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: Monika Morak, Marta Pineda, Alexandra Martins, Pascaline Gaildrat, Hélène Tubeuf, Aurélie Drouet, Carolina Gómez, Estela Dámaso, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Andreas Laner, Julie Hauchard, Karine Chauris, Elke Holinski-Feder, Gabriel Capellá

المصدر: European journal of human genetics : EJHG. 30(9)

مصطلحات موضوعية: Alternative Splicing, DNA Repair Enzymes, Transcription, Genetic, Loss of Function Mutation, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Genetics, Humans, Protein Isoforms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8a12a3470ee37628b61410b1cd3809Test
https://pubmed.ncbi.nlm.nih.gov/35676339Test

المؤلفون: Udo Koehler, Tanja Haeusser, Brigitte Mauracher, Andreas Laner, Christiane Kling, Nils Rahner, Kerstin Schaefer, Verena Steinke-Lange, Monika Morak, Jessica Bailey, Susanne Keinath, Elke Holinski-Feder, Trisari Massdorf

المصدر: Eur J Hum Genet

مصطلحات موضوعية: DNA, Complementary, RNA Stability, Mutation, Missense, Biology, DNA Mismatch Repair, Article, Complementary DNA, Genetics, Humans, Missense mutation, RNA, Messenger, Allele, Gene, Alleles, Genetics (clinical), Messenger RNA, RNA, Exons, Nonsense Mediated mRNA Decay, Alternative Splicing, Gene Expression Regulation, Codon, Nonsense, RNA splicing, DNA mismatch repair, RNA Splice Sites, Colorectal Neoplasms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26b955d50e7382adc08238bc3b0c6f4Test
https://doi.org/10.1038/s41431-019-0472-8Test

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: 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