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المؤلفون: Simin Hakim, Christine K. Tran, Van Hoang, Lianna Fung, Michael V. Zaragoza, Frances Oh, Katherine Cung, Linda A. McCarthy, Anna Grosberg, Ember Jensen
المساهمون: Song, Chunhua
المصدر: Zaragoza, MV; Fung, L; Jensen, E; Oh, F; Cung, K; McCarthy, LA; et al.(2016). Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death. PLOS ONE, 11(5). doi: 10.1371/journal.pone.0155421. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4z91w6h3
PloS one, vol 11, iss 5
PLoS ONE, Vol 11, Iss 5, p e0155421 (2016)
PLoS ONEمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Molecular biology, DNA Mutational Analysis, Gene Identification and Analysis, lcsh:Medicine, Cardiovascular, LMNA, Sequencing techniques, Gene Frequency, Animal Cells, Dilated, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Exome, DNA sequencing, Aetiology, lcsh:Science, Exome sequencing, Connective Tissue Cells, Sanger sequencing, Genetics, Sick Sinus Syndrome, Multidisciplinary, Splice site mutation, High-Throughput Nucleotide Sequencing, Nonsense Mutation, Middle Aged, Lamin Type A, Pedigree, Death, Phenotype, Heart Disease, Connective Tissue, symbols, Female, Cellular Types, Anatomy, Cardiomyopathies, Cardiac, Sequence Analysis, Arrhythmia, Research Article, Cardiomyopathy, Dilated, Adult, Cardiomyopathy, General Science & Technology, Nonsense mutation, Cardiology, Biology, Sudden death, 03 medical and health sciences, symbols.namesake, Genetic Heterogeneity, Rare Diseases, Clinical Research, Humans, Genetic Predisposition to Disease, Mutation Detection, Alleles, Genetic Association Studies, Heart Failure, Gene Expression Profiling, lcsh:R, Human Genome, Dideoxy DNA sequencing, Biology and Life Sciences, Reproducibility of Results, Sequence Analysis, DNA, Cell Biology, DNA, Fibroblasts, Sudden, Research and analysis methods, 030104 developmental biology, Death, Sudden, Cardiac, Biological Tissue, Molecular biology techniques, Mutation, lcsh:Q, RNA Splice Sites, Biomarkers
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285feff1612196773b7c43a0f08cfa97
http://www.escholarship.org/uc/item/4z91w6h3 -
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المؤلفون: Simin Hakim, Van-Dung Hoang, Michael V. Zaragoza, Alison M. Elliott
المصدر: Clinical Genetics
مصطلحات موضوعية: Cardiomyopathy, Dilated, 0301 basic medicine, Proband, medicine.medical_specialty, Cardiomyopathy, Sudden death, LMNA, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Missense mutation, Syndactyly, Letter to the Editor, Genetics (clinical), business.industry, Brachydactyly, Syndrome, Lamin Type A, medicine.disease, Pedigree, 3. Good health, Mandibuloacral dysplasia, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery
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المؤلفون: Simin Hakim, M. Anne Spence, Marko Vujicic, John Douglas Mcpherson, Barbara L. Apostol, Caryn Wagner-McPherson, Deanna M. Church, Michael Lovett, Rachelle Markovich, Mary Carol Krane, Robert K. Moyzis, Miguel Ortega, Peter S. Masny, John J. Wasmuth, Richard G. Del Mastro, Allan Segal, John Vu, Deborah L. Grady, Elizabeth Baer, Naeema Aziz, Genalyn Gonzales
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Genetic Markers, Genetics, Likelihood Functions, Positional cloning, Contig, Gene map, Centromere, Molecular Sequence Data, Chromosome Mapping, Chromosome, Hybrid Cells, Biology, Cosmids, Polymerase Chain Reaction, Genome, Sequence-tagged site, Chromosomes, Human, Pair 5, Humans, Human genome, Lod Score, In Situ Hybridization, Fluorescence, Genetics (clinical), Sequence Tagged Sites
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2d0ba0489bfe2452208aa4cfd847275
https://doi.org/10.1101/gr.7.9.897 -
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المؤلفون: Jaclyn Greenwood, Simin Hakim, Diti Ronvelia, Michael V. Zaragoza, Julia Platt
المصدر: Molecular genetics and metabolism. 107(3)
مصطلحات موضوعية: Proband, Cardiomyopathy, Dilated, Heart Defects, Congenital, Male, medicine.medical_specialty, Neutropenia, Cardiolipins, Endocrinology, Diabetes and Metabolism, Cardiomyopathy, Tafazzin, Gene mutation, Biochemistry, Article, Glutarates, Genetic Heterogeneity, Endocrinology, Transacylation, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Heart Failure, biology, business.industry, Myocardium, Infant, Barth syndrome, Dilated cardiomyopathy, Exons, Middle Aged, medicine.disease, Pedigree, Codon, Nonsense, Barth Syndrome, Cardiology, biology.protein, Left ventricular noncompaction, business, Acyltransferases, Transcription Factors
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المؤلفون: Eva A. Turley, Simin Hakim, John Douglas Mcpherson, John A. McDonald, Chao Wang, John J. Wasmuth, Andrew P. Spicer, M. L. Roller, Sally A. Camper
المصدر: Genomics. 30:115-117
مصطلحات موضوعية: Genetic Markers, Candidate gene, Centromere, Molecular Sequence Data, Breast Neoplasms, Locus (genetics), Hybrid Cells, Biology, Polymerase Chain Reaction, Mice, Gene mapping, Tumor Cells, Cultured, Genetics, Animals, Humans, Gene, Crosses, Genetic, Synteny, Regulation of gene expression, Base Sequence, Carcinoma, Chromosome Mapping, Chromosome, Molecular biology, Mice, Inbred C57BL, Hyaluronan Receptors, Haplotypes, Chromosomes, Human, Pair 5
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المؤلفون: Moyra Smith, Charles Wu, Pauline A. Filipek, Simin Hakim, Charlotte Modahl, Maureen Bocian, M. Anne Spence
المصدر: Smith, M; Filipek, PA; Wu, C; Bocian, M; Hakim, S; Modahl, C; et al.(2000). Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous dna segments in 15q22-q23 and 15q11-q13. American Journal of Medical Genetics-Neuropsychiatric Genetics, 96(6), 765-770. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/33c4t4hv
مصطلحات موضوعية: Genetics, Adult, Mutation, Candidate gene, Chromosomes, Human, Pair 15, Breakpoint, Chromosome, Biology, medicine.disease_cause, Chromosome 15, Gene cluster, Homologous chromosome, medicine, Humans, Genetic Predisposition to Disease, Autistic Disorder, Chromosome Deletion, Child, Gene, Genetics (clinical), In Situ Hybridization, Fluorescence, Microsatellite Repeats
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98bbb2016bc4c1bf060fcb660f92fdd
http://www.escholarship.org/uc/item/33c4t4hv
