المؤلفون: Lynette S. Penney, Uri Tabori, Helen S. L. Chan, Pavel N. Pichurin, Hala S. Al-Rimawi, Brandie Heald, Matthew F. Kalady, Steven Gallinger, Rina Dvir, Shlomi Cohen, Alain Sayad, Ashraf Shamvil, Harriet Druker, Ronit Elhasid, Spring Holter, Brittany Campbell, Mohsin Rashid, Melyssa Aronson, Kara Semotiuk, Revital Kariv, Musa Alharbi, Hagit N. Baris, Paul Kortan, Linda Hasadsri, Douglas L. Riegert-Johnson, Simon C. Ling, Qasim Alharbi, Doua Bakry, Andrea L. Rideout, Zane Cohen, Roula Farah, David Malkin, Carol Durno

المصدر: American Journal of Gastroenterology. 111:275-284

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Pathology, Lymphoma, 0302 clinical medicine, Intestine, Small, Prospective Studies, Child, Melanoma, health care economics and organizations, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Leukemia, Brain Neoplasms, Gastroenterology, Nuclear Proteins, Glioma, Kidney Neoplasms, DNA-Binding Proteins, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, MISMATCH REPAIR DEFICIENCY, Female, Colorectal Neoplasms, MutL Protein Homolog 1, Adenoma, Adult, medicine.medical_specialty, Adolescent, education, Adenocarcinoma, Wilms Tumor, Young Adult, 03 medical and health sciences, Germline mutation, Neoplastic Syndromes, Hereditary, Intestinal Neoplasms, medicine, Humans, Alleles, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Retrospective Studies, Hepatology, business.industry, Wilms' tumor, medicine.disease, DNA Repair Enzymes, 030104 developmental biology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87aab68ccc2dc50311346ccb56632a05Test
https://doi.org/10.1038/ajg.2015.392Test

المؤلفون: David Malkin, Maysa Al-Hussaini, Carol Durno, Uri Tabori, Brittany Campbell, Melyssa Aronson, Awni Musharbash, Maisa Swaidan, Eric Bouffet, Patricia Rakopoulos, Ibrahim Qaddoumi, Cynthia Hawkins, Nisreen Amayiri, Doua Bakry

المصدر: International Journal of Cancer. 138:380-385

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Pediatrics, medicine.diagnostic_test, business.industry, Cancer, Retrospective cohort study, Consanguinity, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, Glioma, Cohort, Cancer screening, medicine, Family history, business, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::64587f2e8508e042b10ddc08dca076baTest
https://doi.org/10.1002/ijc.29724Test

المؤلفون: Melyssa Aronson, Aaron Pollett, Cynthia Hawkins, Uri Tabori, Doua Bakry, Carol Durno, Eric Bouffet, Steven Gallinger, David Malkin, Philip M. Sherman, Brittany Campbell

المصدر: European Journal of Cancer. 51:977-983

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Genotype, Genetic counseling, Consanguinity, Allelic Imbalance, MLH1, Bioinformatics, Neoplastic Syndromes, Hereditary, PMS2, Humans, Medicine, Child, Family Health, Genetics, Brain Neoplasms, business.industry, Cafe-au-Lait Spots, Intestinal Polyps, medicine.disease, digestive system diseases, Lynch syndrome, MSH6, Phenotype, Oncology, MSH2, Hematologic Neoplasms, Female, Microsatellite Instability, DNA mismatch repair, Colorectal Neoplasms, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f15a951f481987da738bfdc52d2802Test
https://doi.org/10.1016/j.ejca.2015.02.008Test

المؤلفون: Adam, Shlien, Brittany B, Campbell, Richard, de Borja, Ludmil B, Alexandrov, Daniele, Merico, David, Wedge, Peter, Van Loo, Patrick S, Tarpey, Paul, Coupland, Sam, Behjati, Aaron, Pollett, Tatiana, Lipman, Abolfazl, Heidari, Shriya, Deshmukh, Na'ama, Avitzur, Bettina, Meier, Moritz, Gerstung, Ye, Hong, Diana M, Merino, Manasa, Ramakrishna, Marc, Remke, Roland, Arnold, Gagan B, Panigrahi, Neha P, Thakkar, Karl P, Hodel, Erin E, Henninger, A Yasemin, Göksenin, Doua, Bakry, George S, Charames, Harriet, Druker, Jordan, Lerner-Ellis, Matthew, Mistry, Rina, Dvir, Ronald, Grant, Ronit, Elhasid, Roula, Farah, Glenn P, Taylor, Paul C, Nathan, Sarah, Alexander, Shay, Ben-Shachar, Simon C, Ling, Steven, Gallinger, Shlomi, Constantini, Peter, Dirks, Annie, Huang, Stephen W, Scherer, Richard G, Grundy, Carol, Durno, Melyssa, Aronson, Anton, Gartner, M Stephen, Meyn, Michael D, Taylor, Zachary F, Pursell, Christopher E, Pearson, David, Malkin, P Andrew, Futreal, Michael R, Stratton, Eric, Bouffet, Cynthia, Hawkins, Peter J, Campbell, Uri, Tabori

المصدر: Nature Genetics. 47:257-262

مصطلحات موضوعية: DNA Replication, Genetics, COLD-PCR, Genome instability, Mutation rate, Mutation, DNA Repair, Base Pair Mismatch, Brain Neoplasms, DNA repair, Point mutation, DNA-Directed DNA Polymerase, Exons, Biology, medicine.disease_cause, DNA Mismatch Repair, Germline mutation, medicine, Humans, Microsatellite Instability, DNA mismatch repair, Germ-Line Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2872d9f4b6d4f6a48ba693ff41bee84fTest
https://doi.org/10.1038/ng.3202Test

المؤلفون: David Malkin, Ashraf Shamvil, Matthew Mistry, Carol Durno, Steven Gallinger, Musa Alharbi, Shlomi Constantini, Qasim Alharbi, Melyssa Aronson, Eric Bouffet, Elizabeth Chao, Uri Tabori, Roula Farah, Hala Rimawi, Aaron Pollett, Derek Stephens, Ibrahim Qaddoumi, Doua Bakry, Cynthia Hawkins, Shay Ben-Shachar, Jordan Lerner-Ellis, Rina Dvir, Steve Kelies

المصدر: European Journal of Cancer. 50:987-996

مصطلحات موضوعية: Male, Oncology, Cancer Research, medicine.medical_specialty, Pathology, Adolescent, Biology, MLH1, DNA Mismatch Repair, Neoplasms, Internal medicine, PMS2, medicine, Humans, Family history, Child, Adaptor Proteins, Signal Transducing, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Family Health, Cafe-au-Lait Spots, Infant, Nuclear Proteins, Cancer, Microsatellite instability, Syndrome, medicine.disease, Immunohistochemistry, Pedigree, DNA-Binding Proteins, MSH6, DNA Repair Enzymes, MutS Homolog 2 Protein, MSH2, Child, Preschool, Mutation, Female, Microsatellite Instability, DNA mismatch repair, MutL Protein Homolog 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::498bc77534a7161d8f6fe34d32088e8bTest
https://doi.org/10.1016/j.ejca.2013.12.005Test

المؤلفون: Nisreen, Amayiri, Uri, Tabori, Brittany, Campbell, Doua, Bakry, Melyssa, Aronson, Carol, Durno, Patricia, Rakopoulos, David, Malkin, Ibrahim, Qaddoumi, Awni, Musharbash, Maisa, Swaidan, Eric, Bouffet, Cynthia, Hawkins, Maysa, Al-Hussaini

المصدر: International journal of cancer. 138(2)

مصطلحات موضوعية: Male, Jordan, Adolescent, Brain Neoplasms, Infant, Newborn, Infant, Glioma, Kaplan-Meier Estimate, DNA Mismatch Repair, Immunohistochemistry, Neoplastic Syndromes, Hereditary, Risk Factors, Child, Preschool, Humans, Female, Neoplasm Grading, Child, Colorectal Neoplasms, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c31c5e7c96ab3739e1a80e6ab24054ccTest
https://pubmed.ncbi.nlm.nih.gov/26293621Test

المؤلفون: Richard Grundy, Peter B. Dirks, Carol Durno, Adam Shlien, Zachary F. Pursell, David Malkin, Richard de Borja, Annie Huang, Peter J. Campbell, Doua Bakry, Eric Bouffet, Marc Remke, Cynthia Hawkins, Uri Tabori, Diana M. Merino, Ludmil B. Alexandrov, Brittany Campbell, Melyssa Aronson, Michael D. Taylor, Christopher E. Pearson

مصطلحات موضوعية: Genetics, Cancer Research, Mutation, biology, DNA polymerase, DNA repair, Microsatellite instability, Cancer, medicine.disease, medicine.disease_cause, Oncology, biology.protein, medicine, DNA mismatch repair, Neurology (clinical), Carcinogenesis, Abstracts from the 3rd Biennial Conference on Pediatric Neuro-Oncology Basic and Translational Research, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276cdd3c7cced0b53be2aef4a72ad162Test
https://europepmc.org/articles/PMC4482969Test/

المؤلفون: Jennifer A. Chan, Uri Tabori, James T. Rutka, Keith L. Ligon, Patricia Rakopoulos, Peter N. Ray, Cynthia Hawkins, Jason D. Pole, Rahul Krishnatry, Cindy Zhang, James Stavropoulos, Vilma Navickiene, Annie Huang, Michael D. Taylor, Ana Guerreiro Stucklin, Adam Shlien, Eric Bouffet, Mary Shago, Mark T. Greenberg, Marc Remke, Pawel Buczkowicz, Martin Li, Doua Bakry, Vijay Ramaswamy, Peter B. Dirks, Edwin J. Young, Noa Alon, Daniele Merico, Pedro Castelo-Branco, Matthew Mistry, Suzanne Laughlin, Nataliya Zhukova, Joshua Mangerel, David Malkin

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Male, Proto-Oncogene Proteins B-raf, Cancer Research, Adolescent, Duplication, Treatment outcome, medicine.disease_cause, Genomic landscape, Fusion gene, Central-nervous-system, Histone H3.3, Glioma, medicine, Humans, Point Mutation, Child, neoplasms, Cyclin-Dependent Kinase Inhibitor p16, High-Grade Glioma, Tumors, Retrospective Studies, Mutation, Pilocytic astrocytomas, business.industry, Brain Neoplasms, Point mutation, Disease progression, Follow up studies, Infant, ORIGINAL REPORTS, Telomere, medicine.disease, CDKN2A Deletion, Chromatin, Tert promoter mutations, Cell Transformation, Neoplastic, Treatment Outcome, Oncology, Child, Preschool, Cancer research, Disease Progression, Female, business, Glioblastoma, Gene Deletion, Intrinsic pontine glioma, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c3979a3c12d06d486144ad0d62e502Test
https://pubmed.ncbi.nlm.nih.gov/25667289Test

المؤلفون: Lise Bjørkhaug, Janne Molnes, Oddmund Søvik, Faruk Alpay, Stella Odili, Franz M. Matschinsky, Jørn V. Sagen, Doua Bakry, S. Ümit Sarici, Pål R. Njølstad, Anders Molven, Naim Shehadeh

المصدر: Diabetes. 52:2854-2860

مصطلحات موضوعية: medicine.medical_specialty, Glucokinase, Endocrinology, Diabetes and Metabolism, Birth weight, Permanent neonatal diabetes mellitus, Biology, Compound heterozygosity, medicine.disease, Diabetes mellitus genetics, Endocrinology, Inborn error of metabolism, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, Missense mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9b757be04d5291c95b53908eb7a07e87Test
https://doi.org/10.2337/diabetes.52.11.2854Test

المؤلفون: David Malkin, Matthew F. Kalady, Rina Dvir, Lynette S. Penney, Brandie Leach, Roula A. Farah, Pavel N. Pichurin, Brittany Campbell, Doua Bakry, Uri Tabori, Melyssa Aronson, Simon C. Ling, Qasim Alharbi, Andrea L. Rideout, Revital Kariv, Musa Alharbi, Paul Kortan, Linda Hasadsri, Steven Gallinger, Kara Semotiuk, Harriet Druker, Ronit Elhasid, Shamvil Ashraf, Alain Sayad, Helen S. L. Chan, Hagit Baris Feldman, Mohsin Rashid, Shlomi Cohen, Hala Rimawi, Douglas L. Riegert-Johnson, Zane Cohen, Carol Durno, Spring Holter

المصدر: Gastroenterology. 148:S-110

مصطلحات موضوعية: GI Findings, Pathology, medicine.medical_specialty, Deficiency syndrome, Hepatology, business.industry, Gastroenterology, Medicine, DNA mismatch repair, In patient, business, Bioinformatics, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d461e8a6372e1df1e16dae2693b09b6eTest
https://doi.org/10.1016/s0016-5085Test(15)30380-2