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المؤلفون: Wouter de Laat, Yiwen Zhu, Iris Barshack, Corina Hartman, Devin Coleman-Derr, Christopher N. Mayhew, Robert Kleta, E.K. Ruzzo, Diane E. Dickel, Brian L. Black, James M. Wells, Ralston M. Barnes, E.S. Vos, Ifat Bar-Joseph, Matthew F. Kuhar, Yair Anikster, Horia Stanescu, Roni Milgrom, Pavlo Tatarskyy, David Goldstein, Amy Pitstick, Haike Reznik-Wolf, Marco Osterwalder, Axel Visel, Mehmet Tekman, Denise M. Imai, Raanan Shamir, Ben Pode-Shakked, Len A. Pennacchio, Danit Oz-Levi, Kelly Lammerts van Bueren, Rivka Shapiro, Iros Barozzi, Yujun Han, Dina Marek-Yagel, Tsviya Olender, Anna Alkelai, Veena Afzal, Elon Pras, Batia Weiss, Alexander Nord, Michael Schvimer, Doron Lancet
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Nature, vol 571, iss 7763
Nature, 571(7763), 107-111. Nature Publishing Groupمصطلحات موضوعية: Male, animal diseases, Intestines/physiology, Transgenic, Transcriptome, Mice, 0302 clinical medicine, Genes, Reporter, Pair 16/genetics, Sequence Deletion/genetics, 2.1 Biological and endogenous factors, Developmental, Transgenes, Aetiology, Sequence Deletion, Mice, Knockout, Genetics, Regulation of gene expression, 0303 health sciences, Multidisciplinary, Gene Expression Regulation, Developmental, virus diseases, Transcriptome/genetics, Phenotype, Pedigree, 3. Good health, Intestines, Enhancer Elements, Genetic, Regulatory sequence, Genetic Loci/genetics, Female, Chromosomes, Human, Pair 16/genetics, Human, Biotechnology, Diarrhea, Transcriptional Activation, Genetically modified mouse, Enhancer Elements, Transgenes/genetics, General Science & Technology, Knockout, Transgene, Mice, Transgenic, Biology, Chromosomes, 03 medical and health sciences, Oral and Gastrointestinal, Genetic, Animals, Humans, Reporter, Gene, Genetic/genetics, 030304 developmental biology, Pair 16, Animal, Enhancer Elements, Genetic/genetics, Human Genome, Diarrhea/congenital, Disease Models, Animal, Open reading frame, Gene Expression Regulation, Genes, Genetic Loci, Disease Models, Digestive Diseases, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon
المساهمون: Pennsylvania State University (Penn State), Penn State System, Baylor College of Medicine (BCM), Baylor University, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Michigan State University [East Lansing], Michigan State University System, McMaster University [Hamilton, Ontario], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Antwerp University Hospital [Edegem] (UZA), Murdoch Children's Research Institute (MCRI), Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Perelman School of Medicine, University of Pennsylvania [Philadelphia], Medical Genetics, Service de Génétique Médicale, Hôpital Bretonneau, Tours, Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Liège (CHU-Liège), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Greenwood Genetic Center, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Greenwood Genetic Center [Greenwood, South Carolina, USA], Institut de Génétique Médicale [CHRU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicineمصطلحات موضوعية: Male, Parents, 0301 basic medicine, Proband, Neuronal, Genetic Carrier Screening, 16p11.2 deletion, 030105 genetics & heredity, Cognition, Family history, Neural Cell Adhesion Molecules, Genetics (clinical), Exome sequencing, Sequence Deletion, Genetics, Phenotype, Penetrance, Pedigree, Autistic Disorder/genetics, Autistic Disorder/physiopathology, Cell Adhesion Molecules, Neuronal/genetics, Chromosomes, Human, Pair 16/genetics, Cognition/physiology, DNA Copy Number Variations/genetics, Female, Gene Expression Regulation/genetics, Genetic Background, Humans, Methyltransferases/genetics, Nerve Tissue Proteins/genetics, Proteins/genetics, Sequence Deletion/genetics, Siblings, CNV, autism, modifier, phenotypic variability, Human, DNA Copy Number Variations, Cell Adhesion Molecules, Neuronal, Nerve Tissue Proteins, Biology, Chromosomes, Article, 03 medical and health sciences, mental disorders, medicine, Autistic Disorder, Gene, Pair 16, Calcium-Binding Proteins, Proteins, Methyltransferases, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, Human medicine, Chromosomes, Human, Pair 16, Cell Adhesion Molecules, Transcription Factors
وصف الملف: application/pdf; pdf
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المؤلفون: João Amorim, José Bessa, Renata Bordeira-Carriço, Ana Gali-Macedo, Chiara Perrod
المساهمون: Instituto de Investigação e Inovação em Saúde
المصدر: STAR Protocols
STAR Protocols, Vol 1, Iss 3, Pp 100208-(2020)مصطلحات موضوعية: animal structures, Microinjections, Gene Editing / methods, ved/biology.organism_classification_rank.species, Zebrafish / genetics, Sequence Deletion / genetics, Mutagenesis (molecular biology technique), Genomics, Computational biology, General Biochemistry, Genetics and Molecular Biology, Genome engineering, 03 medical and health sciences, 0302 clinical medicine, Model Organisms, Protocol, Genetics, CRISPR, Animals, RNA, Guide / genetics, lcsh:Science (General), Model organism, Microinjections / methods, Zebrafish, Sequence Deletion, 030304 developmental biology, Gene Editing, Cloning, 0303 health sciences, Genome, General Immunology and Microbiology, biology, ved/biology, Cas9, General Neuroscience, CRISPR-Cas Systems / physiology, biology.organism_classification, 3. Good health, Mutagenesis, Site-Directed / methods, Mutagenesis, Site-Directed, CRISPR-Cas Systems, Genetic Engineering, Genetic Engineering / methods, 030217 neurology & neurosurgery, RNA, Guide, Kinetoplastida, lcsh:Q1-390
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49184fd730cbbb7e73f1e52d9e18e2e4
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المؤلفون: Chip Stewart, Pratiti Bandopadhayay, Joachim Weischenfeldt, Yang Li, Chad Nusbaum, Ryan O’Rourke, Ted Sharpe, Peter J. Campbell, Jeremiah Wala, Matthew Meyerson, Rameen Beroukhim, Noah F. Greenwald, Marcin Imielinski, Xiaotong Yao, Gad Getz, Steven E. Schumacher, Cheng-Zhong Zhang
المصدر: Wala, J A, Bandopadhayay, P, Greenwald, N F, O'Rourke, R, Sharpe, T, Stewart, C, Schumacher, S, Li, Y, Weischenfeldt, J, Yao, X, Nusbaum, C, Campbell, P, Getz, G, Meyerson, M, Zhang, C-Z, Imielinski, M & Beroukhim, R 2018, ' SvABA : genome-wide detection of structural variants and indels by local assembly ', Genome Research, vol. 28, no. 4, pp. 581-591 . https://doi.org/10.1101/gr.221028.117
مصطلحات موضوعية: 0301 basic medicine, Sequence analysis, Virus Integration, Method, Sequence assembly, Genomics, Computational biology, Biology, Genome, 03 medical and health sciences, INDEL Mutation, Sequence Deletion/genetics, Databases, Genetic, Genetics, Humans, Virus Integration/genetics, Indel, Genetics (clinical), Sequence Deletion, INDEL Mutation/genetics, Contig, Genome, Human, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Genomic Structural Variation/genetics, Human genetics, 030104 developmental biology, Genomic Structural Variation, Genome, Human/genetics, Human genome, Software
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94cedf7aa5c2d890ddcd7b7c209f4632
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المؤلفون: Charley Anquetil, Romain Durand, Malika Humbert, Nicolas Carraro, Vincent Burrus, Catherine Barrette, Nicolas Rivard
المصدر: PLoS Genetics, Vol 13, Iss 3, p e1006705 (2017)
PLoS Genetics
PLoS Genetics, vol. 13, no. 3, pp. e1006705مصطلحات موضوعية: 0301 basic medicine, Bacterial Diseases, Cancer Research, Mutagenesis and Gene Deletion Techniques, Mutant, lac operon, Gene Expression, Artificial Gene Amplification and Extension, Pathology and Laboratory Medicine, Biochemistry, Polymerase Chain Reaction, chemistry.chemical_compound, Plasmid, Salmonella, Genomic island, Drug Resistance, Multiple, Bacterial, Mobile Genetic Elements, Medicine and Health Sciences, Genetics (clinical), Sequence Deletion, Genetics, Chromosome Biology, Gene Expression Regulation, Developmental, Salmonella enterica, Genomics, Bacterial Pathogens, Nucleic acids, Infectious Diseases, Medical Microbiology, Horizontal gene transfer, Pathogens, Plasmids, Research Article, DNA, Bacterial, Genomic Islands, lcsh:QH426-470, Forms of DNA, 030106 microbiology, Biology, Research and Analysis Methods, Microbiology, Chromosomes, 03 medical and health sciences, Genetic Elements, Enterobacteriaceae, Microbial Control, Escherichia coli, Molecular Biology Techniques, Gene, Molecular Biology, Microbial Pathogens, Ecology, Evolution, Behavior and Systematics, Pharmacology, Reporter gene, Biology and life sciences, Bacteria, Chromosomes/genetics, DNA, Bacterial/genetics, Drug Resistance, Multiple, Bacterial/genetics, Escherichia coli/genetics, Genomic Islands/genetics, Interspersed Repetitive Sequences/genetics, Plasmids/genetics, Salmonella enterica/drug effects, Salmonella enterica/genetics, Salmonella enterica/growth & development, Salmonella enterica/pathogenicity, Sequence Deletion/genetics, Deletion Mutagenesis, Organisms, DNA, Cell Biology, Interspersed Repetitive Sequences, lcsh:Genetics, chemistry, Antibiotic Resistance, Antimicrobial Resistance
وصف الملف: application/pdf
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المؤلفون: Hanene Chelbi, Ahmed Baligh Laaribi, Refaat Sebai, Amel Mezlini, Hamza Ben Yahia, Amna Ben Hassine, Olfa Dziri, Nour Zidi, Wafa Babay, Nadia Boujelebene, Hela Rifi, Inès Zidi
المساهمون: Université de Tunis El Manar (UTM), Departement Medecine Oncologique [Tunis], Institut Salah Azaiz [Tunis] (ISA), Departement Anatomopathologie [ISA, Tunis], Laboratoire de Parasitologie Médicale, Biotechnologies et Biomolécules (LR11IPT06), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Faculté des Sciences Mathématiques, Physiques et Naturelles de Tunis (FST)
المصدر: Immunologic Research
Immunologic Research, Humana Press, 2016, ⟨10.1007/s12026-015-8782-6⟩
Immunologic Research, Humana Press, 2016, 64 (4), pp.961-968. ⟨10.1007/s12026-015-8782-6⟩مصطلحات موضوعية: Carcinogenesis, MICRORNAS, [SDV]Life Sciences [q-bio], VARIANTS, SUSCEPTIBILITY, medicine.disease_cause, 0302 clinical medicine, Breast cancer, Gene Frequency, HLA-G, Genotype, ANTIGEN-G EXPRESSION, MESH: Breast Neoplasms/pathology, Sequence Deletion, MESH: Genetic Association Studies, MESH: Genotype, Genetics, MESH: Aged, MESH: Middle Aged, MESH: Risk, PLASMA, Age Factors, MESH: Genetic Predisposition to Disease, MESH: Neoplasm Staging, Middle Aged, MESH: Carcinogenesis, +3142 C > G, 3. Good health, MESH: Breast Neoplasms/genetics, SHLA-G MOLECULES, 030220 oncology & carcinogenesis, +3142 C>, SECRETION, Female, MESH: Tunisia, Adult, Risk, Tunisia, HLA-G GENE, CARCINOMA, Immunology, Breast Neoplasms, Human leukocyte antigen, Biology, REGION, 03 medical and health sciences, MESH: Polymorphism, Genetic, medicine, Carcinoma, MESH: Gene Frequency, Humans, Genetic Predisposition to Disease, Allele, Polymorphism, MESH: HLA-G Antigens/genetics, Allele frequency, Genetic Association Studies, Aged, Neoplasm Staging, HLA-G Antigens, MESH: Age Factors, 14-bp Insertion/deletion, Polymorphism, Genetic, MESH: Humans, MESH: Sequence Deletion/genetics, MESH: Adult, medicine.disease, Molecular biology, MESH: Female, 030215 immunology
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المؤلفون: Jenny von Salomé, Marie Stenmark-Askmalm, Samuel Gebre-Medhin, Gustav Silander, Masoud Karimi, Christos Aravidis, Philip S. Boonstra, Kristina Lagerstedt-Robinson, Annika Lindblom, Mef Nilbert
المصدر: PLoS Genetics
PLoS Genetics, Vol 13, Iss 10, p e1007012 (2017)
von Salomé, J, Boonstra, P S, Karimi, M, Silander, G, Stenmark-Askmalm, M, Gebre-Medhin, S, Aravidis, C, Nilbert, M, Lindblom, A & Lagerstedt-Robinson, K 2017, ' Genetic anticipation in Swedish Lynch syndrome families ', P L o S Genetics, vol. 13, no. 10, e1007012 . https://doi.org/10.1371/journal.pgen.1007012مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Heredity, Mismatch Repair, DNA Mismatch Repair/genetics, DNA Mismatch Repair, Biochemistry, 0302 clinical medicine, Neoplasms, Sequence Deletion/genetics, Medicine and Health Sciences, PMS2, Genetics (clinical), Sequence Deletion, Genetics, medicine.diagnostic_test, Cancer Risk Factors, Middle Aged, Lynch syndrome, 3. Good health, DNA-Binding Proteins, Nucleic acids, Oncology, Genetic Diseases, 030220 oncology & carcinogenesis, Medical genetics, Female, DNA mismatch repair, Medical Genetics, Genetic Testing/methods, Research Article, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Mutation/genetics, lcsh:QH426-470, Genetic Causes of Cancer, DNA repair, Biology, MLH1, 03 medical and health sciences, Diagnostic Medicine, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Cancer Detection and Diagnosis, medicine, Humans, Genetic Testing, neoplasms, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Medicinsk genetik, Genetic testing, Sweden, Colorectal Cancer, Clinical Genetics, Cancer och onkologi, Anticipation, Genetic, Autosomal Dominant Diseases, Biology and Life Sciences, Cancers and Neoplasms, nutritional and metabolic diseases, Hereditary Nonpolyposis Colorectal Cancer, Human Genetics, DNA, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, Neoplasms/etiology, lcsh:Genetics, 030104 developmental biology, MSH2, Anticipation, Genetic/genetics, Cancer and Oncology, Mutation, DNA-Binding Proteins/genetics
وصف الملف: application/pdf
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المؤلفون: Knutsen Rydberg, Ellen, 1969, Krettek, Alexandra, 1968, Ullström, Christina, 1950, Ekström, Karin, 1977, Svensson, Per-Arne, 1969, Carlsson, Lena M S, 1957, Jönsson-Rylander, Ann-Christine, Hansson, G.I, McPheat, W., Wiklund, Olov, 1943, Ohlsson, Bertil, 1954, Mattsson Hultén, Lillemor, 1951
المصدر: Arterioscler Thromb Vasc Biol. 24(11):2040-5
مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Basic Medicine, Medicinska grundvetenskaper, Alternative Splicing/genetics, Anoxia/*enzymology/*pathology, Arachidonate 15-Lipoxygenase/*biosynthesis/genetics/immunology, Arteriosclerosis/enzymology/metabolism/pathology, Carotid Arteries/enzymology/pathology, Cells, Cultured, Enzyme Activation/genetics, Exons/genetics, Humans, Immunohistochemistry/methods, Lipoproteins, LDL/*metabolism, Macrophages/cytology/*enzymology, Mammary Arteries/physiology, Oxidation-Reduction, Sequence Deletion/genetics, Variation (Genetics)/genetics
URL الوصول: https://gup.ub.gu.se/publication/49802
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المؤلفون: Bjersing, Jan, 1966, Tarkowski, Andrej, 1951, Kandimalla, E. R., Karlsson, H., Agrawal, S., Collins, Vincent, 1962
المصدر: Inflammation. 28(3):159-68
مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Animals, Arthritis/chemically induced/*genetics, Base Sequence, Cell Proliferation/drug effects, Cells, Cultured, Chemokines/biosynthesis, CpG Islands, Cytokines/biosynthesis, DNA/*genetics/*toxicity, Female, Lymphocyte Activation/drug effects, Mice, Oligodeoxyribonucleotides/genetics/toxicity, Sequence Deletion/*genetics, Spleen/cytology/metabolism
URL الوصول: https://gup.ub.gu.se/publication/43453
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المؤلفون: Odegrip, Richard, Haggård-Ljungquist, Elisabeth
المصدر: J Mol Biol. 308(2):147-63
مصطلحات موضوعية: Amino Acid Motifs, Amino Acid Sequence, Amino Acid Substitution/genetics, Bacteriophage P2/*genetics, Base Sequence, Binding Sites, Cations, Divalent/metabolism, DNA Replication, Escherichia coli/genetics/virology, Oligodeoxyribonucleotides/genetics/metabolism, Plasmids/genetics/metabolism, Replicon/genetics, Research Support, Non-U.S. Gov't, Sequence Deletion/genetics, Substrate Specificity, Tyrosine/genetics/*metabolism, Viral Proteins/*chemistry/genetics/*metabolism
وصف الملف: print
