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Wyszukujesz frazę ""Genetic Association Studies"" wg kryterium: Temat


Tytuł:
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
Autorzy:
Güneş N; Cerrahpaşa Medical Faculty, Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
Yeşil G; Faculty of Medicine, Department of Medical Genetics, Bezmialem Vakif University, Istanbul, Turkey.
Geyik F; Cerrahpaşa Medical Faculty, Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
Kasap B; Cerrahpaşa Medical Faculty, Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
Celkan T; Cerrahpaşa Medical Faculty, Department of Pediatric Oncology, Istanbul University-Cerrahpaşa, Istanbul.
Kebudi R; Department of Pediatric Oncology, Istanbul University, Oncology Institute, Istanbul, Turkey.
Tüysüz B; Cerrahpaşa Medical Faculty, Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Istanbul, Turkey.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2021 Sep; Vol. 85 (5), pp. 155-165. Date of Electronic Publication: 2021 Apr 20.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Association Studies*
Neurofibromatosis 1/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Multiplex Polymerase Chain Reaction ; Retrospective Studies ; Turkey ; Young Adult
Czasopismo naukowe
Tytuł:
A role for the MEGF6 gene in predisposition to osteoporosis.
Autorzy:
Teerlink CC; Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Jurynec MJ; Department of Orthopaedics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Hernandez R; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Stevens J; Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Hughes DC; Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Rehabilitation Services, University of Utah Health, Salt Lake City, Utah, USA.
Brunker CP; Geriatrics, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Intermountain Healthcare, Salt Lake City, Utah, USA.
Rowe K; Intermountain Healthcare, Salt Lake City, Utah, USA.
Grunwald DJ; Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
Facelli JC; Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Cannon-Albright LA; Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.; George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah, USA.; Huntsman Cancer Institute, Salt Lake City, Utah, USA.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2021 Mar; Vol. 85 (2), pp. 58-72. Date of Electronic Publication: 2020 Oct 07.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Association Studies*
Genetic Predisposition to Disease*
Intercellular Signaling Peptides and Proteins/*genetics
Osteoporosis/*genetics
Aged ; Aged, 80 and over ; Animals ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Osteoporosis/pathology ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Exome Sequencing ; Zebrafish
Czasopismo naukowe
Tytuł:
Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments.
Autorzy:
Dabas G; Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Mahajan R; Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
De D; Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Handa S; Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Kumar R; Department of Paediatric Endocrinology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Dayal D; Department of Paediatric Endocrinology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Suthar R; Department of Paediatric Neurology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Panigrahi I; Department of Paediatric Genetics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
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Źródło:
Dermatologic therapy [Dermatol Ther] 2020 Nov; Vol. 33 (6), pp. e13816. Date of Electronic Publication: 2020 Jul 07.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Association Studies*
Ichthyosis*/diagnosis
Ichthyosis*/genetics
Ichthyosis*/therapy
Humans ; India/epidemiology ; Phenotype ; Retrospective Studies ; Tertiary Healthcare
Czasopismo naukowe
Tytuł:
SIRT1 gene polymorphisms are associated with nondiabetic type 1 cardiorenal syndrome.
Autorzy:
Hou J; Department of Nephrology, the Second Medical Centre, Chinese PLA (People's Liberation Army) General Hospital, Beijing, China.
Xie X; Division of Nephrology, Affiliated Hospital of Nantong University, Nantong, Jiangsu, China.
Tu Q; Department of Cardiology, The First People's Hospital of ZunYi, Zunyi, Guizhou, China.
Li J; Department of Cardiology, The First People's Hospital of ZunYi, Zunyi, Guizhou, China.
Ding J; Department of Nephrology, Shanghai Changhai Hospital, Shanghai, China.
Shao G; Department of Nephrology, Wenzhou Central Hospital, Wenzhou, Zhejiang, China.
Jiang Q; Department of Cardiology, The First People's Hospital of ZunYi, Zunyi, Guizhou, China.; The Third Affiiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, China.
Yuan L; Division of Nephrology, Affiliated Hospital of Nantong University, Nantong, Jiangsu, China.
Lai X; Department of Nephrology, Shanghai Changhai Hospital, Shanghai, China.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2019 Nov; Vol. 83 (6), pp. 445-453. Date of Electronic Publication: 2019 Jul 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Cardio-Renal Syndrome/*diagnosis
Cardio-Renal Syndrome/*genetics
Sirtuin 1/*genetics
Alleles ; Case-Control Studies ; Genome-Wide Association Study ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Odds Ratio ; Phenotype
Czasopismo naukowe
Tytuł:
Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family.
Autorzy:
Abi Zamer B; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Mahfood M; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Saleh B; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Al Mutery AF; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Molecular Genetics Research Laboratory, University of Sharjah, Sharjah, United Arab Emirates.
Tlili A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Molecular Genetics Research Laboratory, University of Sharjah, Sharjah, United Arab Emirates.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2019 Nov; Vol. 83 (6), pp. 472-476. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, Dominant*
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Mutation*
Desmoglein 1/*genetics
Keratoderma, Palmoplantar/*diagnosis
Keratoderma, Palmoplantar/*genetics
Alleles ; Consanguinity ; Female ; Genotype ; Humans ; Male ; Pedigree ; Syria
Czasopismo naukowe
Tytuł:
Whole-exome sequencing suggests multiallelic inheritance for childhood-onset Ménière's disease.
Autorzy:
Skarp S; Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
Kanervo L; Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.
Kotimäki J; Department of Otorhinolaryngology, Kainuu Central Hospital, Kajaani, Finland.
Sorri M; Department of Otorhinolaryngology and Head and Neck Surgery, Oulu University Hospital, Finland & PEDEGO Research Unit, University of Oulu, Oulu, Finland.
Männikkö M; Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.; Infrastructure for Population Studies, Faculty of Medicine, University of Oulu, Oulu, Finland.
Hietikko E; Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2019 Nov; Vol. 83 (6), pp. 389-396. Date of Electronic Publication: 2019 May 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alleles*
Genetic Association Studies*
Genetic Predisposition to Disease*
Inheritance Patterns*
Exome Sequencing*
Meniere Disease/*diagnosis
Meniere Disease/*genetics
Age of Onset ; Child ; Chromosome Mapping ; Computational Biology/methods ; Female ; Finland ; Genomics/methods ; Humans ; Magnetic Resonance Imaging ; Male ; Meniere Disease/epidemiology ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Symptom Assessment
Czasopismo naukowe
Tytuł:
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Autorzy:
Gul H; Department of Biological Sciences, Faculty of Sciences, Gomal University, D.I. Khan, Pakistan.
Shah AH; Department of Biological Sciences, Faculty of Sciences, Gomal University, D.I. Khan, Pakistan.
Harripaul R; Molecular Neuro-Psychiatry and Development Lab (MiND), Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, Canada.
Mikhailov A; Molecular Neuro-Psychiatry and Development Lab (MiND), Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, Canada.
Prajapati K; Molecular Neuro-Psychiatry and Development Lab (MiND), Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, Canada.
Khan E; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.
Ullah F; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.
Zubair M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.; Department of Cell and Developmental Biology, School of Life Sciences, University of Science and Technology, Hefei, China.
Ali MZ; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.
Shah AH; Department of Biological Sciences, Faculty of Sciences, Gomal University, D.I. Khan, Pakistan.
Salman S; Department of Plant Breeding and Genetics, Ghazi University, D.G. Khan, Pakistan.
Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan.
Vincent JB; Molecular Neuro-Psychiatry and Development Lab (MiND), Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada.
Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Pakistan.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2019 Jul; Vol. 83 (4), pp. 278-284. Date of Electronic Publication: 2019 Mar 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Consanguinity*
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Albinism, Oculocutaneous/*diagnosis
Albinism, Oculocutaneous/*genetics
Alleles ; DNA Copy Number Variations ; DNA Mutational Analysis ; Homozygote ; Humans ; Pakistan ; Pedigree ; Phenotype ; Exome Sequencing
Czasopismo naukowe
Tytuł:
Regions of homozygosity as risk factors for multiple myeloma.
Autorzy:
Went M; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.; Division of Molecular Pathology, The Institute of Cancer Research, London, UK.
Sud A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Li N; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Johnson DC; Division of Molecular Pathology, The Institute of Cancer Research, London, UK.
Mitchell JS; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Kaiser M; Division of Molecular Pathology, The Institute of Cancer Research, London, UK.
Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2019 Jul; Vol. 83 (4), pp. 231-238. Date of Electronic Publication: 2019 Feb 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alleles*
Genetic Association Studies*
Genetic Predisposition to Disease*
Homozygote*
Multiple Myeloma/*diagnosis
Multiple Myeloma/*genetics
Aged ; Case-Control Studies ; Genome-Wide Association Study ; Genotype ; Humans ; Middle Aged ; Polymorphism, Single Nucleotide ; Risk Assessment ; Risk Factors
Czasopismo naukowe
Tytuł:
Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Autorzy:
Martin-Rodriguez S; Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.
Calvo-Ferrer A; Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.
Ortega-Unanue N; Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.
Samaniego-Jimenez L; Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.
Sanz-Izquierdo MP; Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.
Bernardo-Gonzalez I; Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2019 Jul; Vol. 83 (4), pp. 266-273. Date of Electronic Publication: 2019 Mar 19.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Gene Duplication*
Genetic Association Studies*
Genetic Predisposition to Disease*
Genetic Variation*
Ataxia Telangiectasia/*diagnosis
Ataxia Telangiectasia/*genetics
Ataxia Telangiectasia Mutated Proteins/*genetics
Alleles ; Biomarkers ; Child, Preschool ; DNA Copy Number Variations ; Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Magnetic Resonance Imaging ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Using potential variable to study gene-gene and gene-environment interaction effects with genetic model uncertainty.
Autorzy:
Hu X; NCMIS, Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China.
Meng Z; School of Statistics, Capital University of Economics and Business, Beijing, China.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2022 Sep; Vol. 86 (5), pp. 257-267. Date of Electronic Publication: 2022 May 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene-Environment Interaction*
Models, Genetic*
Genetic Association Studies ; Genotype ; Humans ; Uncertainty
Czasopismo naukowe
Tytuł:
Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.
Autorzy:
Broadgate S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Kiire C; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Eye Hospital, John Radcliffe Hospital, Oxford University NHS Foundation Trust, Oxford, UK.
Halford S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Chong V; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2018 Apr; Vol. 96 Suppl A111, pp. 1-51.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Association Studies*
Diabetic Retinopathy/*genetics
Macular Edema/*genetics
Diabetes Mellitus, Type 1/complications ; Diabetes Mellitus, Type 2/complications ; Diabetic Retinopathy/etiology ; Genetic Testing ; Humans ; Macular Edema/etiology ; Tomography, Optical Coherence
Czasopismo naukowe
Tytuł:
Independent associations of TOMM40 and APOE variants with body mass index.
Autorzy:
Kulminski AM; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North California.
Loika Y; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North California.
Culminskaya I; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North California.
Huang J; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North California.
Arbeev KG; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North California.
Bagley O; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North California.
Feitosa MF; Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St Louis, Missouri.
Zmuda JM; Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Christensen K; The Danish Aging Research Center, University of Southern Denmark, Odense C, Denmark.
Yashin AI; Biodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North California.
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Corporate Authors:
Long Life Family Study Research Group
Źródło:
Aging cell [Aging Cell] 2019 Feb; Vol. 18 (1), pp. e12869. Date of Electronic Publication: 2018 Nov 21.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Body Mass Index*
Genetic Association Studies*
Apolipoproteins E/*genetics
Membrane Transport Proteins/*genetics
Polymorphism, Single Nucleotide/*genetics
Adult ; Aged ; Aged, 80 and over ; Aging/genetics ; Cohort Studies ; Genotype ; Humans ; Linkage Disequilibrium/genetics ; Middle Aged ; Mitochondrial Precursor Protein Import Complex Proteins ; Multivariate Analysis
Czasopismo naukowe
Tytuł:
Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
Autorzy:
Ghaffari M; Departement of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Tahmasebi Birgani M; Departement of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Kariminejad R; kariminejad-najmabadi pathology and genetics center, Tehran, Iran.
Saberi A; Departement of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2018 Nov; Vol. 82 (6), pp. 469-476. Date of Electronic Publication: 2018 Aug 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosome Duplication*
Genetic Association Studies*
Chromosomes, Human, Pair 7/*genetics
Williams Syndrome/*genetics
Child ; Child, Preschool ; Comparative Genomic Hybridization ; Female ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Microsatellite Repeats ; Phenotype
Czasopismo naukowe
Tytuł:
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
Autorzy:
Wang L; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Qiu YL; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xu HM; Department of Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, China.
Zhu J; Department of Infectious Diseases, Children's Hospital of Chongqing Medical University, Chongqing, China.
Li SJ; Department of Hepatopathy, Hunan Children's Hospital, Changsha, China.
OuYang WX; Department of Hepatopathy, Hunan Children's Hospital, Changsha, China.
Yang YF; Department of Hepatology, The Second Hospital of Nanjing, Nanjing, China.
Lu Y; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xie XB; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xing QH; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
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Źródło:
Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2022 Feb; Vol. 42 (2), pp. 402-411. Date of Electronic Publication: 2021 Nov 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mucolipidoses*/genetics
Mucolipidoses*/pathology
Myosin Heavy Chains*/genetics
Myosin Type V*/genetics
Cholestasis, Intrahepatic/*genetics
Genetic Association Studies ; Humans ; Liver/pathology ; Mutation
Czasopismo naukowe
Tytuł:
Fast permutation tests and related methods, for association between rare variants and binary outcomes.
Autorzy:
Sondhi A; Department of Biostatistics, University of Washington, Seattle, WA, USA.
Rice KM; Department of Biostatistics, University of Washington, Seattle, WA, USA.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2018 Mar; Vol. 82 (2), pp. 93-101. Date of Electronic Publication: 2017 Dec 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genetic Association Studies*
Models, Genetic*
Case-Control Studies ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects ; Likelihood Functions ; Models, Statistical ; Rhabdomyolysis/chemically induced ; Rhabdomyolysis/genetics
Czasopismo naukowe
Tytuł:
Genotype-phenotype correlation in von Hippel-Lindau disease.
Autorzy:
Reich M; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Jaegle S; Institute of Human Genetics, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Neumann-Haefelin E; Department of Medicine IV, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Klingler JH; Department of Neurosurgery, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Evers C; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Daniel M; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Bucher F; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Ludwig F; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Nuessle S; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Kopp J; Institute of Human Genetics, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Boehringer D; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Reinhard T; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Lagrèze WA; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Lange C; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Agostini H; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Lang SJ; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2021 Dec; Vol. 99 (8), pp. e1492-e1500. Date of Electronic Publication: 2021 Mar 15.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Genetic Predisposition to Disease*
Genetic Association Studies/*methods
Hemangioblastoma/*etiology
Retina/*diagnostic imaging
Retinal Neoplasms/*etiology
von Hippel-Lindau Disease/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; DNA Mutational Analysis ; Female ; Fluorescein Angiography/methods ; Follow-Up Studies ; Fundus Oculi ; Germany/epidemiology ; Hemangioblastoma/diagnosis ; Hemangioblastoma/epidemiology ; Humans ; Male ; Middle Aged ; Morbidity/trends ; Mutation ; Retinal Neoplasms/diagnosis ; Retinal Neoplasms/epidemiology ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Von Hippel-Lindau Tumor Suppressor Protein/genetics ; Von Hippel-Lindau Tumor Suppressor Protein/metabolism ; Young Adult ; von Hippel-Lindau Disease/complications ; von Hippel-Lindau Disease/epidemiology
Czasopismo naukowe
Tytuł:
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Autorzy:
Galbis-Martínez L; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Blanco-Kelly F; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
García-García G; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Ávila-Fernández A; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Jaijo T; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Fuster-García C; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Perea-Romero I; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Zurita-Muñoz O; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Jimenez-Rolando B; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.
Carreño E; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.
García-Sandoval B; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.
Millán JM; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Ayuso C; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2021 Dec; Vol. 99 (8), pp. 922-930. Date of Electronic Publication: 2021 Feb 11.
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Clinical Trials as Topic*
Mutation, Missense*
DNA/*genetics
Genetic Association Studies/*methods
Myosin VIIa/*genetics
Usher Syndromes/*genetics
Adolescent ; Adult ; Aged ; Child ; DNA Mutational Analysis ; Female ; Fluorescein Angiography/methods ; Fundus Oculi ; Genotype ; Humans ; Male ; Middle Aged ; Myosin VIIa/metabolism ; Pedigree ; Phenotype ; Retina/diagnostic imaging ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Usher Syndromes/diagnosis ; Young Adult
Czasopismo naukowe
Tytuł:
Gene-based association analysis identified a novel gene associated with systemic lupus erythematosus.
Autorzy:
Ding X; Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
Cai M; Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
Wang S; Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
Yang Q; Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
Zheng X; Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
Zuo X; Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
Liu S; Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2021 Nov; Vol. 85 (6), pp. 213-220. Date of Electronic Publication: 2021 Jun 18.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Predisposition to Disease*
Lupus Erythematosus, Systemic/*genetics
Adult ; Asian People ; Case-Control Studies ; China ; Genetic Association Studies ; Humans ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Associations between the CADM2 gene, substance use, risky sexual behavior, and self-control: A phenome-wide association study.
Autorzy:
Arends RM; Department of Psychiatry, Radboud University Medical Center, The Netherlands.; Donders Center for Medical Neuroscience, Donders Institute for Brain, Cognition and Behavior, The Netherlands.; Tactus Addiction Care, The Netherlands.
Pasman JA; Behavioural Science Institute, Radboud University, The Netherlands.
Verweij KJH; Faculty of Medicine, Amsterdam Medical Centre and University of Amsterdam, The Netherlands.
Derks EM; Genetic Epidemiology, Statistical Genetics and Translational Neurogenomics Laboratories, QIMR Berghofer Medical Research Institute, Australia.
Gordon SD; Genetic Epidemiology, Statistical Genetics and Translational Neurogenomics Laboratories, QIMR Berghofer Medical Research Institute, Australia.
Hickie I; Brain and Mind Centre, University of Sydney, Australia.
Thomas NS; Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA.
Aliev F; Faculty of Business, Karbük University, Turkey.; Department of African American Studies, Virginia Commonwealth University, Richmond, VA, USA.
Zietsch BP; School of Medicine and School of Psychology, University of Queensland, Australia.
van der Zee MD; Department of Biological Psychology, Vrije Universiteit Amsterdam, The Netherlands.; Netherlands Twin Register, The Netherlands.
Mitchell BL; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Australia.; School of Biomedical Sciences and Institute of Health and Biomedical Innovation, Queensland University of Technology, Australia.
Martin NG; Genetic Epidemiology, Statistical Genetics and Translational Neurogenomics Laboratories, QIMR Berghofer Medical Research Institute, Australia.; School of Medicine and School of Psychology, University of Queensland, Australia.
Dick DM; Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA.
Gillespie NA; Genetic Epidemiology, Statistical Genetics and Translational Neurogenomics Laboratories, QIMR Berghofer Medical Research Institute, Australia.; School of Medicine and School of Psychology, University of Queensland, Australia.; Virginia Institute for Psychiatric and Behavior Genetics, Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA.
de Geus EJC; Faculty of Medicine, Amsterdam Medical Centre and University of Amsterdam, The Netherlands.; Netherlands Twin Register, The Netherlands.
Boomsma DI; Faculty of Medicine, Amsterdam Medical Centre and University of Amsterdam, The Netherlands.; Department of Biological Psychology, Vrije Universiteit Amsterdam, The Netherlands.; Netherlands Twin Register, The Netherlands.
Schellekens AFA; Department of Psychiatry, Radboud University Medical Center, The Netherlands.; Donders Center for Medical Neuroscience, Donders Institute for Brain, Cognition and Behavior, The Netherlands.; Nijmegen Institute for Scientist-Practitioners in Addiction, The Netherlands.
Vink JM; Behavioural Science Institute, Radboud University, The Netherlands.
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Źródło:
Addiction biology [Addict Biol] 2021 Nov; Vol. 26 (6), pp. e13015. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
Risk-Taking*
Self-Control*
Sexual Behavior*
Cell Adhesion Molecules/*genetics
Substance-Related Disorders/*genetics
Adult ; Alcohol Drinking/genetics ; Female ; Genetic Association Studies ; Humans ; Male ; Netherlands ; Polymorphism, Single Nucleotide ; Smoking/genetics ; Sociodemographic Factors
Czasopismo naukowe
Tytuł:
A genome-wide association study reveals additive and dominance effects on growth and fatness traits in large white pigs.
Autorzy:
Yang W; College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
Wu J; Beijing Zhongyu Pig Breeding Co., Ltd, Beijing, 100194, China.
Yu J; College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
Zheng X; College of Animal Science and Technology, Anhui Agricultural University, Hefei, 230036, China.
Kang H; School of Life Science and Engineering, Foshan University, Foshan, Guangdong, 528231, China.
Wang Z; Beijing Zhongyu Pig Breeding Co., Ltd, Beijing, 100194, China.
Zhang S; College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
Zhou L; College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
Liu J; College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.
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Źródło:
Animal genetics [Anim Genet] 2021 Oct; Vol. 52 (5), pp. 749-753. Date of Electronic Publication: 2021 Aug 17.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, Dominant*
Adiposity/*genetics
Sus scrofa/*genetics
Sus scrofa/*growth & development
Animals ; China ; Genetic Association Studies/veterinary ; Genotype ; Models, Genetic ; Phenotype ; Polymorphism, Single Nucleotide
Czasopismo naukowe

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