillus flavus/*genetics
Genes, Fungal/*genetics
Aflatoxins/genetics ; Aspergillus flavus/classification ; DNA, Ribosomal Spacer/genetics ; Mutation ; Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Phenotype and kinetics of SARS-CoV-2-specific T cells in COVID-19 patients with acute respiratory distress syndrome.
Autorzy :
Weiskopf D; Center for Infectious Disease, La Jolla Institute for Immunology, La Jolla, CA 92037, USA.
Schmitz KS; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
Raadsen MP; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
Grifoni A; Center for Infectious Disease, La Jolla Institute for Immunology, La Jolla, CA 92037, USA.
Okba NMA; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
Endeman H; Department of Intensive Care, Erasmus MC, Rotterdam, the Netherlands.
van den Akker JPC; Department of Intensive Care, Erasmus MC, Rotterdam, the Netherlands.
Molenkamp R; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
Koopmans MPG; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
van Gorp ECM; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
Haagmans BL; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
de Swart RL; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands.
Sette A; Center for Infectious Disease, La Jolla Institute for Immunology, La Jolla, CA 92037, USA.; Department of Pathology, University of California, San Diego, CA 92037, USA.; Department of Medicine, University of California, San Diego, CA 92037, USA.
de Vries RD; Department of Viroscience, Erasmus MC, Rotterdam, the Netherlands. .
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Źródło :
Science immunology [Sci Immunol] 2020 Jun 26; Vol. 5 (48).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101688624 Publication Model: Print Cited Medium: Internet ISSN: 2470-9468 (Electronic) Linking ISSN: 24709468 NLM ISO Abbreviation: Sci Immunol Subsets: MEDLINE
MeSH Terms :
Phenotype*
Betacoronavirus/*immunology
CD4-Positive T-Lymphocytes/*immunology
CD8-Positive T-Lymphocytes/*immunology
Coronavirus Infections/*immunology
Pneumonia, Viral/*immunology
Respiratory Distress Syndrome, Adult/*immunology
Aged ; Cells, Cultured ; Coronavirus Infections/blood ; Coronavirus Infections/virology ; Cytokines/metabolism ; Female ; Humans ; Immunologic Memory ; Kinetics ; Longitudinal Studies ; Male ; Middle Aged ; Pandemics ; Pneumonia, Viral/blood ; Pneumonia, Viral/virology ; Respiratory Distress Syndrome, Adult/blood ; Respiratory Distress Syndrome, Adult/virology ; Severity of Illness Index ; Spike Glycoprotein, Coronavirus/immunology ; Viral Load/immunology
SCR Disease Name :
COVID-19
SCR Organism :
severe acute respiratory syndrome coronavirus 2
Czasopismo naukowe
Tytuł :
Feasibility of Using EN 13606 Clinical Archetypes for Defining Computable Phenotypes.
Autorzy :
Tapuria A; King's College London (KCL).
Kalra D; University College London.
Curcin V; King's College London (KCL).
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Źródło :
Studies in health technology and informatics [Stud Health Technol Inform] 2020 Jun 16; Vol. 270, pp. 228-232.
Typ publikacji :
Journal Article
Journal Info :
Publisher: IOS Press Country of Publication: Netherlands NLM ID: 9214582 Publication Model: Print Cited Medium: Internet ISSN: 1879-8365 (Electronic) Linking ISSN: 09269630 NLM ISO Abbreviation: Stud Health Technol Inform Subsets: Health Technology
MeSH Terms :
Electronic Health Records*
Phenotype*
Precision Medicine*
Medical Record Linkage/*methods
Medical Records Systems, Computerized/*organization & administration
Algorithms ; Database Management Systems ; Feasibility Studies ; Humans ; Information Storage and Retrieval ; London ; Medical Records Systems, Computerized/standards ; Models, Theoretical
Czasopismo naukowe
Tytuł :
Drug hypersensitivity in the fast lane: What clinicians should know about phenotypes, endotypes, and biomarkers.
Autorzy :
Jakubovic BD; Department of Medicine, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada. Electronic address: .
Vecillas LL; Divison of Allergy, Marqués de Valdecilla University Hospital-Instituto de Investigacion Marques de Valdecilla (IDIVAL), Santander, Spain.
Jimenez-Rodriguez TW; Allergy Section, Alicante General University Hospital-ISABIAL, ARADyAL Spanish Network, Alicante, Spain.
Sanchez-Sanchez S; Division of Allergy & Clinical Immunology, Department of Medicine, University Hospital Complex of A Coruna, A Coruna, Spain.
Castells M; Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Boston, Massachusetts.
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Źródło :
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology [Ann Allergy Asthma Immunol] 2020 Jun; Vol. 124 (6), pp. 566-572. Date of Electronic Publication: 2020 Apr 15.
Typ publikacji :
Journal Article; Review
Journal Info :
Publisher: American College of Allergy, Asthma, and Immunology Country of Publication: United States NLM ID: 9503580 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4436 (Electronic) Linking ISSN: 10811206 NLM ISO Abbreviation: Ann. Allergy Asthma Immunol. Subsets: MEDLINE
MeSH Terms :
Biomarkers*
Phenotype*
Drug Hypersensitivity/*diagnosis
Drug Hypersensitivity/*etiology
Basophils ; Desensitization, Immunologic ; Disease Management ; Disease Susceptibility ; Drug Hypersensitivity/epidemiology ; Drug Hypersensitivity/therapy ; Genetic Predisposition to Disease ; Health Care Costs ; Humans ; Hypersensitivity, Immediate/diagnosis ; Hypersensitivity, Immediate/etiology ; Immunoglobulin E ; Severity of Illness Index ; Skin Tests
Czasopismo naukowe
Tytuł :
Standard machine learning approaches outperform deep representation learning on phenotype prediction from transcriptomics data.
Autorzy :
Smith AM; Unlearn.AI, Inc., San Francisco, CA, USA. .
Walsh JR; Unlearn.AI, Inc., San Francisco, CA, USA.
Long J; Computational Sciences, Worldwide Research & Development, Pfizer Inc., Cambridge, MA, USA.
Davis CB; Oncology Global Product Development, Pfizer Inc., San Diego, CA, USA.
Henstock P; Business Technology, Pfizer Inc., Cambridge, MA, USA.
Hodge MR; Inflammation and Immunology, Worldwide Research & Development, Pfizer Inc., Cambridge, MA, USA.
Maciejewski M; Inflammation and Immunology, Worldwide Research & Development, Pfizer Inc., Cambridge, MA, USA.
Mu XJ; Oncology Research & Development, Worldwide Research & Development, Pfizer Inc., San Diego, CA, USA.
Ra S; Computational Sciences, Worldwide Research & Development, Pfizer Inc., Cambridge, MA, USA.
Zhao S; Computational Sciences, Worldwide Research & Development, Pfizer Inc., Cambridge, MA, USA.
Ziemek D; Inflammation and Immunology, Worldwide Research & Development, Pfizer Pharma GmbH., Berlin, Germany.
Fisher CK; Unlearn.AI, Inc., San Francisco, CA, USA.
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Źródło :
BMC bioinformatics [BMC Bioinformatics] 2020 Mar 20; Vol. 21 (1), pp. 119. Date of Electronic Publication: 2020 Mar 20.
Typ publikacji :
Journal Article
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105 (Electronic) Linking ISSN: 14712105 NLM ISO Abbreviation: BMC Bioinformatics Subsets: MEDLINE
MeSH Terms :
Deep Learning*
Gene Expression Profiling*
Machine Learning*
Phenotype*
Disease/genetics ; Humans ; Supervised Machine Learning
Czasopismo naukowe
Tytuł :
[Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor Ⅺ Deficiency].
Autorzy :
Weng MS; Clinical Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, China.
Lin F; Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, China.
Zhang JC; Clinical Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, China.
Wu JR; Clinical Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, China.
Yu XM; Digestive Department, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, China.
Yang LY; Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, China.
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Źródło :
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition [Sichuan Da Xue Xue Bao Yi Xue Ban] 2020 Mar; Vol. 51 (2), pp. 252-256.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sichuan da xue xue bao (yi xue ban) bian ji bu Country of Publication: China NLM ID: 101162609 Publication Model: Print Cited Medium: Print ISSN: 1672-173X (Print) Linking ISSN: 1672173X NLM ISO Abbreviation: Sichuan Da Xue Xue Bao Yi Xue Ban Subsets: MEDLINE
MeSH Terms :
Factor XI*/genetics
Factor XI Deficiency*/genetics
Pedigree*
Phenotype*
Adult ; Child ; Female ; Genotype ; Heterozygote ; Humans ; Male ; Mutation ; Polymerase Chain Reaction ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Enhanced clinical phenotyping by mechanistic bioprofiling in heart failure with preserved ejection fraction: insights from the MEDIA-DHF study (The Metabolic Road to Diastolic Heart Failure).
Autorzy :
Stienen S; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
Ferreira JP; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.; Department of Physiology and Cardiothoracic Surgery, Cardiovascular Research and Development Unit, Faculty of Medicine, University of Porto, Porto, Portugal.
Kobayashi M; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
Preud'homme G; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
Dobre D; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.; Clinical research and Investigation Unit, Psychotherapeutic Center of Nancy, Laxou, France.
Machu JL; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
Duarte K; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
Bresso E; Equipe CAPSID, LORIA (CNRS, Inria NGE, Université de Lorraine), Vandoeuvre-lès-Nancy, France.
Devignes MD; Equipe CAPSID, LORIA (CNRS, Inria NGE, Université de Lorraine), Vandoeuvre-lès-Nancy, France.
López N; Navarrabiomed, Complejo Hospitalario de Navarra (CHN), Universidad Pública de Navarra (UPNA), IdiSNA, Pamplona, Spain.
Girerd N; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
Aakhus S; Department of Cardiology and Institute for Surgical Research, Oslo University Hospital, Oslo, Norway.; ISB, Norwegian University of Science and Technology, Trondheim, Norway.
Ambrosio G; Division of Cardiology, University of Perugia School of Medicine, Perugia, Italy.
Brunner-La Rocca HP; Department of Cardiology, Maastricht University Medical Center, Maastricht, the Netherlands.
Fontes-Carvalho R; Department of Surgery and Physiology, Cardiovascular Research Unit (UnIC), Faculty of Medicine, University of Porto, Porto, Portugal.
Fraser AG; Wales Heart Research Institute, Cardiff University, Cardiff, UK.
van Heerebeek L; Department of Cardiology, Onze Lieve Vrouwe Gasthuis, Amsterdam, the Netherlands.
Heymans S; Department of Cardiology, CARIM School for Cardiovascular Diseases Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.; Department of Cardiovascular Sciences, Centre for Molecular and Vascular Biology, Leuven, Belgium.; William Harvey Research Institute, Barts Heart Centre, Queen Mary University of London, London, UK.
de Keulenaer G; Laboratory of Physiopharmacology, Antwerp University, and ZNA Hartcentrum, Antwerp, Belgium.
Marino P; Clinical Cardiology, Università del Piemonte Orientale, Department of Translational Medicine, Azienda Ospedaliero Universitaria 'Maggiore della Carità', Novara, Italy.
McDonald K; School of Medicine and Medical Sciences, St Michael's Hospital Dun Laoghaire Co. Dublin, Dublin, Ireland.
Mebazaa A; Department of Anaesthesiology and Critical Care Medicine, Saint Louis and Lariboisière University Hospitals and INSERM UMR-S 942, Paris, France.
Papp Z; Division of Clinical Physiology, Department of Cardiology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Raddino R; Department of Cardiology, Spedali Civili di Brescia, Brescia, Italy.
Tschöpe C; Department of Cardiology, Campus Virchow-Klinikum, C, Harite Universitaetsmedizin Berlin, Berlin Institute of Health - Center for Regenerative Therapies (BIH-BCRT), and the German Center for Cardiovascular Research (DZHK; Berlin partner site), Berlin, Germany.
Paulus WJ; Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Zannad F; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
Rossignol P; CHRU de Nancy, F-CRIN INI-CRCT (Cardiovascular and Renal Clinical Trialists), INSERM U1116, Centre d'Investigation Clinique et Plurithématique 1433, INSERM, Université de Lorraine, Nancy, France.
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Źródło :
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals [Biomarkers] 2020 Mar; Vol. 25 (2), pp. 201-211. Date of Electronic Publication: 2020 Feb 16.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Tayor & Francis Country of Publication: England NLM ID: 9606000 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1366-5804 (Electronic) Linking ISSN: 1354750X NLM ISO Abbreviation: Biomarkers Subsets: MEDLINE
MeSH Terms :
Phenotype*
Heart Failure/*physiopathology
Aged ; Biomarkers/analysis ; Cluster Analysis ; Female ; Humans ; Machine Learning ; Male ; Middle Aged ; Proteomics ; Stroke Volume
Czasopismo naukowe
Tytuł :
Clinical phenotypes of SARS-CoV-2: implications for clinicians and researchers.
Autorzy :
Rello J; Centro de Investigación Biomedica en Red (CIBERES), Instituto de Salud Carlos III, Madrid, Spain .; CRIPS, Vall d'Hebron Institute of Research, Barcelona, Spain.; Clinical Research, CHU Nîmes, Université Montpellier-Nîmes, Nîmes, France.
Storti E; Anesthesia and ICU Dept, Hospitale de Lodi, Lodi, Italy.
Belliato M; UOC Anestesia e Rianimazione 1, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Serrano R; Critical Care Dept, Hospital de Hellin, Albacete, Spain.
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Źródło :
The European respiratory journal [Eur Respir J] 2020 May 21; Vol. 55 (5). Date of Electronic Publication: 2020 May 21 (Print Publication: 2020).
Typ publikacji :
Comparative Study; Journal Article
Journal Info :
Publisher: European Respiratory Society Country of Publication: England NLM ID: 8803460 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1399-3003 (Electronic) Linking ISSN: 09031936 NLM ISO Abbreviation: Eur. Respir. J. Subsets: MEDLINE
MeSH Terms :
Phenotype*
Acute Lung Injury/*physiopathology
Betacoronavirus/*genetics
Coronavirus Infections/*genetics
Pneumonia, Viral/*genetics
SARS Virus/*genetics
Acute Lung Injury/therapy ; Acute Lung Injury/virology ; Biomarkers/blood ; Biomedical Research ; Coronavirus Infections/therapy ; Disease Management ; Female ; Humans ; Hypoxia/diagnosis ; Hypoxia/etiology ; Lung Compliance/genetics ; Male ; Pandemics ; Pneumonia, Viral/therapy ; Procalcitonin/metabolism ; SARS Virus/pathogenicity
SCR Disease Name :
COVID-19
SCR Organism :
severe acute respiratory syndrome coronavirus 2
Czasopismo naukowe
Tytuł :
[Phenotype-genotype analysis and detection of gene variant in six families with osteogenesis imperfecta].
Autorzy :
Hou R; Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. .
Li C
Liu C
Li H
Li-Ling J
Lyu Y
Zhang Z
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 May 10; Vol. 37 (5), pp. 514-518.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :
Collagen Type I*/genetics
Genetic Variation*
Genotype*
Osteogenesis Imperfecta*/genetics
Phenotype*
Female ; Humans ; Male ; Mutation ; Pedigree ; Pregnancy
Czasopismo naukowe
Tytuł :
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases.
Autorzy :
DeBoever C; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Tanigawa Y; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Aguirre M; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
McInnes G; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Lavertu A; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Rivas MA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2020 May 07; Vol. 106 (5), pp. 611-622. Date of Electronic Publication: 2020 Apr 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genome-Wide Association Study*
Phenotype*
Disease/*genetics
Asthma/genetics ; Databases, Factual ; Female ; Genetics, Medical ; Genotype ; Humans ; Male ; Neoplasms/genetics ; United Kingdom
Czasopismo naukowe
Tytuł :
Genetically engineered control of phenotypic structure in microbial colonies.
Autorzy :
Bittihn P; BioCircuits Institute, University of California, San Diego, La Jolla, CA, USA.; The San Diego Center for Systems Biology, La Jolla, CA, USA.; Max Planck Institute for Dynamics and Self-Organization, Göttingen, Germany.
Didovyk A; BioCircuits Institute, University of California, San Diego, La Jolla, CA, USA.; Vertex Pharmaceuticals, San Diego, CA, USA.
Tsimring LS; BioCircuits Institute, University of California, San Diego, La Jolla, CA, USA. .; The San Diego Center for Systems Biology, La Jolla, CA, USA. .
Hasty J; BioCircuits Institute, University of California, San Diego, La Jolla, CA, USA. .; The San Diego Center for Systems Biology, La Jolla, CA, USA. .; Department of Bioengineering, University of California, San Diego, La Jolla, CA, USA. .; Molecular Biology Section, Division of Biological Sciences, University of California, San Diego, La Jolla, CA, USA. .
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Źródło :
Nature microbiology [Nat Microbiol] 2020 May; Vol. 5 (5), pp. 697-705. Date of Electronic Publication: 2020 Apr 13.
Typ publikacji :
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.
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101674869 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2058-5276 (Electronic) Linking ISSN: 20585276 NLM ISO Abbreviation: Nat Microbiol Subsets: MEDLINE
MeSH Terms :
Genetic Engineering*
Phenotype*
Bacteria/genetics ; Computer Simulation ; Escherichia coli/genetics ; Gene Expression Regulation, Bacterial ; Gene Regulatory Networks ; Microfluidics ; Synthetic Biology
Czasopismo naukowe
Tytuł :
[Clinical phenotype and genotype analysis of the family with the Usher syndrome].
Autorzy :
Lin C; Department of Critical Care Medicine, People's Hospital of Liaoning Province, Shenyang, Liaoning 110016, China. .
Lyu Y
Li C
Zhang Z
Feng X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Apr 10; Vol. 37 (4), pp. 431-433.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :
Genotype*
Phenotype*
Usher Syndromes*/genetics
Usher Syndromes*/pathology
Child ; Female ; Genetic Variation ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Myosin VIIa/genetics ; Night Blindness/etiology ; Pedigree
Czasopismo naukowe
Tytuł :
[Clinical phenotype and variantal analysis of a pedigree affected with hereditary coagulation factor V deficiency].
Autorzy :
Che F; Shaanxi Institute of Pediatric Diseases, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China. .
Huang W
Yang Y
Wang G
Zhang L
Liang R
Zhao J
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Apr 10; Vol. 37 (4), pp. 427-430.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :
Genetic Variation*
Pedigree*
Phenotype*
Factor V Deficiency/*genetics
Aged ; Factor V ; Heterozygote ; Humans ; Male ; Mutation
Czasopismo naukowe

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