المؤلفون: Gustavo eGlusman, Alissa eSeverson, Varsha eDhankani, Max eRobinson, Terry eFarrah, Denise E. Mauldin, Anna B. Stittrich, Seth A. Ament, Jared C. Roach, Mary E. Brunkow, Dale L. Bodian, Joseph G. Vockley, Ilya eShmulevich, John E. Niederhuber, Leroy eHood

المصدر: Frontiers in Genetics, Vol 6 (2015)

مصطلحات موضوعية: Signal processing, structural variation, Whole-genome sequencing, clinical genomics, depth of coverage, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00045/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ee5ba32d4beb4615b54ca8b9ce4005a6

المؤلفون: Hao Hu, Nayia Petousi, Gustavo Glusman, Yao Yu, Ryan Bohlender, Tsewang Tashi, Jonathan M Downie, Jared C Roach, Amy M Cole, Felipe R Lorenzo, Alan R Rogers, Mary E Brunkow, Gianpiero Cavalleri, Leroy Hood, Sama M Alpatty, Josef T Prchal, Lynn B Jorde, Peter A Robbins, Tatum S Simonson, Chad D Huff

المصدر: PLoS Genetics, Vol 13, Iss 4, p e1006675 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5407610?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/e875a2762e1049a8876383e267b627a5

المؤلفون: Yong Zhou, John N. Aucott, Shizhen Qin, Mingjuan Sun, Mark J. Soloski, Mary E. Brunkow, Carol Scavarda, Li Tang, Gustavo Glusman, Gary P. Wormser, Robert L. Moritz, Xiaowei Yan, Taek Kyun Kim, Leroy Hood, Alison W. Rebman, Denise Cooper, Juan Caballero, Gilbert S. Omenn, Nathan D. Price

المصدر: J Proteome Res

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Blotting, Western, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, Immune system, Lyme disease, Borrelia, Humans, Medicine, 030212 general & internal medicine, Borrelia burgdorferi, Aged, 030304 developmental biology, Lyme Disease, Tick-borne disease, 0303 health sciences, 030102 biochemistry & molecular biology, biology, business.industry, Acute-phase protein, General Chemistry, Middle Aged, biology.organism_classification, medicine.disease, Blood proteins, Immunity, Innate, 3. Good health, 030104 developmental biology, Organ Specificity, Case-Control Studies, Multivariate Analysis, Immunology, Cohort, biology.protein, Erythema Chronicum Migrans, Erythema migrans, Female, Antibody, business, Biomarkers, Acute-Phase Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f2803bbcea1e635c6660796c784b8b7

المؤلفون: John I. Nurnberger, Denise E. Mauldin, Tatyana Shekhtman, Nathan D. Price, Richard Gelinas, Seth A. Ament, Francis J. McMahon, Nirmala Akula, Leroy Hood, Katherine Rouleau, Jared C. Roach, Elliot S. Gershon, Judith A. Badner, Howard J. Edenberg, Sevilla D. Detera-Wadleigh, Mary E. Brunkow, Anna-Barbara Stittrich, John R. Kelsoe, Gustavo Glusman, Liping Hou, Nicholas J. Schork, Justin Ashworth, David Craig, Szabolcs Szelinger

المصدر: Proceedings of the National Academy of Sciences. 112:3576-3581

مصطلحات موضوعية: Male, Candidate gene, Bipolar Disorder, European Continental Ancestry Group, Biology, Polymorphism, Single Nucleotide, Genome, White People, Risk Factors, CAMK2A, Humans, Missense mutation, Genetic Predisposition to Disease, ANK3, Gene, Genetic Association Studies, Genetic association, Neurons, Genetics, Multidisciplinary, CACNG2, Genetic Variation, Biological Sciences, Pedigree, Case-Control Studies, biology.protein, Female, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39d7813b2aa071ffc1e3849c540914ed
https://doi.org/10.1073/pnas.1424958112

المؤلفون: Alan R. Rogers, Yao Yu, Josef T. Prchal, Lynn B. Jorde, Chad D. Huff, Leroy Hood, Ryan James Bohlender, Nayia Petousi, Felipe R. Lorenzo, Amy M. Cole, Gianpiero L. Cavalleri, Peter A. Robbins, Tsewang Tashi, Sama M. Alpatty, Gustavo Glusman, Tatum S. Simonson, Jared C. Roach, Mary E. Brunkow, Hao Hu, Jonathan M. Downie

المصدر: PLoS Genetics
PLoS Genetics, Vol 13, Iss 4, p e1006675 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Heredity, Genomics Statistics, Introgression, Tibet, Gene flow, Cytochrome P-450 Enzyme System, Basic Helix-Loop-Helix Transcription Factors, Ethnicities, Genetics (clinical), Genetics, education.field_of_study, Natural selection, biology, Altitude, Han Chinese, High-Throughput Nucleotide Sequencing, Genomics, Adaptation, Physiological, Genetic Mapping, Female, Research Article, Gene Flow, Evolutionary Processes, lcsh:QH426-470, Population, Hypoxia-Inducible Factor-Proline Dioxygenases, 03 medical and health sciences, Humans, Selection, Genetic, education, Molecular Biology, Denisovan, Ecology, Evolution, Behavior and Systematics, Demography, Whole genome sequencing, Comparative genomics, Evolutionary Biology, Population Biology, Genome, Human, Haplotype, Biology and Life Sciences, Computational Biology, Proteins, Molecular Sequence Annotation, 15. Life on land, Comparative Genomics, biology.organism_classification, lcsh:Genetics, 030104 developmental biology, Haplotypes, Evolutionary biology, People and Places, Receptors, Calcitriol, Population Groupings, Tibetan People, Population Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a2eb7d8b24f2123fbcca01ea2045de2
https://ora.ox.ac.uk/objects/uuid:7d98a200-64ac-44cb-97fc-6ee52cbf983b

المؤلفون: John Caminis, Mary E. Brunkow, Martyn K. Robinson

المصدر: Drug Discovery Today. 18:637-643

مصطلحات موضوعية: Genetic Markers, Drug, media_common.quotation_subject, Osteoporosis, Bioinformatics, Antibodies, chemistry.chemical_compound, symbols.namesake, Optimism, Drug Discovery, Animals, Humans, Medicine, Genetic Predisposition to Disease, Molecular Targeted Therapy, Adaptor Proteins, Signal Transducing, media_common, Pharmacology, Genetics, Bone Density Conservation Agents, business.industry, Hyperostosis, medicine.disease, Clinical trial, Phenotype, Treatment Outcome, Mood, chemistry, Bone Morphogenetic Proteins, Mutation, Mendelian inheritance, symbols, Sclerostin, Human genome, Syndactyly, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28da6c81c9370f2392f0eeec81363d4
https://doi.org/10.1016/j.drudis.2013.04.001

المؤلفون: Daciana Margineantu, Karen Staehling, Heon Park, Tania Habib, Mary E. Brunkow, Mark Tsang, Mark W. Appleby, Brian M. Iritani, George A. Carlson, David M. Hockenbery, H. Denny Liggitt

المصدر: Immunity. 36(5):769-781

مصطلحات موضوعية: Cell signaling, Cell division, Estrone, Cellular differentiation, Cell, Immunology, Apoptosis, Mice, Transgenic, Biology, Article, Proto-Oncogene Proteins c-myc, Mice, 03 medical and health sciences, 0302 clinical medicine, AMP-Activated Protein Kinase Kinases, medicine, Animals, Immunology and Allergy, PI3K/AKT/mTOR pathway, B cell, 030304 developmental biology, B-Lymphocytes, 0303 health sciences, Cell growth, Precursor Cells, B-Lymphoid, TOR Serine-Threonine Kinases, Cell Differentiation, Hematopoiesis, Cell biology, medicine.anatomical_structure, Infectious Diseases, 030220 oncology & carcinogenesis, Signal transduction, Carrier Proteins, Immunoglobulin Heavy Chains, Protein Kinases, Cell Division, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0374528613cbd2d54fe40cc28453d7e

المؤلفون: Laura Ramírez, Ryan Fitch, Juliana Acosta-Uribe, Kevin Wojta, Brianne M. Bettcher, Mary E. Brunkow, M. D. De Both, Eric M. Reiman, Giovanni Coppola, Mary Luz Arcila, Gustavo Glusman, Matthew J. Huentelman, G. Garcia, Matthew A. Lalli, Ken Kosik, Jared C. Roach, Andres Baena, Francisco Lopera, Lucia Madrigal, Aimee W. Kao, C Guzman

المصدر: Lalli, MA; Bettcher, BM; Arcila, ML; Garcia, G; Guzman, C; Madrigal, L; et al.(2015). Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease. Molecular Psychiatry. doi: 10.1038/mp.2015.131. UCLA: Retrieved from: http://www.escholarship.org/uc/item/2b57s5f2
Molecular psychiatry, vol 20, iss 11
Lalli, MA; Bettcher, BM; Arcila, ML; Garcia, G; Guzman, C; Madrigal, L; et al.(2015). Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease. Molecular Psychiatry, 20(11), 1294-1300. doi: 10.1038/mp.2015.131. UCLA: Retrieved from: http://www.escholarship.org/uc/item/1gx1d02v
Molecular Psychiatry, vol 20, iss 11
Molecular Psychiatry

مصطلحات موضوعية: Male, Aging, Genome-wide association study, Neurodegenerative, Alzheimer's Disease, Medical and Health Sciences, Cohort Studies, PSEN1, 2.1 Biological and endogenous factors, Alzheimer's Disease including Alzheimer's Disease Related Dementias, Age of Onset, Genetics, Psychiatry, education.field_of_study, Single Nucleotide, Middle Aged, Biological Sciences, Psychiatry and Mental health, Neurological, Female, Alzheimer's disease, Human, Adult, Chemokine CCL11, Genotype, Population, Single-nucleotide polymorphism, Locus (genetics), Enzyme-Linked Immunosorbent Assay, Polymorphism, Single Nucleotide, Chromosomes, Cellular and Molecular Neuroscience, Alzheimer Disease, Clinical Research, medicine, Acquired Cognitive Impairment, Humans, Polymorphism, education, Molecular Biology, Aged, business.industry, Pair 17, Haplotype, Human Genome, Psychology and Cognitive Sciences, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), medicine.disease, Brain Disorders, Dementia, Age of onset, Immediate Communication, business, Cognition Disorders, Chromosomes, Human, Pair 17, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c6588e35ed144d7622c5dc55a7acab
http://www.escholarship.org/uc/item/2b57s5f2

المؤلفون: Lee Hood, Eva Andermann, Mario R. Mérida, Bernie LaSalle, Yue Zhang, Terry D. Sanger, Harry T. Chugani, Mylynda Massart, Lynn B. Jorde, Mary E. Brunkow, Mary L. Zupanc, Gyula Acsadi, Abigail Collins, Richard L. Barbano, Mary D. King, Suzanne D. DeBrosse, Rachel B. Tennyson, Sandra P. Reyna, Frederick Andermann, Winnie Xin, Peter Uldall, Sarah R. Cheyette, Aga J. Lewelt, Francis Renault, Louis Viollet, Matthew T. Sweney, Gustavo Glusman, Kenneth Silver, Kelley J. Murphy, Chad D. Huff, Kathryn J. Swoboda, Tara M. Newcomb, Marcio A Sotero de Menezes, Robert S. Rust, Benjamin W. Nelson, Candida Brown, Jared C. Roach, Jennifer F. Friedman, Richard J. Leventer, Louis J. Ptáček, David J. Galas

المصدر: PLoS ONE
PloS one, vol 10, iss 8
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, General Science & Technology, DNA Mutational Analysis, lcsh:Medicine, Hemiplegia, Cohort Studies, MD Multidisciplinary, medicine, Humans, Registries, lcsh:Science, Child, Genotype-Phenotype Correlations, Genetic Association Studies, Multidisciplinary, business.industry, Alternating hemiplegia of childhood, lcsh:R, Correction, Infant, medicine.disease, Child, Preschool, lcsh:Q, Female, Sodium-Potassium-Exchanging ATPase, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b878fb4d9d8ec15ea6ff9b5580ae23
http://europepmc.org/articles/PMC4554723

المؤلفون: Tara M. Newcomb, Mario R. Mérida, Mary E. Brunkow, Sandra P. Reyna, Louis Viollet, Matthew T. Sweney, Lee Hood, Peter Uldall, Jennifer Friedman, Gyula Acsadi, Francis Renault, Kelley J. Murphy, Bernie LaSalle, Sarah R. Cheyette, Chad D. Huff, Frederick Andermann, Mylynda Massart, Lynn B. Jorde, Kenneth Silver, Robert S. Rust, Terry D. Sanger, Marcio A Sotero de Menezes, David J. Galas, Rachel B. Tennyson, Gustavo Glusman, Louis J. Ptáček, Kathryn J. Swoboda, Abigail Collins, Eva Andermann, Candida Brown, Jared C. Roach, Mary D. King, Winnie Xin, Harry T. Chugani, Benjamin W. Nelson, Mary L. Zupanc, Richard J. Leventer, Yue Zhang, Suzanne D. DeBrosse, Aga J. Lewelt, Richard L. Barbano

المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, lcsh:Medicine, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, ATP1A3, medicine, Missense mutation, lcsh:Science, 030304 developmental biology, 0303 health sciences, Mutation, Multidisciplinary, business.industry, Alternating hemiplegia of childhood, lcsh:R, medicine.disease, Human genetics, 3. Good health, Cohort, lcsh:Q, Age of onset, business, 030217 neurology & neurosurgery, Cohort study, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c6f0d12240070cfc8ef07f6d62aba28
http://europepmc.org/articles/PMC4440742