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1
المؤلفون: Sergey Paushkin, Charlotte J. Sumner, Frank Rigo, Ian Waters, Pamela J. Snyder, Thomas W. Prior, Shannon J. Taylor, Constantin d’Ydewalle, Christine L. Hatem, Nikhil Gupte, Thomas O. Crawford, Daniel A. Norris, John B. Matson, Amal Dakka, Kathryn J. Swoboda, C. Frank Bennett, Phillip G. Zaworski, Nikolai Naryshkin, Vijayalakshmi Gabbeta, Stephanie Klein, Daniel M. Ramos, David Valdivia
المصدر: Journal of Clinical Investigation. 129:4817-4831
مصطلحات موضوعية: Male, 0301 basic medicine, Aging, medicine.medical_specialty, Neuromuscular disease, Cell Survival, animal diseases, Oligodeoxyribonucleotides, Antisense, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, 0302 clinical medicine, Atrophy, Internal medicine, Humans, Medicine, Motor Neurons, Messenger RNA, business.industry, Neurodegeneration, General Medicine, Motor neuron, medicine.disease, SMA, Spinal cord, nervous system diseases, Survival of Motor Neuron 2 Protein, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, nervous system, Spinal Cord, 030220 oncology & carcinogenesis, Female, Autopsy, Clinical Medicine, business
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2
المؤلفون: Huolin Tu, Pamela J. Snyder, John Madison, Dan Jones, Richard Eltringham, Huanyu Wang, Amy Leber, Sophonie Jean
المصدر: J Clin Microbiol
مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Strain typing, COVID-19, Virulence, Biology, medicine.disease_cause, Virology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation, Spike Glycoprotein, Coronavirus, Mutation (genetic algorithm), Multiplex polymerase chain reaction, medicine, Humans, Multiplex, Spike (software development), 030212 general & internal medicine, Multiplex Polymerase Chain Reaction, Coronavirus
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3
المؤلفون: Pamela J. Snyder, Huolin Tu, Dan Jones, John Madison, Richard Eltringham, Amy Leber, Sophonie Jean, Huanyu Wang
مصطلحات موضوعية: Whole genome sequencing, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Mutation (genetic algorithm), Screening method, Virulence, Identification (biology), Multiplex, Spike (software development), Computational biology, Biology
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4
المؤلفون: Thomas W. Prior, Stephen J. Kolb, Corey Ruhno, John T. Kissel, Arthur H. M. Burghes, W. David Arnold, Pamela J. Snyder, Vicki L. McGovern, Jennifer Roggenbuck, Stanley Iyadurai
المصدر: Muscle & Nerve. 56:341-345
مصطلحات موضوعية: 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Physiology, business.industry, Hearing loss, Cardiomyopathy, Sensory loss, medicine.disease, Phenotype, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, Physiology (medical), Genotype, Medicine, Neurology (clinical), medicine.symptom, Age of onset, business, Myopathy
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5
المؤلفون: Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno
مصطلحات موضوعية: Candidate gene, Genetic Linkage, Gene Dosage, Inheritance Patterns, SMN1, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Gene Frequency, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, 030305 genetics & heredity, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Phenotype, Gene Deletion
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6
المؤلفون: Stanley, Iyadurai, W David, Arnold, John T, Kissel, Corey, Ruhno, Vicki L, Mcgovern, Pamela J, Snyder, Thomas W, Prior, Jennifer, Roggenbuck, Arthur H, Burghes, Stephen J, Kolb
المصدر: Musclenerve. 56(2)
مصطلحات موضوعية: Adult, Family Health, Male, Myosin Type II, Genotype, Myosin Heavy Chains, Genetic Linkage, Action Potentials, Middle Aged, Article, Phenotype, North America, Humans, Female, Hereditary Sensory and Motor Neuropathy, Muscle, Skeletal
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7
المؤلفون: Patricia I. Botma, Sandi L. Talbott, Gerald L. Feldman, Jin Fang, Thomas W. Prior, Fatimah A. Nahhas, Thomas J. Monroe, Pamela J. Snyder
المصدر: Genetic Testing and Molecular Biomarkers. 16:187-192
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Biology, Polymerase Chain Reaction, law.invention, Fragile X Mental Retardation Protein, law, medicine, Humans, Allele, Alleles, Genetics (clinical), Polymerase chain reaction, Genetics, Clinical Laboratory Techniques, Electrophoresis, Capillary, General Medicine, Methylation, DNA Methylation, medicine.disease, Molecular biology, FMR1, Fragile X syndrome, Blotting, Southern, Fragile X Syndrome, Mutation, DNA methylation, Mutation (genetic algorithm), Female, Indicators and Reagents, Reagent Kits, Diagnostic, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
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8
المؤلفون: Pamela J. Snyder, Manisha H. Shah, Steffen Sammet, Lai Wei, Elaine T. Lam, Minden Collamore, Vasyl Vasko, Matthew D. Ringel, Richard T. Kloos, Jeffrey F. Moley, John Wright, Daria Arbogast, Miguel A. Villalona-Calero, Jiachao Liang, Motoyasu Saji, Michael V. Knopp, Paul E. Wakely, Thomas W. Prior, Nathan Hall
المصدر: Journal of Clinical Oncology. 28:2323-2330
مصطلحات موضوعية: Adult, Male, Niacinamide, Sorafenib, Oncology, Cancer Research, medicine.medical_specialty, Pathology, Time Factors, Pyridines, Administration, Oral, Kaplan-Meier Estimate, Vandetanib, Proto-Oncogene Mas, Disease-Free Survival, Young Adult, Internal medicine, Biomarkers, Tumor, Clinical endpoint, medicine, Carcinoma, Humans, Thyroid Neoplasms, Protein Kinase Inhibitors, Aged, business.industry, Phenylurea Compounds, Benzenesulfonates, Proto-Oncogene Proteins c-ret, Medullary thyroid cancer, Middle Aged, medicine.disease, Magnetic Resonance Imaging, United States, Clinical trial, Receptors, Vascular Endothelial Growth Factor, Treatment Outcome, Medullary carcinoma, Carcinoma, Medullary, Positron-Emission Tomography, Mutation, Female, Tomography, X-Ray Computed, business, Progressive disease, medicine.drug
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9
المؤلفون: E. A. Renard, William Arnold, Thomas W. Prior, E. J. Poi, Miriam Freimer, John T. Kissel, Stephen J. Kolb, Victoria H. Lawson, S. Sutton, S. Gu, Amy Bartlett, Pamela J. Snyder
المصدر: Neurology. 74:502-506
مصطلحات موضوعية: Candidate gene, DNA Mutational Analysis, Mutant, Pilot Projects, medicine.disease_cause, Cohort Studies, Hsp27, Heat shock protein, medicine, Humans, Gene family, Missense mutation, Genetic Predisposition to Disease, Heat-Shock Proteins, Family Health, Genetics, Mutation, biology, Middle Aged, Motor neuron, medicine.anatomical_structure, biology.protein, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy
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10
المؤلفون: Thomas W. Prior, James R. Van Brocklyn, Dennis K. Pearl, Catherine A Jackson, Pamela J. Snyder, Mark S. Kotur
المصدر: Journal of Neuropathology and Experimental Neurology. 64:695-705
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Time Factors, Blotting, Western, Sphingosine kinase, Apoptosis, Cell Count, Cell Enlargement, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Cell Line, Tumor, Glioma, medicine, Humans, RNA, Messenger, Sphingosine-1-phosphate, RNA, Small Interfering, neoplasms, Gene knockdown, biology, Reverse Transcriptase Polymerase Chain Reaction, Cell growth, Cell Cycle, Sphingosine Kinase 2, General Medicine, Middle Aged, Blotting, Northern, medicine.disease, nervous system diseases, Gene Expression Regulation, Neoplastic, Phosphotransferases (Alcohol Group Acceptor), Receptors, Lysosphingolipid, SPHK2, Neurology, chemistry, Sphingosine kinase 1, Cancer research, biology.protein, Neurology (clinical), Glioblastoma
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11
المؤلفون: Xiang Li, Lingyan Xing, Elizabeth C. Chao, Jia Perng Wei, Hong Lu, Pamela J. Snyder, Hsiao Mei Lu, Tamara J. Stevenson, Kelly Gonzalez, Kathryn J. Swoboda, Tara M. Newcomb, Russell J. Butterfield, Thomas W. Prior, Joshua L. Bonkowsky, Wenqi Zeng, Benjamin W. Nelson
المصدر: Neurology. 82(15)
مصطلحات موضوعية: Morpholino, Genotype, Mutant, medicine.disease_cause, Article, Muscular Atrophy, Spinal, medicine, Animals, Humans, Zebrafish, Gene, Genetics, Gene knockdown, Mutation, biology, Infant, Newborn, Infant, Nuclear Proteins, Spinal muscular atrophy, biology.organism_classification, medicine.disease, Neurology (clinical), Ribosomes, Orthologous Gene
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12
المؤلفون: Clara D. Bloomfield, Michael A. Caligiuri, Colin G. Edwards, James W. Vardiman, Guido Marcucci, Kellie J. Archer, Prasad Koduru, Jonathan E. Kolitz, Karl S. Theil, Krzysztof Mrózek, Andrew J. Carroll, Pamela J. Snyder, Thomas W. Prior, Richard A. Larson, Mark J. Pettenati
المصدر: Journal of Clinical Oncology. 19:2482-2492
مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Chromosomes, Human, Pair 21, Chromosomal translocation, Translocation, Genetic, RUNX1 Translocation Partner 1 Protein, Proto-Oncogene Proteins, Internal medicine, medicine, MYH11, Humans, Prospective Studies, Core binding factor acute myeloid leukemia, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Cytogenetics, Myeloid leukemia, Cancer, Karyotype, Middle Aged, medicine.disease, Molecular biology, DNA-Binding Proteins, Leukemia, Chromosome Inversion, Core Binding Factor Alpha 2 Subunit, Female, business, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 8, Transcription Factors
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13
المؤلفون: Audrey C. Papp, Robert W. Schafer, Carol E. Glasure, Thomas W. Prior, Karl S. Theil, Albert de la Chapelle, Ying Huang, John W. Heinz, Matthew D. Mailman, Mary S. Sedra, Tamara Hemingway, Elsa Reich, Rebecca L. Darsey, Pamela J. Snyder, Robert B. Chadwick, Dianne N. Abuelo, Arthur H.M. Burghes
المصدر: Human Genetics. 108:109-115
مصطلحات موضوعية: Nerve Tissue Proteins, SMN1, Biology, medicine.disease_cause, Somatic Cell Hybridization, Muscular Atrophy, Spinal, Genotype, Genetics, medicine, Humans, Cyclic AMP Response Element-Binding Protein, In Situ Hybridization, Fluorescence, Genetics (clinical), DNA Primers, Mutation, Base Sequence, medicine.diagnostic_test, Genetic Carrier Screening, Chromosome Mapping, RNA-Binding Proteins, Chromosome, SMN Complex Proteins, Spinal muscular atrophy, medicine.disease, Survival of Motor Neuron 1 Protein, Human genetics, nervous system diseases, Haplotypes, Autoradiography, Chromosomes, Human, Pair 5, Fluorescence in situ hybridization
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14
المؤلفون: Robert E. Pyatt, Dennis K. Pearl, Shannon Garner, Betsy Schmalz, Laura Montgomery, David C. Mihal, Katie Ziegler, Pamela J. Snyder, Todd Conlan, Sayaka Hashimoto, Carolee Noonan, Britton D. Rink, Thomas W. Prior
المصدر: Obstetrical & Gynecological Survey. 65:697-699
مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Pediatrics, Genotype, Genetic counseling, Population, Prenatal diagnosis, SMN1, Carrier testing, Fluorescence, Muscular Atrophy, Spinal, Neonatal Screening, Genetics, medicine, Humans, education, Genetics (clinical), Newborn screening, education.field_of_study, business.industry, Infant, Newborn, Obstetrics and Gynecology, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Health Surveys, Survival of Motor Neuron 1 Protein, Clinical trial, Physical therapy, business
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15
المؤلفون: April N. Meyer, Daniel J. Donoghue, Thomas W. Prior, Kandamurugu Manickam, Pamela J. Snyder
المصدر: American journal of medical genetics. Part A. (1)
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Nonsense mutation, DNA Mutational Analysis, Mutation, Missense, Gene Expression, Hypochondroplasia, Biology, Bone and Bones, Achondroplasia, Cell Line, Internal medicine, Genetics, medicine, Missense mutation, Humans, Receptor, Fibroblast Growth Factor, Type 3, Kinase activity, Phosphorylation, SADDAN, Codon, Acanthosis nigricans, Genetics (clinical), Infant, medicine.disease, Radiography, Endocrinology, Phenotype, Amino Acid Substitution, Mutation (genetic algorithm), Female
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16
المؤلفون: Robert E. Pyatt, Juan F. Sotos, Thomas W. Prior, Theresa Mihalic Mosher, Lauren C. Walters-Sen, Ruthann B. Pfau, Scott E. Hickey, Pamela J. Snyder
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Fragile x, Pediatrics, medicine.medical_specialty, Dwarfism, Short stature, Fragile X Mental Retardation Protein, Intellectual Disability, Gene duplication, Intellectual disability, Chromosome Duplication, Genetics, medicine, Humans, Obesity, Genetics (clinical), Chromosomes, Human, X, Comparative Genomic Hybridization, business.industry, Hypogonadism, Chromosome Mapping, Syndrome, medicine.disease, FMR1, Pedigree, Fmr1 gene, Gynecomastia, medicine.symptom, business
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17
المؤلفون: M Guida, Thomas W. Prior, Mary S. Sedra, Pamela J. Snyder, Audrey C. Papp
المصدر: Molecular Diagnosis. 1:59-64
مصطلحات موضوعية: Androgen receptor, Genetics, chemistry.chemical_compound, Fragile x, Betaine, chemistry, Triplet repeat, General Medicine, Allele, Biology, Trinucleotide repeat expansion, Molecular medicine, DNA
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المؤلفون: Claire Bartolo, Pamela J. Snyder, Jerry R. Mendell, Audrey C. Papp, Mary S. Sedra, Thomas W. Prior, Arthur H.M. Burghes
المصدر: Human Mutation. 7:72-75
مصطلحات موضوعية: Genetics, Nonsense mutation, medicine, Biology, Muscular dystrophy, medicine.disease, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9172cb6fdb40bd5d0cf220776d3a90
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<72::aid-humu13>3.3.co;2-7 -
19
المؤلفون: W. Edward Highsmith, Gail D. Wenger, Mary S. Sedra, Audrey C. Papp, Thomas W. Prior, Jay W. Moore, Pamela J. Snyder, Claire Bartolo
المصدر: Human Mutation. 5:263-268
مصطلحات موضوعية: Duchenne muscular dystrophy, Molecular Sequence Data, Polymerase Chain Reaction, Muscular Dystrophies, Dystrophin, Genetics, medicine, Humans, Multiplex, Allele, Genetics (clinical), Polymorphism, Genetic, Base Sequence, biology, Genetic Carrier Screening, Haplotype, Nucleic Acid Heteroduplexes, DNA, Exons, medicine.disease, Pedigree, Restriction enzyme, Haplotypes, biology.protein, Electrophoresis, Polyacrylamide Gel, Female, Heteroduplex
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20
المؤلفون: Richard T. Moxley, Audrey C. Papp, Lorraine M. Western, Thomas W. Prior, Pamela J. Snyder, Mary S. Sedra, Claire Bartolo, Jerry R. Mendell
المصدر: American Journal of Medical Genetics. 50:68-73
مصطلحات موضوعية: Male, musculoskeletal diseases, Duchenne muscular dystrophy, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Biology, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Muscular Dystrophies, Dystrophin, medicine, Humans, Point Mutation, Child, Genetics (clinical), Genetics, Mutation, Base Sequence, Genetic Carrier Screening, Point mutation, Nucleic Acid Heteroduplexes, medicine.disease, Molecular biology, Genes, biology.protein, Restriction fragment length polymorphism, Heteroduplex