المؤلفون: Anna Benet-Pagès, Stephanie Kleinle, Oliver Peschel, Andreas Laner, Ulrike Schön, Anna Holzer, Elke Holinski-Feder, Florentine Scharf, Isabel Diebold

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
BMC Medical Genomics

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Internal medicine, lcsh:QH426-470, Computational biology, 030204 cardiovascular system & hematology, Biology, Sudden unexplained death, 03 medical and health sciences, Annotation, 0302 clinical medicine, Molecular autopsy, Human Phenotype Ontology, Exome Sequencing, Genetics, Humans, Exome, lcsh:RC31-1245, Gene, Genetics (clinical), Exome sequencing, Variant interpretation, Whole exome sequencing, Computational Biology, Human genetics, ddc, lcsh:Genetics, 030104 developmental biology, Phenotype, Technical Advance, Autopsy, HPO, DNA microarray

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0312665bed7c16bfa9405c4d8b6c161Test
https://doaj.org/article/08a11a22f2ea42599a42a39be34627aaTest

المؤلفون: Elke Holinski-Feder, Janine Graf, Brigitte Schönfeld, Andreas Laner, Udo Koehler, Ariane Hallermayr, Anna Benet-Pagès

المصدر: Clinical Case Reports

مصطلحات موضوعية: 0301 basic medicine, NR_023343.1:n.116A>C, Case Report, Nucleotide substitution, Case Reports, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Critical regions, Medicine, RNU4ATAC gene, Nucleotide, Gene, Roifman Syndrome, Roifman syndrome, Genetics, chemistry.chemical_classification, NR_023343.1:n.13C>T, business.industry, RNU4ATAC, clinical exome sequencing, General Medicine, minor intron splicing, 030104 developmental biology, chemistry, snRNA U4atac, business, 030217 neurology & neurosurgery, Coding (social sciences)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2bc486981ba76c51499c643ba1d996Test
https://doi.org/10.1002/ccr3.1830Test

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: 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

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-2015-103468

مصطلحات 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

المؤلفون: Mário Sousa, Julie Rath, Manuela M. Santos, Jorge Oliveira, Emília Vieira, Márcia E. Oliveira, Thomas L. Winder, Angela Gruber, T. Lourenço, José Pedro Vieira, Rosário Santos, Luciano Almendra, I. Fineza, Ana L. Gonçalves, Jocelyn Schroeder, Teresa Coelho, A. Sousa, Manuel Melo-Pires, Johan T. den Dunnen, Márcio Cardoso, Andreas Laner, Luís Negrão, Ricardo Taipa

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: 0301 basic medicine, Genotype, HDE GEN, HDE NEU PED, Gene mutation, Biology, Bioinformatics, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Missense mutation, Humans, Muscular dystrophy, Genetics (clinical), Alleles, Genetic Association Studies, Muscle weakness, Brain, Computational Biology, Genetic Variation, medicine.disease, Immunohistochemistry, Magnetic Resonance Imaging, 030104 developmental biology, Variome, Neonatal hypotonia, Phenotype, Failure to thrive, Mutation, Congenital muscular dystrophy, Laminin, medicine.symptom, Databases, Nucleic Acid, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c04cd6b5e71af867bcdbbbc92a1fd80dTest
https://pubmed.ncbi.nlm.nih.gov/30055037Test

المؤلفون: Michal R. Schweiger, Stefan Aretz, Ronja Adam, Bernd Timmermann, Sven Perner, Sukanya Horpaopan, Dmitriy Drichel, Richard P. Lifton, Markus M. Nöthen, Tim Becker, Andreas Laner, Per Hoffmann, Bixiao Zhao, Sophia Peters, Isabel Spier, Holger Thiele, Martin Kerick, Janine Altmüller, Stefanie Holzapfel, Elke Holinski-Feder

المصدر: Famillial Cancer
Familial cancer 15(2), 281-288 (2016). doi:10.1007/s10689-016-9870-z

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Adenomatous polyposis coli, Colorectal adenoma, genetics [Adenomatous Polyposis Coli], Ion Channels, Familial adenomatous polyposis, Adenomatous Polyps, 03 medical and health sciences, Germline mutation, MUTYH, Genetics, medicine, Humans, PIEZO1 protein, human, Exome, Genetic Predisposition to Disease, ddc:610, Germ-Line Mutation, Genetics (clinical), Exome sequencing, Aged, Desmocollins, Massive parallel sequencing, biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, genetics [Ion Channels], Middle Aged, genetics [Desmocollins], medicine.disease, genetics [Adenomatous Polyps], DSC2 protein, human, 030104 developmental biology, Adenomatous Polyposis Coli, Oncology, biology.protein, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ac9aa6b6b9e1709fe1ae1610f8e08cTest
https://hdl.handle.net/11858/00-001M-0000-0029-6B80-711858/00-001M-0000-0029-6B82-3Test