المؤلفون: Anna Maria Pinto, Valentina Imperatore, Aurora Currò, Francesca Ariani, Sonia De Francesco, Serena Somma, Mirella Bruttini, Theodora Hadjistilianou, Alessandra Renieri, Elisa Gelli, Francesca Mari, Marta Giulia Cannone, Daniela Galimberti

المصدر: Human mutation. 40(2)

مصطلحات موضوعية: Male, Ubiquitin-Protein Ligases, promoter methylation, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Germline, Epigenesis, Genetic, 03 medical and health sciences, medicine, Genetics, Humans, epimutation, gene silencing, mosaicism, retinoblastoma, Genetics (clinical), Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Gene Silencing, Allele, Promoter Regions, Genetic, Gene, Alleles, 030304 developmental biology, 0303 health sciences, Mutation, Retinoblastoma, 030305 genetics & heredity, Infant, Methylation, DNA Methylation, medicine.disease, Retinoblastoma Binding Proteins, DNA methylation, Cancer research, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185f94e63b765c0f9420d82a040604ea
https://pubmed.ncbi.nlm.nih.gov/30427563

المؤلفون: Joëlle Wiels, Martine Raphael, Serena Somma, Cristiana Bellan, Alessandro Gozzetti, Massimo Granai, Evelyne May, Awa Oumar Touré, Lorenzo Leoncini, Yonis Ahmed, Michele Iacono, Tandakha Ndiaye Dieye, Charles Henry Gattiollat, Pier Paolo Piccaluga, Abibatou Sall, Teresa Amato, Saliou Diop, Maria Raffaella Ambrosio

المساهمون: Amato, Teresa, Sall, Abibatou, Dièye, Tandakha Ndiaye, Gozzetti, Alessandro, Iacono, Michele, Ambrosio, Maria Raffaella, Granai, Massimo, Somma, Serena, Diop, Saliou, Touré, Awa Oumar, May, Evelyne, Gattiollat, Charles Henry, Wiels, Joëlle, Ahmed, Yoni, Raphael, Martine, Leoncini, Lorenzo, Bellan, Cristiana, Piccaluga, Pier Paolo

المصدر: American journal of clinical pathology. 148(6)

مصطلحات موضوعية: Male, Chronic lymphocytic leukemia, Immunoglobulin heavy chain genes rearrangements, Immunoglobulin heavy chain variable region genes, 2734, Immunoglobulin Heavy Chain, Genes, Immunoglobulin Heavy Chain, Immunoglobulin Variable Region, Immunoglobulin heavy chain genes rearrangement, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, medicine, Tumor Microenvironment, Humans, In patient, Amino Acid Sequence, Immunoglobulin heavy chain variable region gene, Gene, business.industry, Repertoire, Advanced stage, General Medicine, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, Senegal, Leukemia, 030220 oncology & carcinogenesis, Multigene Family, Immunology, Cohort, Immunoglobulin heavy chain, Female, Cohort Studie, business, Immunoglobulin Heavy Chains, 030215 immunology, Human

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8387a6e9c9879e83b94194fb4f02be
https://pubmed.ncbi.nlm.nih.gov/29165569

المؤلفون: Giulia Carignani, Maria Antonietta Mencarelli, Paolo Toti, Francesca Mari, Chiara Di Marco, Francesca Ariani, Daniela Galimberti, Annabella Marozza, Serena Somma, Theodora Hadjistilianou, Ilaria Meloni, Pietro Piu, Caterina Lo Rizzo, Sonia De Francesco, Valentina Imperatore, Sara Amitrano, Laura Dosa, Francesco Cetta, Alessandra Renieri

المصدر: European Journal of Human Genetics. 23:1523-1530

مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Genetics (clinical), Genetics, Genetic counseling, Germline mosaicism, Biology, Retinoblastoma Protein, Article, Deep sequencing, DNA sequencing, Germline mutation, medicine, Humans, Allele, Child, Alleles, Germ-Line Mutation, Mosaicism, Retinoblastoma, Sporadic Retinoblastoma, High-Throughput Nucleotide Sequencing, medicine.disease, eye diseases, Child, Preschool, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0092d3365856b220ad8bb2e976100a
https://doi.org/10.1038/ejhg.2015.6