المؤلفون: Stefan Aretz, Andreas Laner, Verena Steinke-Lange, Melanie Locher, Katrin Kayser, Monika Morak, Anna Benet-Pages, Elke Holinski-Feder, Trisari Massdorf

المصدر: Familial Cancer. 19:161-167

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, DNA Copy Number Variations, 030105 genetics & heredity, Biology, MLH1, DNA Mismatch Repair, Germline, 03 medical and health sciences, Exon, 0302 clinical medicine, Germany, Genetics, PMS2, Humans, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Gene Rearrangement, Sequence Inversion, Breakpoint, High-Throughput Nucleotide Sequencing, Colorectal Neoplasms, Hereditary Nonpolyposis, Introns, digestive system diseases, MutS Homolog 2 Protein, Oncology, MSH2, 030220 oncology & carcinogenesis, DNA mismatch repair, MutL Protein Homolog 1, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d913ea5a66063623f066d575db2c5878Test
https://doi.org/10.1007/s10689-020-00159-4Test

المؤلفون: Andreas Laner, Anna Benet-Pagès, Monika Morak, Dimitrij Frishman, Anke Marie Arnold, Elke Holinski-Feder

المصدر: Eur J Hum Genet

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Biology, MLH1, Sensitivity and Specificity, Article, MutS Proteins, Genetics, medicine, PMS2, Humans, ddc:630, Genetic Testing, Copy-number variation, Genetics (clinical), Polymorphism, Genetic, High-Throughput Nucleotide Sequencing, Microsatellite instability, Sequence Analysis, DNA, Epithelial Cell Adhesion Molecule, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Introns, digestive system diseases, Lynch syndrome, ddc, MSH6, MutL Proteins, MSH3, MSH2

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a767e5ea1b702a96fb51d8554bd27924Test
https://doi.org/10.1038/s41431-019-0536-9Test

المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops

المصدر: Frontiers in Genetics
Frontiers in Genetics, 11. FRONTIERS MEDIA SA
Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: 0301 basic medicine, mismatch repair genes, lcsh:QH426-470, mRNA, Computational biology, Biology, 0604 Genetics, 1103 Clinical Sciences, 1801 Law, Settore MED/03 - GENETICA MEDICA, mRNA splicing, 03 medical and health sciences, 0302 clinical medicine, variant interpretation and classification, Genetics, Missense mutation, Indel, Gene, Genetics (clinical), Messenger RNA, Brief Research Report, MSH6, lcsh:Genetics, 030104 developmental biology, Lynch syndrome, variant type, MSH2, 030220 oncology & carcinogenesis, RNA splicing, Molecular Medicine, DNA mismatch repair, splicing aberrations

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d85f0449e4dd3951a292aaa40f19af4Test

المؤلفون: Anna Benet-Pagès, Gisela Keller, Monika Morak, Daniela Gonzales-Fassrainer, Ayseguel Ibisler, Ellen Jessen, Melanie Locher, Andreas Laner, Trisari Massdorf, Elke Holinski-Feder, Anke M. Nissen

المصدر: Journal of Medical Genetics. 55:240-248

مصطلحات موضوعية: 0301 basic medicine, Genetics, Promoter, Methylation, Biology, MLH1, digestive system diseases, MSH6, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, MSH2, 030220 oncology & carcinogenesis, PMS2, Epigenetics, Allele, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc9f51feb632f0f67e2e51f301b255bcTest
https://doi.org/10.1136/jmedgenet-2017-104744Test

المؤلفون: Anna Benet-Pagès, Martina Kerscher, Gisela Keller, Sarah Käsbauer, Andreas Laner, Elke Holinski-Feder, Monika Morak, Trisari Massdorf, Anke M. Nissen, Hans K. Schackert

المصدر: Familial Cancer. 16:491-500

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Loss of Heterozygosity, Biology, MLH1, Germline, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, neoplasms, Germ-Line Mutation, Genetics (clinical), nutritional and metabolic diseases, Microsatellite instability, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Pedigree, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, 030104 developmental biology, Oncology, MSH3, MSH2, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, Cancer research, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed8f71a51098951e37ae05a1de8eeb9Test
https://doi.org/10.1007/s10689-017-9975-zTest

المؤلفون: Gisela Keller, Andreas Laner, Albert de la Chapelle, Barbara Heidenreich, Elke Holinski-Feder, Monika Morak, Heather Hampel

المصدر: European journal of human genetics : EJHG. 22(11)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repair, DNA Mutational Analysis, Short Report, Biology, medicine.disease_cause, DNA Mismatch Repair, DNA Glycosylases, Germline mutation, MUTYH, Genetics, medicine, Humans, neoplasms, Genetics (clinical), Alleles, Germ-Line Mutation, Mutation, Homozygote, Microsatellite instability, nutritional and metabolic diseases, Exons, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Lynch syndrome, digestive system diseases, Pedigree, MSH2, Cancer research, DNA mismatch repair, Female, Microsatellite Instability, KRAS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa96ab7fe5a8f0b0e5372984453497eTest
https://pubmed.ncbi.nlm.nih.gov/24518836Test