Výsledky vyhľadávania - "Inheritance Patterns - Genetics"

Modulation of Shoot Phosphate Level and Growth by PHOSPHATE1 Upstream Open Reading Frame

Autori: Rodrigo S. Reis Jules Deforges Tatiana Sokoloff a ďalší

Zdroj: Plant physiology, vol. 183, no. 3, pp. 1145-1156

Predmety: Ecotype, 2. Zero hunger, 0106 biological sciences, 0301 basic medicine, Arabidopsis/genetics, Arabidopsis Proteins/genetics, Arabidopsis Proteins/metabolism, Base Sequence, Gene Deletion, Gene Expression Regulation, Plant, Inheritance Patterns/genetics, Open Reading Frames/genetics, Phosphates/deficiency, Phosphates/metabolism, Plant Shoots/metabolism, Protein Biosynthesis, RNA, Messenger/genetics, RNA, Messenger/metabolism, Arabidopsis Proteins, Arabidopsis, Inheritance Patterns, 01 natural sciences, Phosphates, Open Reading Frames, 03 medical and health sciences, RNA, Messenger, Plant Shoots

Popis súboru: application/pdf

Prístupová URL adresa: https://academic.oup.com/plphys/article-pdf/183/3/1145/37280858/plphys_v183_3_1145.pdf
https://pubmed.ncbi.nlm.nih.gov/32327548
https://www.scilit.net/article/12ae431f116fe690ded09cd041a04d5b?action=show-references
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333697
https://pubmed.ncbi.nlm.nih.gov/32327548/
https://academic.oup.com/plphys/article/183/3/1145/6116379
http://www.plantphysiol.org/content/183/3/1145
http://www.plantphysiol.org/content/plantphysiol/early/2020/04/23/pp.19.01549.full.pdf
https://serval.unil.ch/notice/serval:BIB_22AE09E8C47E
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_22AE09E8C47E1
https://serval.unil.ch/resource/serval:BIB_22AE09E8C47E.P001/REF.pdf

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Autori: Melissa Lees Marielle Alders Alex Henderson a ďalší

Prispievatelia: Melissa Lees Marielle Alders Alex Henderson a ďalší

Zdroj: Am J Hum Genet
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6

Predmety: Tousled-like, Facial Averaging, Haploinsufficiency, Intellectual Disability, Kinase, Male, 0301 basic medicine, Biomedical and clinical sciences, Messenger, Intellectual disability, Medizin, Inheritance Patterns, Protein Kinases/genetics, Neurodevelopmental Disorders/genetics, Medical and Health Sciences, Translocation, Genetic, Loss of Function Mutation/genetics, Loss of Function Mutation, 2.1 Biological and endogenous factors, Genetics(clinical), Facial averaging, Aetiology, Child, Genetics & Heredity, 0303 health sciences, Biological Sciences, Deciphering Developmental Disorders Study, ddc, 3. Good health, Biological sciences, intellectual disability, Child, Preschool, Female, facial averaging, Biotechnology, EMC NIHES-01-50-01-A, Adult, GENES, Adolescent, kinase, Bioinformatics and Computational Biology, Translocation, Cell Line, Young Adult, 03 medical and health sciences, Genetic, Clinical Research, Report, Genetics, Humans, RNA, Messenger, Preschool, Genetic Association Studies, Biomedical and Clinical Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Base Sequence, TOUSLED-LIKE KINASES, MUTATIONS, Human Genome, Neurosciences, Health sciences, Facies, Infant, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences, Brain Disorders, Inheritance Patterns/genetics, haploinsufficiency, Neurodevelopmental Disorders, 13. Climate action, RNA, Messenger/genetics, Human Genetics - Radboud University Medical Center, Protein Kinases

Popis súboru: application/pdf; image/pdf; text

Prístupová URL adresa: http://www.cell.com/article/S0002929718301617/pdf
https://pubmed.ncbi.nlm.nih.gov/29861108
https://openaccess.sgul.ac.uk/id/eprint/109920/1/1-s2.0-S0002929718301617-main.pdf
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/193340
https://doi.org/10.1016/j.ajhg.2018.04.014
https://pure.eur.nl/en/publications/aab3cd86-64af-4318-91ef-24d126e30d2c
https://doi.org/10.1016/j.ajhg.2018.04.014
https://repub.eur.nl/pub/107127
https://europepmc.org/articles/PMC5992133
https://escholarship.org/uc/item/9sv477rx
https://www.sciencedirect.com/science/article/pii/S0002929718301617
https://www.research.manchester.ac.uk/portal/en/publications/de-novo-and-inherited-lossoffunction-variants-in-tlk2(fe8b212f-2503-46bf-be54-a78ca9142a90)/export.html
https://www.narcis.nl/publication/RecordID/oai%3Adspace.library.uu.nl%3A1874%2F377026
https://dspace.library.uu.nl/handle/1874/377026
https://hdl.handle.net/1887/79379
https://hdl.handle.net/2066/193340
https://repository.ubn.ru.nl//bitstream/handle/2066/193340/193340.pdf
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53604
http://www.scopus.com/inward/record.url?scp=85047438525&partnerID=8YFLogxK
https://doi.org/10.1016/j.ajhg.2018.04.014
https://research.manchester.ac.uk/en/publications/fe8b212f-2503-46bf-be54-a78ca9142a90
https://escholarship.org/uc/item/9sv477rx
https://escholarship.org/content/qt9sv477rx/qt9sv477rx.pdf
https://eprints.soton.ac.uk/421446/
https://mediatum.ub.tum.de/1531187

Functional genomics atlas of synovial fibroblasts defining rheumatoid arthritis heritability

Autori: Tadeja Kuret Amanda McGovern Katja Klein a ďalší

Prispievatelia: Tadeja Kuret Amanda McGovern Katja Klein a ďalší

Zdroj: Genome Biol
Genome Biology, Vol 22, Iss 1, Pp 1-39 (2021)
Ge, X, Frank-Bertoncelj, M, Klein, K, McGovern, A, Kuret, T, Houtman, M, Burja, B, Micheroli, R, Shi, C, Marks, M, Filer, A, Buckley, C D, Orozco, G, Distler, O, Morris, A P, Martin, P, Eyre, S & Ospelt, C 2021, 'Functional genomics atlas of synovial fibroblasts defining rheumatoid arthritis heritability', Genome Biology, vol. 22, no. 1, 247, pp. 247. https://doi.org/10.1186/s13059-021-02460-6

Predmety: Male, 0301 basic medicine, Inheritance Patterns, Receptor, Interferon alpha-beta, QH426-470, Epigenesis, Genetic, 1307 Cell Biology, Arthritis, Rheumatoid, Risk Factors, Receptors, Databases, Genetic, Gene Regulatory Networks, Fibroblast-like synoviocytes, Biology (General), Receptor, Interferon alpha-beta/metabolism, 0303 health sciences, Interferon/metabolism, 10051 Rheumatology Clinic and Institute of Physical Medicine, Receptors, Interferon/metabolism, Rheumatoid/genetics, Functional genomics, Genomics, Arthritis, Rheumatoid/genetics, Middle Aged, Polymorphism, Single Nucleotide/genetics, Chromatin, 3. Good health, Enhancer Elements, Genetic, Tumor Necrosis Factor-alpha/pharmacology, Immunoglobulin J Recombination Signal Sequence-Binding Protein, Female, Single Nucleotide/genetics, Interferon alpha-beta/metabolism, Receptor, Adult, Enhancer Elements, QH301-705.5, 610 Medicine & health, Epigenesis, Genetic/drug effects, Polymorphism, Single Nucleotide, Chromatin/metabolism, Databases, Young Adult, 03 medical and health sciences, 1311 Genetics, Genetic, Gene Regulatory Networks/drug effects, Tumor Necrosis Factor alpha-Induced Protein 3/metabolism, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Rheumatoid arthritis, Stromal cells, Genetic/genetics, Probability, Genetic/drug effects, Base Sequence, Arthritis, Research, Enhancer Elements, Genetic/genetics, Reproducibility of Results, Synovial Membrane/pathology, Immunoglobulin J Recombination Signal Sequence-Binding Protein/genetics, Fibroblasts, Inheritance Patterns/genetics, Fibroblasts/drug effects, 1105 Ecology, Evolution, Behavior and Systematics, Epigenesis

Popis súboru: s13059-021-02460-6.pdf - application/pdf

Prístupová URL adresa: https://genomebiology.biomedcentral.com/track/pdf/10.1186/s13059-021-02460-6
https://pubmed.ncbi.nlm.nih.gov/34433485
https://doaj.org/article/8cd52096d8e14ee7b73e6f6f9def48f2
https://research.manchester.ac.uk/en/publications/87fb8d44-1e0c-43d9-a7b8-77fd425ac076
https://doi.org/10.1186/s13059-021-02460-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385949
https://link.springer.com/content/pdf/10.1186/s13059-021-02460-6.pdf
https://www.zora.uzh.ch/id/eprint/206317/1/s13059-021-02460-6.pdf
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-021-02460-6
https://www.zora.uzh.ch/id/eprint/206317/
https://pubmed.ncbi.nlm.nih.gov/34433485/
https://www.zora.uzh.ch/id/eprint/206317/
https://doi.org/10.5167/uzh-206317

Environmental induced transgenerational inheritance impacts systems epigenetics in disease etiology

Autori: Beck, Daniel Nilsson, Eric E Ben Maamar, Millissia a ďalší

Predmety: DNA Methylation, Epigenesis, Genetic, Inheritance Patterns - genetics, Rats, Sprague-Dawley, Spermatozoa - metabolism

Popis súboru: pdf

Relation: ispartof: Scientific reports spage 5452 epage 5452 issue 1 vol 12; PMC9018793; WOS:000783915800057; 99901080309001842; https://rex.libraries.wsu.edu/view/delivery/01ALLIANCE_WSU/12406256560001842/13406177610001842; alma:01ALLIANCE_WSU/bibs/99901080309001842

Dostupnosť: https://doi.org/10.1038/s41598-022-09336-0
https://rex.libraries.wsu.edu/esploro/outputs/journalArticle/Environmental-induced-transgenerational-inheritance-impacts-systems/99901080309001842
https://rex.libraries.wsu.edu/view/delivery/01ALLIANCE_WSU/12406256560001842/13406177610001842

DNA methylation in epigenetic inheritance of metabolic diseases through the male germ line

Autori: Stine Thorhauge Bak Sten Lund Anders Lade Nielsen a ďalší

Zdroj: Illum, L R, Bak, S T, Lund, S & Nielsen, A L 2018, 'DNA methylation in epigenetic inheritance of metabolic diseases through the male germ line', Journal of Molecular Endocrinology, vol. 60, no. 2, pp. R39-R56. https://doi.org/10.1530/JME-17-0189

Predmety: Male, 0301 basic medicine, 2. Zero hunger, Spermatozoa/metabolism, Base Sequence, Inheritance Patterns, DNA Methylation, Spermatozoa, Inheritance Patterns/genetics, Epigenesis, Genetic, 03 medical and health sciences, Germ Cells/metabolism, Germ Cells, Metabolic Diseases, Animals, Humans, Metabolic Diseases/genetics, DNA Methylation/genetics

Prístupová URL adresa: https://jme.bioscientifica.com/downloadpdf/journals/jme/60/2/JME-17-0189.pdf
https://pubmed.ncbi.nlm.nih.gov/29203518
http://jme.bioscientifica.com/view/journals/jme/60/2/JME-17-0189.xml
https://jme.bioscientifica.com/downloadpdf/journals/jme/60/2/JME-17-0189.pdf
https://www.ncbi.nlm.nih.gov/pubmed/29203518
https://jme.bioscientifica.com/view/journals/jme/60/2/JME-17-0189.xml
https://pubmed.ncbi.nlm.nih.gov/29203518/
https://europepmc.org/article/MED/29203518

The contribution of X-linked coding variation to severe developmental disorders

Autori: Briggs, Tracy

Zdroj: Deciphering Developmental Disorders Study & Briggs, T 2021, 'The contribution of X-linked coding variation to severe developmental disorders', Nature Communications, vol. 12, no. 1, 627. https://doi.org/10.1038/s41467-020-20852-3

Predmety: Chromosomes, Human, X/genetics, Developmental Disabilities/genetics, Female, Genes, Recessive, X-Linked, Genetic Diseases, X-Linked/genetics, Genetic Variation, Humans, Inheritance Patterns/genetics, Male, Multifactorial Inheritance/genetics, Mutation/genetics, Phenotype, Sex Characteristics

Popis súboru: application/pdf

Dostupnosť: https://research.manchester.ac.uk/en/publications/f6570c6e-13b0-40e2-9448-28afa04b8f48
https://doi.org/10.1038/s41467-020-20852-3
https://pure.manchester.ac.uk/ws/files/195419328/s41467_020_20852_3.pdf

Estimation of genetic correlation using linkage disequilibrium score regression and genomic restricted maximum likelihood

Autori: Ni, Guiyan Moser, Gerhard Ripke, Stephan a ďalší

Prispievatelia: Ni, Guiyan Moser, Gerhard Ripke, Stephan a ďalší

Zdroj: American journal of human genetics
The American Journal of Human Genetics
The American journal of human genetics 102(6), 1185-1194 (2018). doi:10.1016/j.ajhg.2018.03.021
American journal of human genetics, vol 102, iss 6
Agerbo, E & Schizophrenia Working Group of the Psychiatric Genomics Consortium 2018, 'Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood', American Journal of Human Genetics, vol. 102, no. 6, pp. 1185-1194. https://doi.org/10.1016/j.ajhg.2018.03.021

Predmety: 0301 basic medicine, Biomedical and clinical sciences, Schizophrenia/genetics, Inheritance Patterns, linkage disequilibrium score regression, Linkage disequilibrium score regression, Medical and Health Sciences, Linkage Disequilibrium, biasedness, Databases, Genetic, Accuracy, Body mass index, Genetics & Heredity, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Likelihood Functions, 0303 health sciences, Genome, Body Height/genetics, accuracy, Single Nucleotide, Biological Sciences, genetic correlation, genomic restricted maximum likelihood, Statistical and quantitative genetics, Biological sciences, Mental Health, Phenotype, Genomic restricted maximum likelihood, Regression Analysis, Single Nucleotide/genetics, Human, Adult, 2716 Genetics (clinical), Genetic correlation, Genotype, SNP heritability, body mass index, genome-wide SNPs, height, schizophrenia, Haplotypes/genetics, Polymorphism, Single Nucleotide, Biasedness, Databases, 03 medical and health sciences, 1311 Genetics, Genetic, Genetics, Humans, Linkage Disequilibrium/genetics, Computer Simulation, Polymorphism, linkage disequilibrium score regression (LDSC), Genome-wide SNPs, Body Height, Haplotypes, Schizophrenia, Genome, Human, Genetics (clinical), Height, Human Genome, genetic architecture, Brain Disorders, Inheritance Patterns/genetics

Popis súboru: application/pdf

Prístupová URL adresa: http://www.cell.com/article/S0002929718301101/pdf
https://pubmed.ncbi.nlm.nih.gov/29754766
http://livrepository.liverpool.ac.uk/3023568/2/GN_simulation_maintext_20180319_clean2biorxiv.pdf
https://researchonline.lshtm.ac.uk/id/eprint/4654104/1/GN_simulation_maintext.pdf
http://livrepository.liverpool.ac.uk/3021931/1/194019.full.pdf
https://hdl.handle.net/1871.1/41ee56a1-47fc-4e4b-9ee2-d91677643fd8
https://doi.org/10.1016/j.ajhg.2018.03.021
https://research.vu.nl/en/publications/41ee56a1-47fc-4e4b-9ee2-d91677643fd8
https://www.biorxiv.org/content/biorxiv/early/2017/09/27/194019.full.pdf
https://www.biorxiv.org/content/early/2017/09/27/194019
https://www.biorxiv.org/content/10.1101/194019v1
https://www.ncbi.nlm.nih.gov/pubmed/29754766
https://findanexpert.unimelb.edu.au/scholarlywork/1329037-estimation-of-genetic-correlation-via-linkage-disequilibrium-score-regression-and-genomic-restricted-maximum-likelihood
https://europepmc.org/abstract/MED/29754766
http://www.cell.com/ajhg/abstract/S0002-9297(18)30110-1
https://research.vu.nl/ws/files/83592932/Estimation_of_Genetic_Correlation_via_Linkage_Disequilibrium_Score_Regression_and_Genomic_Restricted_Maximum_Likelihood.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993419
https://hdl.handle.net/11541.2/132138
https://hdl.handle.net/11562/985714
https://doi.org/10.1016/j.ajhg.2018.03.021
https://juser.fz-juelich.de/record/858623
https://discovery-pp.ucl.ac.uk/id/eprint/10122338/
https://escholarship.org/uc/item/2w3550cp
https://hdl.handle.net/2262/89880
http://people.tcd.ie/acorvin
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993419/pdf/main.pdf
http://www.scopus.com/inward/record.url?scp=85046126170&partnerID=8YFLogxK
https://pure.au.dk/portal/en/publications/a4179653-f337-4d6e-bfab-59f8c0d2728e
https://www.sciencedirect.com/science/article/pii/S0002929718301101/pdfft?md5=13b889d303fbce895ce9370363da8e29&pid=1-s2.0-S0002929718301101-main.pdf
https://doi.org/10.1016/j.ajhg.2018.03.021

Resistance to Multiple Soil-Borne Pathogens of the Pacific Northwest, USA Is Colocated in a Wheat Recombinant Inbred Line Population

Autori: Thompson, Alison L Mahoney, Aaron K Smiley, Richard W a ďalší

Zdroj: G3 (Bethesda)
G3: Genes, Genomes, Genetics, Vol 7, Iss 4, Pp 1109-1116 (2017)

Predmety: 0301 basic medicine, Northwestern United States, Quantitative Trait Loci, Statistics as Topic, Inheritance Patterns, QH426-470, Investigations, marker-assisted selection, 03 medical and health sciences, Genetic, Inheritance Patterns - genetics, Disease Resistance - genetics, Genetics, Triticum - microbiology, Quantitative Trait Loci - genetics, Inbreeding, Soil Microbiology, Triticum, Disease Resistance, Plant Diseases, Recombination, Genetic, 2. Zero hunger, 0303 health sciences, plant pathology, Triticum - genetics, 16. Peace & justice, Recombination, Triticum - immunology, Phenotype, breeding, Plant Diseases - microbiology

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/28159864
https://doaj.org/article/ecbb73fb01a34e0db03dd5ec5e1c0abd
https://pubmed.ncbi.nlm.nih.gov/28159864/
https://www.g3journal.org/content/early/2017/02/01/g3.116.038604
https://europepmc.org/articles/PMC5386859
https://academic.oup.com/g3journal/article/7/4/1109/6031790
https://www.ncbi.nlm.nih.gov/pubmed/28159864
https://core.ac.uk/display/90821442

Genetics: biased transmission of genomes according to parents of origin.

Autori: Keller, L.

Predmety: Animals, Ants/genetics, Chromosome Segregation/genetics, Female, Genetics, Population, Genome/genetics, Inheritance Patterns/genetics, Sex Factors

Popis súboru: application/pdf

Relation: Current Biology; https://iris.unil.ch/handle/iris/87792; serval:BIB_04D417DF78FB; 000280433100013

Dostupnosť: https://iris.unil.ch/handle/iris/87792
https://doi.org/10.1016/j.cub.2010.05.048

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Autori: Enda M. Byrne Inês Barroso Sophie H. Van Wingerden a ďalší

Prispievatelia: Enda M. Byrne Inês Barroso Sophie H. Van Wingerden a ďalší

Zdroj: Nature Genetics; Vol 42
Nature Genetics
Nature Genetics, vol. 42, no. 12, pp. 1077-1085
Elks, C E, Perry, J R B, Sulem, P, Chasman, D I, Franceschini, N, He, C, Lunetta, K L, Visser, J A, Byrne, E M, Cousminer, D L, Gudbjartsson, D F, Esko, T, Feenstra, B, Hottenga, J-J, Koller, D L, Kutalik, Z, Lin, P, Mangino, M, Marongiu, M, McArdle, P F, Smith, A V, Stolk, L, van Wingerden, S H, Zhao, J H, Albrecht, E, Corre, T, Ingelsson, E, Hayward, C, Magnusson, P K E, Smith, E N, Ulivi, S, Warrington, N M, Zgaga, L, Alavere, H, Amin, N, Aspelund, T, Bandinelli, S, Barroso, I, Berenson, G S, Bergmann, S, Blackburn, H, Boerwinkle, E, Buring, J E, Busonero, F, Campbell, H, Chanock, S J, Navarro, P, Rudan, I & Wilson, J F & Wright, A F 2010, ' Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies ', Nature Genetics, vol. 42, no. 12, pp. 1077-85 . https://doi.org/10.1038/ng.714
Nature genetics

Predmety: Netherlands Twin Register (NTR), 0301 basic medicine, Aging, Body Height: genetic, Time Factors, Inheritance Patterns, Body Size: genetic, Genetic Loci: genetic, Body Size, Child, genome wide association study, DNA Copy Number Variation, 2. Zero hunger, 0303 health sciences, Adolescent, Body Height, DNA Copy Number Variations, Female, Genetic Loci, Genetic Predisposition to Disease, Humans, Menarche, Obesity, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Reproducibility of Results, Genome-Wide Association Study, Genetics, Menarche: genetic, Single Nucleotide, DNA Copy Number Variations: genetic, Human, Quantitative Trait Loci: genetic, Reproducibility of Result, Single Nucleotide: genetic, EMC MM-01-52-07, Sequence variants, 03 medical and health sciences, 1311 Genetics, age at menarche, Energy-balance, GIANT Consortium, Aging: physiology, Polymorphism, Inheritance Patterns: genetic, Inheritance Pattern, Puberty, Obesity: genetic, Body Height: genetics, Body Size: genetics, DNA Copy Number Variations: genetics, Genetic Loci: genetics, Inheritance Patterns: genetics, Menarche: genetics, Obesity: genetics, Quantitative Trait Loci: genetics, Single Nucleotide: genetics, EMC MM-01-39-04, Aging/physiology, Body Height/genetics, Body Size/genetics, DNA Copy Number Variations/genetics, Genetic Loci/genetics, Inheritance Patterns/genetics, Menarche/genetics, Obesity/genetics, Polymorphism, Single Nucleotide/genetics, Quantitative Trait Loci/genetics, Colaus Study, EMC MM-01-39-02

Popis súboru: STAMPA; application/pdf

Prístupová URL adresa: https://europepmc.org/articles/pmc3140055?pdf=render
https://pubmed.ncbi.nlm.nih.gov/21102462
https://www.bib.irb.hr/495472
https://doi.org/10.1038/ng.714
http://hdl.handle.net/11368/2489141
http://www.ncbi.nlm.nih.gov/pubmed/21102462
https://pure.eur.nl/en/publications/65bb56b8-c6a3-49bc-8ede-1b6045d29c2b
https://doi.org/10.1038/ng.714
https://hdl.handle.net/1871/34205
https://research.vu.nl/en/publications/d2edc720-9f36-4704-8bc5-8867f496837a
https://doi.org/10.1038/ng.714
http://www.nature.com/ng/journal/v42/n12/abs/ng.714.html
https://doi.org/10.1038/ng.714
http://www.tweelingenregister.org/fileadmin/user_upload/publicaties/verslaggeving/NTR-publicaties_2010/Elks_NG_2010_supplement.pdf
https://www.scholars.northwestern.edu/en/publications/thirty-new-loci-for-age-at-menarche-identified-by-a-meta-analysis
https://moh-it.pure.elsevier.com/en/publications/thirty-new-loci-for-age-at-menarche-identified-by-a-meta-analysis
https://arts.units.it/handle/11368/2489141
https://www.research.ed.ac.uk/en/publications/thirty-new-loci-for-age-at-menarche-identified-by-a-meta-analysis
http://www.julkari.fi/handle/10024/81038
https://hdl.handle.net/20.500.14243/45767
https://hdl.handle.net/11388/219115
http://www.nature.com/ng/index.html
https://doi.org/10.1038/ng.714
https://serval.unil.ch/resource/serval:BIB_1764CFBA5790.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1764CFBA57901
https://serval.unil.ch/notice/serval:BIB_1764CFBA5790
https://hdl.handle.net/20.500.11820/18626b31-d056-4fee-b1f4-295cf178d563
https://www.pure.ed.ac.uk/ws/files/8325475/Thirty_new_loci_for_age_at_menarche_identified_by_a_meta_analysis_of_genome_wide_association_studies.pdf
https://hdl.handle.net/11368/2489141
http://www.ncbi.nlm.nih.gov/pubmed/21102462
https://doi.org/10.1038/ng.714
https://hdl.handle.net/11584/88250
https://doi.org/10.1038/ng.714
https://publications.scilifelab.se/publication/e338b78c45024a2896fdcaa1073fc3ee

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Autori: Alice Goldenberg Audrey Guilmatre Peter Jacobson a ďalší

Prispievatelia: Alice Goldenberg Audrey Guilmatre Peter Jacobson a ďalší

Zdroj: Nature
Nature; Vol 463
Walters, R G, Jacquemont, S, Valsesia, A, de Smith, A J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J S, Chèvre, J-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J L, Boute, O, Holder-Espinasse, M, Cuisset, J-M, Lemaitre, M-P, Ambresin, A-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J-L, Le Caignec, C, David, A, Isidor, B, Cordier, M-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, E G, Henning, E, Keogh, J, Ellis, R J, Macdermot, K D, van Haelst, M M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A-L, McCarthy, M I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M E, O'Rahilly, S, Farooqi, I S, Männik, K, Jarvelin, M-R, Pattou, F, Meyre, D, Walley, A J, Coin, L J M, Blakemore, A I F, Froguel, P & Beckmann, J S 2010, 'A new highly penetrant form of obesity due to deletions on chromosome 16p11.2', Nature, vol. 463, no. 7281, pp. 671-5. https://doi.org/10.1038/nature08727
Nature, vol. 463, no. 7281, pp. 671-675

Predmety: Male, 0301 basic medicine, Aging, SAMPLE, Inheritance Patterns, Penetrance, MC4R, Body Mass Index, Cohort Studies, Pair 16/genetics, Age of Onset, Child, 2. Zero hunger, Sex Characteristics, 0303 health sciences, Adolescent Adult Age of Onset Aging Body Mass Index Case-Control Studies Child *Chromosome Deletion Chromosomes, Human, Pair 16/*genetics Cognition Disorders/complications/genetics Cohort Studies Europe Female Genome-Wide Association Study Heterozygote Humans Inheritance Patterns/genetics Male Mutation/genetics Obesity/complications/*genetics/*physiopathology *Penetrance Reproducibility of Results Sex Characteristics Young Adult, 3. Good health, Multidisciplinary Sciences, Europe, Cognition Disorders/complications, Adolescent, Adult, Case-Control Studies, Chromosome Deletion, Chromosomes, Human, Pair 16/genetics, Cognition Disorders/genetics, Female, Genome-Wide Association Study, Heterozygote, Humans, Inheritance Patterns/genetics, Mutation/genetics, Obesity/complications, Obesity/genetics, Obesity/physiopathology, Reproducibility of Results, Young Adult, Science & Technology - Other Topics, CHILDHOOD OBESITY, Human, BIRTH, General Science & Technology, Chromosomes, Article, 03 medical and health sciences, MICRODELETION, Obesity, GENOME-WIDE ASSOCIATION, AUTISM, COPY NUMBER VARIATION, Science & Technology, Pair 16, MULTIDISCIPLINARY SCIENCES, FRAMESHIFT MUTATION, RISK LOCI, INDIVIDUALS, CIRCULAR BINARY SEGMENTATION, 1000 General, Mutation, Cognition Disorders, MENTAL-RETARDATION, Chromosomes, Human, Pair 16

Popis súboru: application/pdf; 671 - U104

Prístupová URL adresa: https://europepmc.org/articles/pmc2880448?pdf=render
https://pubmed.ncbi.nlm.nih.gov/20130649
https://infoscience.epfl.ch/record/172873
https://www.ncbi.nlm.nih.gov/pubmed/20130649
https://serval.unil.ch/notice/serval:BIB_779A2B29ACBA
https://www.simonsvipconnect.org/Articles/Walters_DelSummary.pdf
https://www.ndph.ox.ac.uk/publications/48950
https://www.nature.com/articles/nature08727
https://research.vumc.nl/en/publications/53b6d147-f583-4cf7-89f1-0d53c73eb699
https://pure.amsterdamumc.nl/en/publications/1410197b-df39-4bab-ae19-5b3049fab64d
https://doi.org/10.1038/nature08727
http://hdl.handle.net/10044/1/85527
https://ora.ox.ac.uk/objects/uuid:f0001a16-0ea7-4f93-a4a3-7fe79cafe6ed
https://doi.org/10.1038/nature08727
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_779A2B29ACBA2
https://serval.unil.ch/resource/serval:BIB_779A2B29ACBA.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_779A2B29ACBA
http://bura.brunel.ac.uk/handle/2438/14661

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

Autori: Posthuma, Danielle

Zdroj: Posthuma , D & Schizophrenia Working Group of the Psychiatric Genomics Consortium 2018 , ' Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood ' , American Journal of Human Genetics , vol. 102 , no. 6 , pp. 1185-1194 . https://doi.org/10.1016/j.ajhg.2018.03.021

Predmety: Adult, Body Height/genetics, Computer Simulation, Databases, Genetic, Genome, Human, Genotype, Haplotypes/genetics, Humans, Inheritance Patterns/genetics, Likelihood Functions, Linkage Disequilibrium/genetics, Phenotype, Polymorphism, Single Nucleotide/genetics, Regression Analysis, Schizophrenia/genetics, accuracy, schizophrenia, biasedness, genome-wide SNPs, linkage disequilibrium score regression, genetic correlation, height, body mass index, SNP heritability, genomic restricted maximum likelihood

Popis súboru: application/pdf

Dostupnosť: https://research.vu.nl/en/publications/41ee56a1-47fc-4e4b-9ee2-d91677643fd8
https://doi.org/10.1016/j.ajhg.2018.03.021
https://hdl.handle.net/1871.1/41ee56a1-47fc-4e4b-9ee2-d91677643fd8
https://research.vu.nl/ws/files/83592932/Estimation_of_Genetic_Correlation_via_Linkage_Disequilibrium_Score_Regression_and_Genomic_Restricted_Maximum_Likelihood.pdf
http://www.scopus.com/inward/record.url?scp=85046126170&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85046126170&partnerID=8YFLogxK

LTR retrotransposons transcribed in oocytes drive species-specific and heritable changes in DNA methylation

Autori: Brind’amour, Julie Kobayashi, Hisato Richard Albert, Julien a ďalší

Zdroj: Brind’amour , J , Kobayashi , H , Richard Albert , J , Shirane , K , Sakashita , A , Kamio , A , Bogutz , A , Koike , T , Karimi , M M , Lefebvre , L , Kono , T & Lorincz , M C 2018 , ' LTR retrotransposons transcribed in oocytes drive species-specific and heritable changes in DNA methylation ' , Nature Communications , vol. 9 , no. 1 , pp. 3331 . https://doi.org/10.1038/s41467-018-05841-x

Predmety: Animals, CpG Islands/genetics, DNA Methylation/genetics, DNA, Intergenic/genetics, Fertilization/genetics, Gene Expression Regulation, Humans, Inheritance Patterns/genetics, Mammals/metabolism, Mice, Inbred C57BL, Oocytes/metabolism, Polymorphism, Genetic, RNA, Messenger/genetics, Rats, Retroelements/genetics, Species Specificity, Synteny/genetics, Terminal Repeat Sequences/genetics, Transcription

Dostupnosť: https://kclpure.kcl.ac.uk/portal/en/publications/582ea1df-d267-4cd6-ba0d-6b3d53d32ca4
https://doi.org/10.1038/s41467-018-05841-x
http://www.nature.com/articles/s41467-018-05841-x

Environmentally induced epigenetic transgenerational inheritance of male infertility

Autori: Guerrero-Bosagna, Carlos Skinner, Michael K

Zdroj: Current Opinion in Genetics and Development

Predmety: Male, 0301 basic medicine, Inheritance Patterns, Genetic - drug effects, Endocrine Disruptors, Epigenesis, Genetic, 03 medical and health sciences, Genetic, Models, Inheritance Patterns - genetics, Animals, Humans, Male - chemically induced, Infertility, Male, Environmental Pollutants - poisoning, Agrochemicals - poisoning, 0303 health sciences, Models, Genetic, 3. Good health, Infertility, Environmental Pollutants, Male - genetics, Agrochemicals, Endocrine Disruptors - poisoning, Epigenesis

Popis súboru: pdf

Prístupová URL adresa: https://europepmc.org/articles/pmc4252707?pdf=render
https://pubmed.ncbi.nlm.nih.gov/25104619
https://pubmed.ncbi.nlm.nih.gov/25104619/
http://www.diva-portal.org/smash/record.jsf?pid=diva2:737896
https://www.sciencedirect.com/science/article/pii/S0959437X14000586
https://europepmc.org/articles/PMC4252707
https://www.ncbi.nlm.nih.gov/pubmed/25104619
http://swepub.kb.se/bib/swepub:oai:DiVA.org:liu-109350

Very Low-Level Heteroplasmy mtDNA Variations Are Inherited in Humans

Autori: Guo, Yan Li, Chung-I Sheng, Quanhu a ďalší

Zdroj: Guo, Y, Li, C-I, Sheng, Q, Winther, J F, Cai, Q, Boice, J D & Shyr, Y 2013, 'Very low-level heteroplasmy mtDNA variations are inherited in humans', Journal of Genetics and Genomics, vol. 40, no. 12, pp. 607-15. https://doi.org/10.1016/j.jgg.2013.10.003

Predmety: 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, Mutation, Inheritance Patterns, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Mothers, Sequence Analysis, DNA, DNA, Mitochondrial/chemistry, DNA, Mitochondrial, Inheritance Patterns/genetics

Prístupová URL adresa: https://europepmc.org/articles/pmc4149221?pdf=render
https://pubmed.ncbi.nlm.nih.gov/24377867
https://pubmed.ncbi.nlm.nih.gov/24377867/
https://researchoutput.ncku.edu.tw/en/publications/very-low-level-heteroplasmy-mtdna-variations-are-inherited-in-hum
http://www.sciencedirect.com/science/article/pii/S1673852713001963
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149221
https://www.sciencedirect.com/science/article/pii/S1673852713001963
http://europepmc.org/articles/PMC4149221
https://pure.au.dk/portal/en/publications/c7beac65-032e-4c92-a67e-237e07de454d
https://doi.org/10.1016/j.jgg.2013.10.003

Identification of Pleiotropic Genetic Effects on Obesity and Brain Anatomy

Autori: Peter T. Fox Thomas D. Dyer Melanie A. Carless a ďalší

Zdroj: Human Heredity. 75:136-143

Predmety: Adult, Male, 0301 basic medicine, Endophenotypes, Genetic Linkage, Inheritance Patterns, Anatomy (cytology, histology, embryology...) & physiology, Sciences de la santé humaine, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, metabolism & nutrition, Humans, Brain/pathology, Obesity, Human health sciences, Cerebral Cortex, 2. Zero hunger, Anatomie (cytologie, histologie, embryologie...) & physiologie, Brain, Genetic Pleiotropy, Obesity/genetics/pathology, Life sciences, Inheritance Patterns/genetics, 3. Good health, Sciences du vivant, Female, Cerebral Cortex/pathology, Endocrinologie, métabolisme & nutrition

Prístupová URL adresa: https://www.karger.com/Article/Pdf/353953
https://pubmed.ncbi.nlm.nih.gov/24081229
http://orbi.ulg.ac.be/bitstream/2268/210207/1/nihms534648.pdf
https://www.ncbi.nlm.nih.gov/pubmed/24081229
https://uthscsa.influuent.utsystem.edu/en/publications/identification-of-pleiotropic-genetic-effects-on-obesity-and-brai
http://europepmc.org/articles/PMC3889074
https://orbi.uliege.be/handle/2268/210207

Identification of quantitative trait loci (QTL) for resistance to Fusarium crown rot (Fusarium pseudograminearum) in multiple assay environments in the Pacific Northwestern US

Autori: Richard W. Smiley Carl A. Walker Grant J. Poole a ďalší

Zdroj: Theor Appl Genet

Predmety: Genetic Markers, 0301 basic medicine, Plant Diseases - genetics, Northwestern United States, Genetic - genetics, Quantitative Trait Loci, Inheritance Patterns, Fusarium - physiology, Chromosomes, Chromosomes, Plant, 03 medical and health sciences, Fusarium, Biological Assay - methods, Inheritance Patterns - genetics, Disease Resistance - genetics, Genetics, Triticum - microbiology, Quantitative Trait Loci - genetics, Inbreeding, Triticum, Disease Resistance, Plant Diseases, Recombination, Genetic, 2. Zero hunger, Original Paper, 0303 health sciences, Chromosome Mapping, Genetic Variation, Plant, Triticum - genetics, 16. Peace & justice, Triticum - growth & development, Recombination, Biological Assay, Plant Diseases - microbiology, Agronomy and Crop Science, Biotechnology

Prístupová URL adresa: https://link.springer.com/content/pdf/10.1007%2Fs00122-012-1818-6.pdf
https://pubmed.ncbi.nlm.nih.gov/22366812
https://pubag.nal.usda.gov/catalog/395222
https://ir.library.oregonstate.edu/downloads/nc580n327
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351592/
https://rd.springer.com/article/10.1007%2Fs00122-012-1818-6
https://www.cabdirect.org/cabdirect/abstract/20123186455
https://link.springer.com/article/10.1007/s00122-012-1818-6/fulltext.html

Missing Heritability, Next-Generation Genome-Wide Association Studies and Primary Cancer Prevention: An Atlantean Illusion?

Autori: Katsios, C. Roukos, D. H.

Zdroj: Future Oncology. 7:477-480

Predmety: 0301 basic medicine, Inheritance Patterns/*genetics, 0303 health sciences, 03 medical and health sciences, Risk Factors, Neoplasms, Inheritance Patterns, Humans, Genome-Wide Association Study, Sequence Analysis, DNA, Neoplasms/*genetics/*prevention & control

Prístupová URL adresa: https://www.futuremedicine.com/doi/pdf/10.2217/fon.11.29
https://pubmed.ncbi.nlm.nih.gov/21463134
http://olympias.lib.uoi.gr/jspui/handle/123456789/20013

Evolutionary dynamics of spliceosomal intron revealed by in silico analyses of the P-Type ATPase superfamily genes

Autori: Oda, Toshiyuki Ohniwa, Ryosuke L Suzuki, Yuki a ďalší

Prispievatelia: Oda, Toshiyuki Ohniwa, Ryosuke L Suzuki, Yuki a ďalší

Zdroj: Molecular Biology Reports. 38:2285-2293

Predmety: 0301 basic medicine, Evolution, Molecular Sequence Data, Inheritance Patterns, Introns-early theory, Introns/genetics, Evolution, Molecular, 03 medical and health sciences, Species Specificity, Introns-late theory, Animals, Humans, Amino Acid Sequence, P-Type ATPase, Spliceosomes/genetics, 0303 health sciences, Proto-splice site, Molecular, Spliceosomal intron, Multigene Family/genetics, Introns, Inheritance Patterns/genetics, Proton-Translocating ATPases, Gene Components, Proton-Translocating ATPases/genetics, Multigene Family, Spliceosomes, Sequence Alignment, Simulation

Popis súboru: application/pdf

Prístupová URL adresa: https://tsukuba.repo.nii.ac.jp/record/24581/files/MBR_38-4.pdf
https://pubmed.ncbi.nlm.nih.gov/21046256
https://link.springer.com/article/10.1007%2Fs11033-010-0360-3
http://ci.nii.ac.jp/naid/120003338857
https://link.springer.com/article/10.1007%2Fs11033-010-0360-3/fulltext.html
http://repository.kulib.kyoto-u.ac.jp/dspace/bitstream/2433/147052/1/s11033-010-0360-3.pdf
https://www.ncbi.nlm.nih.gov/pubmed/21046256
https://link.springer.com/content/pdf/10.1007%2Fs11033-010-0360-3.pdf

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

Autori: Makrythanasis, Periklis Moix, Isabelle Gimelli, Stefania a ďalší

Zdroj: Clinical Genetics, Vol. 78, No 2 (2010) pp. 175-180

Predmety: 576.5, 0301 basic medicine, DNA Copy Number Variations, Methyl-CpG-Binding Protein 2, Inheritance Patterns, Methyl-CpG-Binding Protein 2/*genetics, DNA Copy Number Variations/genetics, Young Adult, 03 medical and health sciences, Pregnancy, Gene Duplication, Intellectual Disability, Humans, ddc:576.5, Child, In Situ Hybridization, Fluorescence, Facies, Chromosome Aberrations, Comparative Genomic Hybridization, 0303 health sciences, ddc:618, Infant, Newborn, Infant, Inheritance Patterns/genetics, 3. Good health, Intellectual Disability/*genetics, Child, Preschool, Female

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/20236124
https://pubmed.ncbi.nlm.nih.gov/20236124/
https://core.ac.uk/display/60774493
http://www.ncbi.nlm.nih.gov/pubmed/20236124
https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01371.x
https://archive-ouverte.unige.ch/unige:21106
https://archive-ouverte.unige.ch/unige:21106