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1دورية أكاديمية
المؤلفون: Emilie Lalonde, PhD, Kathryn Ewens, PhD, Jennifer Richards-Yutz, MS, Jessica Ebrahimzedeh, MS, Mizue Terai, PhD, Carin F. Gonsalves, MD, Takami Sato, PhD, MD, Carol L. Shields, MD, Arupa Ganguly, PhD
المصدر: Ophthalmology Science, Vol 2, Iss 2, Pp 100121- (2022)
مصطلحات موضوعية: Copy number profile, Molecular risk groups, Prognosis, 16q deletion, Uveal melanoma, Ophthalmology, RE1-994
وصف الملف: electronic resource
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2
المؤلفون: Emilie Lalonde, Kathryn Ewens, Jennifer Richards-Yutz, Jessica Ebrahimzedeh, Mizue Terai, Carin F. Gonsalves, Takami Sato, Carol L. Shields, Arupa Ganguly
المصدر: Cancer Genetics. :29-30
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology
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3
المؤلفون: Arupa Ganguly, Jennifer M. Kalish, Kelly A. Duffy, Samuel W. Baker, Matthew A. Deardorff, Jennifer Richards-Yutz
المصدر: J Med Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Adolescent, DNA Copy Number Variations, Genotype, Beckwith–Wiedemann syndrome, Disease, 030105 genetics & heredity, Biology, Article, Genomic Imprinting, Young Adult, 03 medical and health sciences, symbols.namesake, Tissue mosaicism, Genetics, medicine, Humans, Epigenetics, Imprinting (psychology), Child, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), Sanger sequencing, Comparative Genomic Hybridization, Mosaicism, Infant, Newborn, Infant, DNA Methylation, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, symbols, Medical genetics, Female
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4
المؤلفون: Arupa Ganguly, Jennifer Richards-Yutz, Miguel A. Guzman, Nitin Marwaha, Matthew J. Pierson, Jessica Ebrahimzadeh, Jeroen Coppens, Jacqueline R. Batanian
المصدر: Journal of Cutaneous Pathology. 43:1186-1196
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Histology, medicine.diagnostic_test, Magnetic resonance imaging, Dermatology, Lipoma, Biology, medicine.disease, Cerebellopontine angle, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Neurocutaneous melanosis, 030220 oncology & carcinogenesis, medicine, Neoplasm, Intermediate Grade, Melanocytoma, 030217 neurology & neurosurgery, GNAQ
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5
المؤلفون: Jennifer M. Kalish, Christina X Gonzalez-Gandolfi, Evan R Hathaway, Arupa Ganguly, Jennifer L. Cohen, Kelly A. Duffy, Julie D. Kaplan, Matthew A. Deardorff, Jennifer Richards-Yutz, Brian J Sajorda, Andrew T. Gunter
المصدر: Am J Med Genet A
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, 030105 genetics & heredity, Severity of Illness Index, Article, Multiple Gestation, Cohort Studies, Genomic Imprinting, 03 medical and health sciences, Pregnancy, Diseases in Twins, Twins, Dizygotic, Genetics, medicine, Humans, Genetics (clinical), Fetus, Mosaicism, business.industry, Disease Management, Infant, Twins, Monozygotic, DNA Methylation, medicine.disease, Phenotype, 030104 developmental biology, Cohort, Gestation, Female, Monochorionic twins, business, Algorithms
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6
المؤلفون: Keith Rafferty, Tapan Ganguly, Richard Grant, Arupa Ganguly, Jennifer M. Kalish, Jennifer Marie Rosado, Erik Toorens, Emilie Lalonde, Jennifer Richards-Yutz, Jessica Ebrahimzadeh, Matthew A. Deardorff, Erica Schindewolf
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Lineage (genetic), Somatic cell, Class I Phosphatidylinositol 3-Kinases, Vascular Malformations, 030105 genetics & heredity, Biology, somatic overgrowth, Single Center, DNA sequencing, Proteus Syndrome, 03 medical and health sciences, Unknown Significance, Sturge-Weber Syndrome, Genetics, medicine, Humans, Diagnostic laboratory, Genetic Testing, Molecular Biology, Nevus, Genetics (clinical), Original Articles, Sequence Analysis, DNA, medicine.disease, Phenotype, PIK3CA‐related overgrowth spectrum, Proteus syndrome, Musculoskeletal Abnormalities, 030104 developmental biology, mosaicism, Mutation, Original Article, Lipoma
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7
المصدر: BMC Cancer
BMC Cancer, Vol 18, Iss 1, Pp 1-12 (2018)مصطلحات موضوعية: Male, Uveal Neoplasms, Cancer Research, Somatic cell, Kaplan-Meier Estimate, Gene mutation, Germline, Metastasis, 0302 clinical medicine, Medicine, Neoplasm Metastasis, Melanoma, Aged, 80 and over, BAP1, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, Oncology, 030220 oncology & carcinogenesis, germline mutations, ocular/eye cancer, Female, Chromosomes, Human, Pair 3, uveal melanoma, Ubiquitin Thiolesterase, Research Article, Adult, Monosomy, Adolescent, DNA Copy Number Variations, lcsh:RC254-282, Young Adult, 03 medical and health sciences, Germline mutation, Genetics, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Aged, Proportional Hazards Models, business.industry, Tumor Suppressor Proteins, medicine.disease, Mutation, 030221 ophthalmology & optometry, Cancer research, somatic mutations, business
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8
المؤلفون: Jennifer Richards-Yutz, Tricia R. Bhatti, Carol L. Shields, Kathryn G. Ewens, Kimberly Moran, Arupa Ganguly, Ralph C. Eagle
المصدر: Cancer Medicine
مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, MYCN amplification, Ubiquitin-Protein Ligases, Biology, Gene mutation, medicine.disease_cause, 03 medical and health sciences, RB1 mutation‐negative retinoblastoma, medicine, Coding region, Humans, Radiology, Nuclear Medicine and imaging, Protein phosphorylation, Phosphorylation, Child, neoplasms, Original Research, Cancer Biology, Mutation, N-Myc Proto-Oncogene Protein, Retinoblastoma, Gene Amplification, Infant, Newborn, Infant, medicine.disease, Molecular biology, eye diseases, Childhood‐onset ocular tumor, Gene Expression Regulation, Neoplastic, Retinoblastoma Binding Proteins, 030104 developmental biology, Oncology, Child, Preschool, Cancer research, Immunohistochemistry, Female, pRb inactivation by phosphorylation, Carcinogenesis, pRb and ppRb expression in RB
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9
المؤلفون: Kathleen Grant, Susan E. Walther, Arupa Ganguly, Jennifer Richards-Yutz, Elizabeth C. Chao
المصدر: Human Genetics. 128:61-77
مصطلحات موضوعية: Adult, Male, Proband, Nonsynonymous substitution, Adolescent, Genotype, Activin Receptors, Type II, Receptors, Cell Surface, Single-nucleotide polymorphism, Telangiectases, Biology, medicine.disease_cause, Germline mutation, Antigens, CD, Gene Duplication, Genetics, medicine, Humans, Genetics (clinical), Aged, Aged, 80 and over, Mutation, Haplotype, Endoglin, ACVRL1, Middle Aged, Haplotypes, Molecular Diagnostic Techniques, Female, Telangiectasia, Hereditary Hemorrhagic, Gene Deletion
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10
المؤلفون: Jennifer Richards-Yutz, Juliana Purrazzella, Tapan Ganguly, Carol L. Shields, Peter A. Kanetsky, Kathryn G. Ewens, Arupa Ganguly
المصدر: Investigative ophthalmologyvisual science. 55(8)
مصطلحات موضوعية: Oncology, Adult, Male, Uveal Neoplasms, medicine.medical_specialty, Monosomy, Time Factors, DNA Mutational Analysis, Eukaryotic Initiation Factor-1, Metastasis, Young Adult, Germline mutation, Internal medicine, medicine, Humans, Melanoma, Aged, Aged, 80 and over, BAP1, GNA11, business.industry, Tumor Suppressor Proteins, Odds ratio, Middle Aged, Ribonucleoprotein, U2 Small Nuclear, medicine.disease, Phosphoproteins, GTP-Binding Protein alpha Subunits, Logistic Models, Chromosome 3, Case-Control Studies, Mutation, Cancer research, GTP-Binding Protein alpha Subunits, Gq-G11, Female, Chromosomes, Human, Pair 3, RNA Splicing Factors, business, Ubiquitin Thiolesterase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0262dad90c4c9283697282bb2e6076
https://pubmed.ncbi.nlm.nih.gov/25143043