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Wyszukujesz frazę ""genetic association studies"" wg kryterium: Temat


Tytuł:
Clinical, laboratory and genetic features of Erdheim-Chester disease patients: analysis of a retrospective cohort of two reference centers in Latin America.
Autorzy:
Guerra Soares Brandão AA; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Ramires Neder Abdo A; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Lage LAPC; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.; Laboratory of Medical Investigation in Pathogenesis and Targeted Therapy in Onco-Immuno-Hematology (LIM-31), Department of Hematology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo Brazil.
Fatobene G; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Pereira J; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.; Laboratory of Medical Investigation in Pathogenesis and Targeted Therapy in Onco-Immuno-Hematology (LIM-31), Department of Hematology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo Brazil.
Rocha V; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.; Laboratory of Medical Investigation in Pathogenesis and Targeted Therapy in Onco-Immuno-Hematology (LIM-31), Department of Hematology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo Brazil.; Churchill Hospital, Oxford University, Oxford, UK.
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Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2022 Dec; Vol. 27 (1), pp. 65-69.
Typ publikacji:
Letter
MeSH Terms:
Biomarkers, Tumor*
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Erdheim-Chester Disease/*diagnosis
Erdheim-Chester Disease/*genetics
Biopsy ; Bone Marrow/pathology ; Brazil ; Erdheim-Chester Disease/therapy ; Humans ; Latin America ; Mutation ; Neoplasm Staging ; Phenotype ; Retrospective Studies
Opinia redakcyjna
Tytuł:
Effect of genetic variants in the SMAD1 and SMAD5 genes promoter on growth and beef quality traits in cattle.
Autorzy:
Ning Y; College of Chemistry and Chemical Engineering, Xianyang Normal University, Xianyang, Shaanxi 712000, China.
Zhang L; Institute of Physical Education, Yan'an University, Yan'an 716000, Shaanxi, China. Electronic address: .
Wang W; College of Chemistry and Chemical Engineering, Xianyang Normal University, Xianyang, Shaanxi 712000, China.
Wu S; Qinghai Academy of Animal Science and Veterinary Medicine, Qinghai University, Xining, China.
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Źródło:
Gene [Gene] 2022 Apr 20; Vol. 819, pp. 146220. Date of Electronic Publication: 2022 Jan 29.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Association Studies*
Polymorphism, Single Nucleotide*
Promoter Regions, Genetic*
Cattle/*genetics
Cattle/*metabolism
Smad1 Protein/*genetics
Smad5 Protein/*genetics
Alleles ; Animals ; Body Size/genetics ; Body Weights and Measures ; Genotype ; Haplotypes ; Smad1 Protein/metabolism ; Smad5 Protein/metabolism
Czasopismo naukowe
Tytuł:
Maize plant architecture trait QTL mapping and candidate gene identification based on multiple environments and double populations.
Autorzy:
Fei J; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Lu J; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Jiang Q; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Liu Z; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Yao D; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Qu J; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China.
Liu S; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China.
Guan S; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China. .
Ma Y; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China.
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Źródło:
BMC plant biology [BMC Plant Biol] 2022 Mar 11; Vol. 22 (1), pp. 110. Date of Electronic Publication: 2022 Mar 11.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Chromosome Mapping*
Genetic Association Studies*
Phenotype*
Quantitative Trait Loci*
Zea mays/*anatomy & histology
Zea mays/*genetics
Crops, Agricultural/anatomy & histology ; Crops, Agricultural/genetics ; Gene Expression Regulation, Plant ; Genes, Plant ; Genetic Variation ; Genotype
Czasopismo naukowe
Tytuł:
From Mendel laws to whole genetic association study to decipher the swine mulefoot phenotype.
Autorzy:
Facioli FL; Faculdade de Agronomia e Medicina Veterinária, Curso de Medicina Veterinária, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil.
da Silva AN; Faculdade de Agronomia e Medicina Veterinária, Curso de Medicina Veterinária, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil.
Dos Santos ED; Faculdade de Agronomia e Medicina Veterinária, Curso de Medicina Veterinária, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil.
de Camargo J; Programa de Pós Graduação em Bioexperimentação, Faculdade de Agronomia e Medicina Veterinária,Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil.
Warpechowski MB; Departamento de Zootecnia, Setor de Ciências Agrárias, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
da Oliveira Cruz J; Faculdade de Agronomia e Medicina Veterinária, Curso de Medicina Veterinária, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil.
Lof LM; Faculdade de Agronomia e Medicina Veterinária, Curso de Medicina Veterinária, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil.
Zanella R; Faculdade de Agronomia e Medicina Veterinária, Curso de Medicina Veterinária, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil; Programa de Pós Graduação em Bioexperimentação, Faculdade de Agronomia e Medicina Veterinária,Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil. Electronic address: .
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Źródło:
Research in veterinary science [Res Vet Sci] 2022 Mar; Vol. 143, pp. 58-65. Date of Electronic Publication: 2021 Dec 20.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Association Studies*/veterinary
Polymorphism, Single Nucleotide*
Foot Diseases/*veterinary
Hoof and Claw/*abnormalities
Animals ; Female ; Foot Diseases/pathology ; Genotype ; Male ; Phenotype ; Swine/genetics
Czasopismo naukowe
Tytuł:
Protein prediction for trait mapping in diverse populations.
Autorzy:
Schubert R; Department of Mathematics and Statistics, Loyola University Chicago, Chicago, IL, United States of America.; Department of Biology, Loyola University Chicago, Chicago, IL, United States of America.; Program in Bioinformatics, Loyola University Chicago, Chicago, IL, United States of America.
Geoffroy E; Program in Bioinformatics, Loyola University Chicago, Chicago, IL, United States of America.
Gregga I; Department of Biology, Loyola University Chicago, Chicago, IL, United States of America.
Mulford AJ; Department of Biology, Loyola University Chicago, Chicago, IL, United States of America.; Program in Bioinformatics, Loyola University Chicago, Chicago, IL, United States of America.
Aguet F; Broad Institute, Cambridge, MA, United States of America.
Ardlie K; Broad Institute, Cambridge, MA, United States of America.
Gerszten R; Beth Israel Deaconess Medical Center, Boston, MA, United States of America.
Clish C; Broad Institute, Cambridge, MA, United States of America.
Van Den Berg D; University of Southern California, Los Angeles, CA, United States of America.
Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, United States of America.
Durda P; Laboratory for Clinical Biochemistry Research, University of Vermont, Burlington, VT, United States of America.
Johnson WC; Collaborative Health Studies Coordinating Center, University of Washington, Seattle, WA, United States of America.
Cornell E; Laboratory for Clinical Biochemistry Research, University of Vermont, Burlington, VT, United States of America.
Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, United States of America.
Liu Y; Department of Medicine, Duke University School of Medicine, Durham, NC, United States of America.
Tracy R; Laboratory for Clinical Biochemistry Research, University of Vermont, Burlington, VT, United States of America.
Conomos M; Department of Biostatistics, University of Washington, Seattle, WA, United States of America.
Blackwell T; Department of Biostatistics, University of Michigan, Ann Arbor, MI, United States of America.
Papanicolaou G; Epidemiology Branch, National Heart, Lung and Blood Institute, Bethesda, MD, United States of America.
Lappalainen T; New York Genome Center and Department of Systems Biology, Columbia University, New York, NY United States of America.
Mikhaylova AV; Department of Biostatistics, University of Washington, Seattle, WA, United States of America.
Thornton TA; Department of Biostatistics, University of Washington, Seattle, WA, United States of America.
Cho MH; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, United States of America.
Gignoux CR; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America.
Lange L; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America.
Lange E; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America.
Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, United States of America.
Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, United States of America.
Manichaikul A; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, United States of America.
Im HK; Section of Genetic Medicine, The University of Chicago, Chicago, IL, United States of America.
Wheeler HE; Department of Biology, Loyola University Chicago, Chicago, IL, United States of America.; Program in Bioinformatics, Loyola University Chicago, Chicago, IL, United States of America.
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Corporate Authors:
NHLBI TOPMed Consortium
Źródło:
PloS one [PLoS One] 2022 Feb 24; Vol. 17 (2), pp. e0264341. Date of Electronic Publication: 2022 Feb 24 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Models, Genetic*
Atherosclerosis/*genetics
Proteins/*genetics
Proteome/*genetics
Atherosclerosis/ethnology ; Female ; Gene Frequency ; Humans ; Male ; Pilot Projects ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci
Czasopismo naukowe
Tytuł:
Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population.
Autorzy:
Wankaew N; Program in Bioinformatics and Computational Biology, Graduate School, Chulalongkorn University, Bangkok, Thailand.
Chariyavilaskul P; Clinical Pharmacokinetics and Pharmacogenomics Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Department of Pharmacology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Chamnanphon M; Clinical Pharmacokinetics and Pharmacogenomics Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Department of Pathology, Faculty of Medicine, Srinakharinwirot University, Nakornnayok, Thailand.
Assawapitaksakul A; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
Chetruengchai W; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
Pongpanich M; Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.; Age-related Inflammation and Degeneration Research Unit, Chulalongkorn University, Bangkok, Thailand.
Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
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Źródło:
PloS one [PLoS One] 2022 Feb 17; Vol. 17 (2), pp. e0263621. Date of Electronic Publication: 2022 Feb 17 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Genetic Markers*
Polymorphism, Single Nucleotide*
Asians/*genetics
High-Throughput Nucleotide Sequencing/*methods
Pharmacogenetics/*methods
Whole Genome Sequencing/*methods
Female ; Gene Frequency ; Healthy Volunteers ; Humans ; Male ; Thailand
Czasopismo naukowe
Tytuł:
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Autorzy:
Gibson JT; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
Huang M; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
Shenelli Croos Dabrera M; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
Shukla K; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia.
Rothe H; Centre for Nephrology and Metabolic Disorders, 02943, Weisswasser, Germany.
Hilbert P; Departement de Biologie Moleculaire, Institute de Pathologie et de Genetique ASBL, Gosselies, Belgium.
Deltas C; Center of Excellence in Biobanking and Biomedical Research, University of Cyprus Medical School, Nicosia, Cyprus.
Storey H; Molecular Genetics, Viapath Laboratories, 5th Floor Tower Wing, Guy's Hospital, London, SE1 9RT, UK.
Lipska-Ziętkiewicz BS; Centre for Rare Diseases, and Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland.
Chan MMY; Department of Renal Medicine, University College London, London, UK.
Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, London, UK.
Gale DP; Department of Renal Medicine, University College London, London, UK.
Cerkauskaite A; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Savige J; Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia. .
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Corporate Authors:
Genomics England Research Consortium
Źródło:
Scientific reports [Sci Rep] 2022 Feb 17; Vol. 12 (1), pp. 2722. Date of Electronic Publication: 2022 Feb 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Amino Acid Substitution/*genetics
Autoantigens/*genetics
Collagen Type IV/*genetics
Glycine/*genetics
Nephritis, Hereditary/*genetics
Adult ; Databases, Genetic ; Deafness/complications ; Deafness/genetics ; Female ; Genetic Variation ; Hematuria/complications ; Hematuria/genetics ; Heterozygote ; Humans ; Logistic Models ; Male ; Mutation, Missense ; Nephritis, Hereditary/complications ; Nephritis, Hereditary/epidemiology ; Prevalence ; Proportional Hazards Models ; Renal Insufficiency/complications ; Renal Insufficiency/genetics ; Risk Factors ; Young Adult
Czasopismo naukowe
Tytuł:
Prioritization of putatively detrimental variants in euploid miscarriages.
Autorzy:
Buonaiuto S; University of Campania Luigi Vanvitelli, Naples, 81100, Italy.
Biase ID; MeriGen Research, Naples, 80131, Italy.
Aleotti V; Department of Neurosciences and Rehabilitation, University of Ferrara, Ferrara, 44121, Italy.
Ravaei A; Department of Neurosciences and Rehabilitation, University of Ferrara, Ferrara, 44121, Italy.
Marino A; Igenomix Italy, Marostica, 36063, Italy.
Damaggio G; University of Naples Federico II, Naples, Italy.
Chierici M; Fondazione Bruno Kessler, DSH Lab, Trento, 38123, Italy.
Pulijala M; Monash University Malaysia Genomics Facility, Tropical Medicine and Biology Multidisciplinary Platform, 47500, Bandar Sunway, Malaysia.; School of Science, Monash University Malaysia, 47500, Bandar Sunway, Malaysia.
D'Ambrosio P; MeriGen Research, Naples, 80131, Italy.
Esposito G; MeriGen Research, Naples, 80131, Italy.
Ayub Q; Monash University Malaysia Genomics Facility, Tropical Medicine and Biology Multidisciplinary Platform, 47500, Bandar Sunway, Malaysia.; School of Science, Monash University Malaysia, 47500, Bandar Sunway, Malaysia.
Furlanello C; HK3 Lab, Rovereto, 38068, Italy.
Greco P; Department of Medical Sciences, University of Ferrara, Ferrara, 44121, Italy.
Capalbo A; Igenomix Italy, Marostica, 36063, Italy.
Rubini M; Department of Neurosciences and Rehabilitation, University of Ferrara, Ferrara, 44121, Italy.
Biase SD; MeriGen Research, Naples, 80131, Italy.
Colonna V; Institute of Genetics and Biophysics, National Research Council, Naples, 80111, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2022 Feb 07; Vol. 12 (1), pp. 1997. Date of Electronic Publication: 2022 Feb 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Aneuploidy*
Genetic Association Studies*
Abortion, Spontaneous/*genetics
Genetic Predisposition to Disease/*genetics
Genetic Variation/*genetics
Animals ; Cell Cycle Proteins/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Chromosomes, Human, Pair 9/genetics ; Female ; Humans ; Mice ; Nuclear Proteins ; Pregnancy ; Receptors, Notch/genetics ; Repressor Proteins ; Wnt Proteins/genetics
Czasopismo naukowe
Tytuł:
Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.
Autorzy:
Makowski C; Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
van der Meer D; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; School of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
Dong W; Department of Bioengineering, University of California, San Diego, CA, USA.
Wang H; Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
Wu Y; Department of Bioengineering, University of California, San Diego, CA, USA.
Zou J; Division of Biostatistics, Herbert Wertheim School of Public Health and Human Longevity Science, University of California, San Diego, CA, USA.
Liu C; Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
Rosenthal SB; Center for Computational Biology and Bioinformatics, University of California, San Diego, CA, USA.
Hagler DJ Jr; Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
Fan CC; Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
Kremen WS; Department of Psychiatry and Center for Behavior Genetics of Aging, University of California, San Diego, CA, USA.
Andreassen OA; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Jernigan TL; Center for Human Development, University of California, San Diego, CA, USA.
Dale AM; Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Zhang K; Department of Bioengineering, University of California, San Diego, CA, USA.
Visscher PM; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Yang J; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.; School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.
Chen CH; Center for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2022 Feb 04; Vol. 375 (6580), pp. 522-528. Date of Electronic Publication: 2022 Feb 03.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Genetic Loci*
Genetic Variation*
Cerebral Cortex/*anatomy & histology
Cerebral Cortex/*physiology
Adult ; Aged ; Aged, 80 and over ; Cerebral Cortex/diagnostic imaging ; Cerebral Cortex/growth & development ; Child ; Chromatin/genetics ; Cohort Studies ; Female ; Gene Ontology ; Genome, Human ; Genome-Wide Association Study ; Humans ; Magnetic Resonance Imaging ; Male ; Mental Disorders/genetics ; Middle Aged ; Molecular Sequence Annotation ; Multifactorial Inheritance ; Polymorphism, Single Nucleotide ; Regulatory Sequences, Nucleic Acid
Czasopismo naukowe
Tytuł:
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Autorzy:
Vincenten SCC; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Van Der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Mul K; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Badrising UA; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.
Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Van Der Heijden OWH; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, the Netherlands.
Van Engelen BGM; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Voermans NC; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
De Die-Smulders CEM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Lassche S; Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Zuyderland Medical Centre, Heerlen, the Netherlands.
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Źródło:
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 149-160. Date of Electronic Publication: 2021 Aug 01.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Genetic Association Studies*/methods
Genetic Counseling*
Genetic Predisposition to Disease*
Muscular Dystrophy, Facioscapulohumeral/*diagnosis
Muscular Dystrophy, Facioscapulohumeral/*genetics
Adult ; Clinical Decision-Making ; Diagnosis, Differential ; Disease Management ; Female ; Genetic Testing ; Humans ; Male ; Multifactorial Inheritance ; Phenotype ; Pregnancy ; Pregnancy Complications ; Pregnancy Outcome ; Prenatal Diagnosis ; Severity of Illness Index
Czasopismo naukowe
Tytuł:
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Autorzy:
Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland.
Hirschfeld AS; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Winczewska-Wiktor A; Department of Child Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Budzyńska E; Central Teaching Hospital, The Medical University of Lodz, Poland.
Jakubiuk-Tomaszuk A; Department of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, Poland.; Medical Genetics Unit, Mastermed Medical Center, Poland.
Piontek A; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Steinborn B; Department of Child Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Kozubski W; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
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Źródło:
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 190-207. Date of Electronic Publication: 2021 Nov 24.
Typ publikacji:
Case Reports; Journal Article; Meta-Analysis; Systematic Review
MeSH Terms:
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Xanthomatosis, Cerebrotendinous/*diagnosis
Xanthomatosis, Cerebrotendinous/*genetics
Adolescent ; Adult ; Alleles ; Cholestanetriol 26-Monooxygenase/genetics ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Mutation ; Phenotype ; Poland ; Symptom Assessment ; Young Adult
Czasopismo naukowe
Tytuł:
Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk.
Autorzy:
Kulminski AM; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC, USA. Electronic address: .
Philipp I; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC, USA.
Shu L; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC, USA.
Culminskaya I; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, NC, USA.
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Źródło:
Neurobiology of aging [Neurobiol Aging] 2022 Feb; Vol. 110, pp. 122-131. Date of Electronic Publication: 2021 Sep 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genetic Association Studies*
Alzheimer Disease/*genetics
Apolipoprotein C-I/*genetics
Apolipoproteins E/*genetics
Genetic Predisposition to Disease/*genetics
Mitochondrial Precursor Protein Import Complex Proteins/*genetics
Polymorphism, Genetic/*genetics
Aged ; Alleles ; Cohort Studies ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Risk
Czasopismo naukowe
Tytuł:
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Autorzy:
Ticci C; Metabolic Disease Unit, Meyer Children's Hospital, Florence, Italy.
Nesti C; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Rubegni A; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Doccini S; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Baldacci J; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Dal Canto F; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Ragni L; Paediatric Cardiology and ACHD Unit, S. Orsola Hospital, Bologna, Italy.
Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
Donati MA; Metabolic Disease Unit, Meyer Children's Hospital, Florence, Italy.
Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
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Źródło:
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 260-264. Date of Electronic Publication: 2021 Nov 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alleles*
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Phenotype*
Malate Dehydrogenase/*genetics
Child ; Child, Preschool ; DNA Mutational Analysis ; Genome, Mitochondrial ; Humans ; Infant ; Magnetic Resonance Imaging ; Neuroimaging ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł:
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis.
Autorzy:
Jose M; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Poulose P; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Sundaram S; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Radhakrishnan A; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Nampoothiri S; Amrita Institute of Medical Sciences, Kochi, India.
Menon RN; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
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Źródło:
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 270-271. Date of Electronic Publication: 2021 Dec 09.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Whole Exome Sequencing*
Myoclonic Epilepsies, Progressive/*diagnosis
Myoclonic Epilepsies, Progressive/*genetics
Genetic Variation ; Humans ; Phenotype
Raport
Tytuł:
Genome-Wide Epigenomic Analyses in Patients With Nociceptive and Neuropathic Chronic Pain Subtypes Reveals Alterations in Methylation of Genes Involved in the Neuro-Musculoskeletal System.
Autorzy:
Stenz L; Department of Genetic Medicine and Development, Geneva University, Medicine Faculty, Geneva, Switzerland.
Carré JL; Institute for Research in Rehabilitation, Clinique romande de réadaptation, Sion, Switzerland; Department of Medical Research, Clinique romande de réadaptation, Sion, Switzerland.
Luthi F; Institute for Research in Rehabilitation, Clinique romande de réadaptation, Sion, Switzerland; Department of Musculoskeletal Rehabilitation, Clinique romande de réadaptation, Sion, Switzerland; Department of Physical Medicine and Rehabilitation, Orthopaedic Hospital, Lausanne University Hospital, Lausanne, Switzerland.
Vuistiner P; Institute for Research in Rehabilitation, Clinique romande de réadaptation, Sion, Switzerland; Department of Medical Research, Clinique romande de réadaptation, Sion, Switzerland.
Burrus C; Institute for Research in Rehabilitation, Clinique romande de réadaptation, Sion, Switzerland; Department of Musculoskeletal Rehabilitation, Clinique romande de réadaptation, Sion, Switzerland.
Paoloni-Giacobino A; Department of Genetic Medicine and Development, Geneva University, Medicine Faculty, Geneva, Switzerland.
Léger B; Institute for Research in Rehabilitation, Clinique romande de réadaptation, Sion, Switzerland; Department of Medical Research, Clinique romande de réadaptation, Sion, Switzerland. Electronic address: .
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Źródło:
The journal of pain [J Pain] 2022 Feb; Vol. 23 (2), pp. 326-336. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Chronic Pain/*genetics
Epigenome/*genetics
Neuralgia/*genetics
Nociceptive Pain/*genetics
Adult ; Cohort Studies ; DNA Methylation/genetics ; Female ; Humans ; Male ; Middle Aged ; Musculoskeletal System/metabolism ; Nervous System/metabolism
Czasopismo naukowe
Tytuł:
Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease.
Autorzy:
Jiang L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Mei JP; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhao YW; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhang R; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Pan HX; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yang Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Sun QY; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xu Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yan XX; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Tan JQ; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Li JC; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Tang BS; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Guo JF; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China. Electronic address: .
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Źródło:
Neurobiology of aging [Neurobiol Aging] 2022 Feb; Vol. 110, pp. 106-112. Date of Electronic Publication: 2021 Sep 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Phenotype*
Gene Frequency/*genetics
Genetic Predisposition to Disease/*genetics
Mutation/*genetics
Parkinson Disease/*genetics
Receptors, Cell Surface/*genetics
Age of Onset ; Cohort Studies ; Exons/genetics ; Female ; Humans ; Introns/genetics ; Male ; Parkinson Disease/psychology ; Patient Acuity ; Risk ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł:
Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.
Autorzy:
Karaoğlan M; Department of Pediatric Endocrinology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey. .
Nacarkahya G; Department of Molecular Biology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
Aytaç EH; Department of Pediatric Endocrinology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
Keskin M; Department of Pediatric Endocrinology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
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Źródło:
Journal of endocrinological investigation [J Endocrinol Invest] 2021 Nov; Vol. 44 (11), pp. 2395-2405. Date of Electronic Publication: 2021 Mar 06.
Typ publikacji:
Journal Article
MeSH Terms:
Adrenal Hyperplasia, Congenital*/diagnosis
Adrenal Hyperplasia, Congenital*/epidemiology
Adrenal Hyperplasia, Congenital*/genetics
Adrenal Hyperplasia, Congenital*/physiopathology
Genetic Association Studies*/methods
Genetic Association Studies*/statistics & numerical data
Virilism*/diagnosis
Virilism*/etiology
Water-Electrolyte Imbalance*/diagnosis
Water-Electrolyte Imbalance*/etiology
Steroid 21-Hydroxylase/*genetics
Adolescent ; Female ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Humans ; Male ; Mineralocorticoids/metabolism ; Mutation ; Puberty, Precocious/diagnosis ; Puberty, Precocious/etiology ; Steroid 21-Hydroxylase/metabolism ; Turkey/epidemiology
Czasopismo naukowe
Tytuł:
Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity.
Autorzy:
Rossi MN; Laboratory of Immuno-Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Federici S; Division of Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Uva A; Division of Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Passarelli C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Celani C; Division of Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Caiello I; Laboratory of Immuno-Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Matteo V; Laboratory of Immuno-Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Petrocchi S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Mortari EP; Diagnostic Immunology Research Unit, Multimodal Medicine Research Area, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
De Benedetti F; Laboratory of Immuno-Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.; Division of Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Prencipe G; Laboratory of Immuno-Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
Insalaco A; Division of Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy.
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Źródło:
Frontiers in immunology [Front Immunol] 2022 Jan 26; Vol. 13, pp. 804401. Date of Electronic Publication: 2022 Jan 26 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Autoimmune Diseases/*diagnosis
Autoimmune Diseases/*etiology
Autoimmunity/*genetics
Tumor Necrosis Factor alpha-Induced Protein 3/*genetics
Alleles ; Family ; Genotype ; Humans ; Phenotype
Czasopismo naukowe
Tytuł:
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Autorzy:
Eygelaar D; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, 0001, South Africa.; Centre for Bioinformatics and Computational Biology, University of Pretoria, Pretoria, 0001, South Africa.; Genomics Research Institute, University of Pretoria, Pretoria, 0001, South Africa.
van Rensburg EJ; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, 0001, South Africa.; Genomics Research Institute, University of Pretoria, Pretoria, 0001, South Africa.; Genetics Division, University of Pretoria, Pretoria, 0001, South Africa.
Joubert F; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, 0001, South Africa. .; Centre for Bioinformatics and Computational Biology, University of Pretoria, Pretoria, 0001, South Africa. .; Genomics Research Institute, University of Pretoria, Pretoria, 0001, South Africa. .
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Źródło:
Scientific reports [Sci Rep] 2022 Jan 17; Vol. 12 (1), pp. 802. Date of Electronic Publication: 2022 Jan 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Breast Neoplasms/*genetics
Genetic Predisposition to Disease/*genetics
Germ-Line Mutation/*genetics
Adult ; Age Distribution ; BRCA2 Protein/genetics ; Blacks/genetics ; Cohort Studies ; Female ; Humans ; Middle Aged ; Risk ; South Africa ; Ubiquitin-Protein Ligases/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Autorzy:
Nagy D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.
Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Wigby KM; Department of Pediatrics, University of California, San Diego, CA 92161, USA.; Rady Children's Hospital-San Diego, Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Borovikov A; Research Centre for Medical Genetics, 115478 Moscow, Russia.
Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.
Slegesky V; Department of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Larson A; Department of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Institute of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Institute of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark.
Kibæk M; H C Andersen Children's Hospital, Odense University Hospital, 5000 Odense, Denmark.
Bader I; Institute of Human Genetics, University Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, A-5020 Salzburg, Austria.
Hernan R; Department of Pediatrics, Columbia University, Irving Medical Center, New York, NY 10032, USA.
High FA; Division of Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
Schieving JH; Department of Pediatric Neurology, Radboud University Hospital Nijmegen, 6525 Nijmegen, The Netherlands.
Behunova J; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
Smogavec M; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
Laccone F; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.
Witsch-Baumgartner M; Division of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
Zobel J; Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8036 Graz, Austria.
Duba HC; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.
Weis D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.
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Źródło:
Genes [Genes (Basel)] 2022 Jan 15; Vol. 13 (1). Date of Electronic Publication: 2022 Jan 15.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Association Studies*
Mutation*
Neurodevelopmental Disorders/*pathology
Transposases/*genetics
Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Neurodevelopmental Disorders/genetics ; Young Adult
Czasopismo naukowe

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