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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 -
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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
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المؤلفون: Anna Benet-Pagès, Andreas Laner, Elke Holinski-Feder, B. Neitzel
المصدر: Familial cancer. 19(3)
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, endocrine system diseases, Five prime untranslated region, Genotyping Techniques, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, 030105 genetics & heredity, Biology, Epigenetic Repression, Polymerase Chain Reaction, Germline, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Germany, Genetics, medicine, South east, Humans, Genetic Testing, skin and connective tissue diseases, Promoter Regions, Genetic, Genetics (clinical), Genetic testing, Sanger sequencing, Ovarian Neoplasms, medicine.diagnostic_test, Genetic Carrier Screening, Promoter, Sequence Analysis, DNA, medicine.disease, Human genetics, Oncology, 030220 oncology & carcinogenesis, symbols, Female, Ovarian cancer, 5' Untranslated Regions
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b41f20f85d8d6955afd1be99e77d84Test
https://pubmed.ncbi.nlm.nih.gov/32200540Test -
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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 -
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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 -
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المؤلفون: Holger Thiele, Elke Holinski-Feder, Michael Kloth, Markus M. Nöthen, Gabriela Möslein, Richard P. Lifton, Reinhard Büttner, Glen Kristiansen, Bixiao Zhao, Jonathan Marquez, Inga Hinrichsen, Janine Altmüller, Andreas Laner, Sukanya Horpaopan, Jutta Kirfel, Angela Brieger, Aylar Tafazzoli, Stefanie Holzapfel, Regina C. Betz, Nicolaus Friedrichs, Ronja Adam, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Giancarlo Marra, Dietlinde Stienen, Katrin Kayser, Stefan Aretz
المصدر: The American Journal of Human Genetics. 99(2):337-351
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Adenomatous polyposis coli, DNA Mutational Analysis, Genes, Recessive, Article, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, MUTYH, Genetics, Humans, Exome, Genetics(clinical), ddc:610, Alleles, Germ-Line Mutation, Genetics (clinical), Exome sequencing, Mismatch Repair Endonuclease PMS2, biology, POLD1, Middle Aged, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Adenomatous Polyposis Coli, MSH3, Child, Preschool, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, biology.protein, Cancer research, Female, Colorectal Neoplasms
وصف الملف: application/octet-stream
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41921d5917d6a1c2d7d2e3842f11d595Test
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المؤلفون: Markus M. Nöthen, Ronja Adam, Per Hoffmann, Sven Perner, Michal R. Schweiger, Richard P. Lifton, Andreas Laner, Sukanya Horpaopan, Tim Becker, Bixiao Zhao, Jutta Kirfel, Bernd Timmermann, Sophia Peters, Isabel Spier, Stefanie Holzapfel, Stefan Aretz, Martin Kerick, Dmitriy Drichel, Elke Holinski-Feder, Glen Kristiansen
المصدر: Journal of Medical Genetics
Journal of medical genetics 53(3), 172-179 (2015). doi:10.1136/jmedgenet-2015-103468مصطلحات موضوعية: Adult, 0301 basic medicine, Mutation rate, Genes, APC, Adolescent, Adenomatous polyposis coli, Colorectal cancer, genetics [Adenomatous Polyposis Coli], Familial adenomatous polyposis, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Germline mutation, Mutation Rate, MUTYH, Genetics, medicine, Humans, ddc:610, Genetics (clinical), Sanger sequencing, biology, POLD1, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, genetics [Colorectal Neoplasms], 030104 developmental biology, Adenomatous Polyposis Coli, 030220 oncology & carcinogenesis, Mutation, symbols, biology.protein, Cancer research, Colorectal Neoplasms
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689a1ca3fae03ebd70e3e45bd747e0abTest
https://doi.org/10.1136/jmedgenet-2015-103468Test