نتائج البحث - "Vijay S. Ganesh"

1

A form of muscular dystrophy associated with pathogenic variants in JAG2

المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn

المصدر: The American Journal of Human Genetics
Am J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test

2

Fatal Case of Chronic Jamestown Canyon Virus Encephalitis Diagnosed by Metagenomic Sequencing in Patient Receiving Rituximab

المؤلفون: Anne Piantadosi, Steve Miller, Darlene Morse, J. Erin Staples, Xianding Deng, Jana M. Ritter, Michael R. Wilson, Isaac H. Solomon, Vijay S. Ganesh, Shibani S. Mukerji, Guixia Yu, Charles Y. Chiu, Justin Linxweiler, Holly R. Hughes, Tracey A. Milligan, Pardis C. Sabeti, Carolyn V. Gould, Abigail A Mathewson

المصدر: Emerging infectious diseases, vol 27, iss 1
Emerging Infectious Diseases
Emerging Infectious Diseases, Vol 27, Iss 1, Pp 238-242 (2021)

مصطلحات موضوعية: Male, Pathology, Epidemiology, encephalitis, vector-borne infections, lcsh:Medicine, Antibodies, Viral, California, Fatal Case of Chronic Jamestown Canyon Virus Encephalitis Diagnosed by Metagenomic Sequencing in a Patient Receiving Rituximab, rituximab, 0302 clinical medicine, Cerebrospinal fluid, Viral, 030212 general & internal medicine, Jamestown Canyon virus, biology, Dispatch, Middle Aged, metagenomic next-generation sequencing, Infectious Diseases, Medical Microbiology, Public Health and Health Services, Rituximab, Encephalitis, medicine.drug, Microbiology (medical), medicine.medical_specialty, Clinical Sciences, 030231 tropical medicine, Encephalitis Virus, California, Microbiology, Arbovirus, Antibodies, Deep sequencing, Orthobunyavirus, lcsh:Infectious and parasitic diseases, orthobunyavirus, 03 medical and health sciences, Encephalitis, California, medicine, Humans, lcsh:RC109-216, viruses, business.industry, lcsh:R, Neurosciences, Encephalitis Virus, medicine.disease, biology.organism_classification, arbovirus, monoclonal antibody, Metagenomics, Metagenome, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::690a9ac579f948cead2449571328ca3dTest
https://doi.org/10.3201/eid2701.203448Test

3

Metagenomic sequencing with spiked primer enrichment for viral diagnostics and genomic surveillance

المساهمون: University of Oxford [Oxford], Abbott Laboratories Appeared in article as Abbott Laboratories NIH from the NIAID R33-AI129455 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Heart Lung & Blood Institute (NHLBI) Appeared in article as NIH from the National Heart, Lung, and Blood Institute R01-HL105704 California Initiative to Advance Precision Medicine Charles and Helen Schwab Foundation Steven and Alexandra Cohen Foundation United States Department of Defense Appeared in article as United States Department of Defense W81XWH-17-1-0681 Wellcome Trust Appeared in article as Wellcome Trust Royal Society/Sir Henry Dale Fellowship 204311/Z/16/Z Global Challenges Research Fund 005073 Oxford John Fell Research Fund 005166 Africa Oxford grant AfiOx-48

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nature Microbiology
Nature Microbiology, Nature Publishing Group, 2020, ⟨10.1038/s41564-019-0637-9⟩

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], medicine.disease_cause, Polymerase Chain Reaction, Applied Microbiology and Biotechnology, Genome, law.invention, Dengue fever, Dengue, law, Chikungunya, Pathogen, Polymerase chain reaction, 0303 health sciences, Zika Virus Infection, Shotgun sequencing, High-Throughput Nucleotide Sequencing, Ebolavirus, 3. Good health, Virus Diseases, Viruses, RNA, Viral, Infectious diseases, Chikungunya virus, Microbial genetics, Microbiology (medical), Immunology, Genome, Viral, Computational biology, Biology, Microbiology, Article, 03 medical and health sciences, Virology, Yellow Fever, Genetics, medicine, Humans, Author Correction, 030304 developmental biology, 030306 microbiology, Infectious-disease diagnostics, Computational Biology, Zika Virus, Cell Biology, Dengue Virus, Hemorrhagic Fever, Ebola, medicine.disease, Metagenomics, DNA, Viral, Metagenome, Primer (molecular biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5cea654862ffd7f7b40e12f0140e022Test
https://doi.org/10.1038/s41564-019-0637-9Test

4

Jamestown Canyon virus in Massachusetts: clinical case series and vector screening

المؤلفون: Catherine M. Brown, Molly L Paras, Lin H. Chen, Scott Hennigan, Cormac M. Kinsella, Sandra Smole, Daniel P. McQuillen, Ruta Shah, Anne Piantadosi, Matthew Osborne, Justin Chan, Samar B. Mehta, Pardis C. Sabeti, Vijay S. Ganesh, Frederic Halpern-Smith

المساهمون: Graduate School, AII - Infectious diseases

المصدر: Emerging Microbes & Infections
Emerging microbes and infections, 9(1), 903-912. Nature Publishing Group

مصطلحات موضوعية: Male, 0301 basic medicine, Epidemiology, encephalitis, Ochlerotatus, viruses, Disease Vectors, Serology, Drug Discovery, diagnostics, Prevalence, Vector (molecular biology), Phylogeny, Jamestown Canyon virus, biology, meningitis, virus diseases, General Medicine, Middle Aged, Infectious Diseases, Massachusetts, RNA, Viral, Original Article, Female, Meningitis, Encephalitis, Adult, medicine.medical_specialty, 030106 microbiology, Immunology, Encephalitis Virus, California, Genome, Viral, Mosquito Vectors, Microbiology, Arbovirus, 03 medical and health sciences, Virology, medicine, Animals, Humans, Aged, medicine.disease, biology.organism_classification, arbovirus, Culicidae, 030104 developmental biology, Parasitology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b20f54fe905845e2962babe0fffa2006Test
https://doi.org/10.1080/22221751.2020.1756697Test

5

Enhanced Virus Detection and Metagenomic Sequencing in Patients with Meningitis and Encephalitis

المصدر: mBio
mBio, Vol 12, Iss 4 (2021)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c19d71282a5f9578f48f486383d1fa3Test
https://doi.org/10.1128/mbio.01143-21Test

6

Enhanced virus detection and metagenomic sequencing in patients with meningitis and encephalitis

مصطلحات موضوعية: biology, business.industry, Disease, biology.organism_classification, medicine.disease, medicine.disease_cause, Virology, Serology, medicine, Enterovirus, Powassan virus, Borrelia burgdorferi, business, Pathogen, Meningitis, Encephalitis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::933a8d2dc8074b940c9f641bd55ccc97Test
https://doi.org/10.1101/2020.11.25.399394Test

7

Rapid Detection of Powassan Virus in a Patient With Encephalitis by Metagenomic Sequencing

المصدر: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d307c75388dbad544b724cdeeda3015Test
https://doi.org/10.1093/cid/cix792Test

8

More than a fancy exome: unique capabilities of genome sequencing for pediatric rare disease diagnosis

المؤلفون: Lynn Pais, Samantha Baxter, Vijay S. Ganesh, Ben Weisburd, Heidi L. Rehm, Stephanie DiTroia, Julia K. Goodrich, Anne H. O’Donnell-Luria, Emily O'Heir, Katrin Õunap, Alan H. Beggs, Pankaj B. Agrawal, Daniel G. MacArthur, Monica H. Wojcik, Sander Pajusalu, Katherine R. Chao

المصدر: Molecular Genetics and Metabolism. 132:S88

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Computational biology, Biology, Molecular Biology, Biochemistry, Exome, DNA sequencing, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::741c9a06a067d189d3b595704df390baTest
https://doi.org/10.1016/s1096-7192Test(21)00217-1

9

Author Correction: Metagenomic sequencing with spiked primer enrichment for viral diagnostics and genomic surveillance

المصدر: Nature Microbiology. 5:525-525

مصطلحات موضوعية: Microbiology (medical), Metagenomics, Immunology, Genetics, Cell Biology, Computational biology, Primer (molecular biology), Biology, Applied Microbiology and Biotechnology, Microbiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d87ba87b6e1ca44e13286425cc15aa14Test
https://doi.org/10.1038/s41564-020-0671-7Test

10

Sodium Channel SCN3A (Na(V)1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

المساهمون: Clinical Genetics, Neurology, Anna-Elina Lehesjoki / Principal Investigator, Department of Medical and Clinical Genetics, Neuroscience Center, Medicum, Research Programme for Molecular Neurology, Research Programs Unit, University of Helsinki, Clinicum, Department of Diagnostics and Therapeutics, HUS Medical Imaging Center, Children's Hospital, Lastenneurologian yksikkö

المصدر: Neuron, 99(5), 905-+. Cell Press
Neuron, vol 99, iss 5

مصطلحات موضوعية: Male, 0301 basic medicine, PERISYLVIAN POLYMICROGYRIA, Neurodegenerative, Ion Channels, Sodium Channels, 3124 Neurology and psychiatry, SCN3A, Cell Movement, Cortex (anatomy), NAV1.3 Voltage-Gated Sodium Channel, Polymicrogyria, 2.1 Biological and endogenous factors, Psychology, SCN1A, Aetiology, Child, NEURONS, EPILEPSY, Pediatric, Cerebral Cortex, Cultured, General Neuroscience, Outer Radial Glia, Cortical Development, Middle Aged, Na(V)1.3, Pedigree, Na(V)1.1, medicine.anatomical_structure, Neurological, Female, Cognitive Sciences, ALPHA-SUBUNIT, RADIAL GLIA, Adult, EXPRESSION, REVERSE NA+/CA2+ EXCHANGE, Adolescent, Cells, 1.1 Normal biological development and functioning, Subventricular zone, Biology, Language Development, Article, CONTRIBUTES, 03 medical and health sciences, Channelopathy, Underpinning research, medicine, Animals, Speech, Humans, Preschool, Oromotor, Epilepsy, Neurology & Neurosurgery, Sodium channel, Sodium, Ferrets, Neurosciences, 3112 Neurosciences, Infant, Voltage-Gated Sodium Channel, IN-VITRO, Perinatal Period - Conditions Originating in Perinatal Period, Stem Cell Research, medicine.disease, Perisylvian polymicrogyria, Megalencephaly, ta3124, Brain Disorders, NEURAL PROGENITORS, HEK293 Cells, 030104 developmental biology, NAV1, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6650abc186a9dd259cef77d8521b9cfTest
https://pure.eur.nl/en/publications/f0512c72-5b9c-43cb-b5a8-7a5a09ef75f5Test

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