Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Anke M. Nissen"'
Autor:
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)
Abstract Background The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contributio
Externí odkaz:
https://doaj.org/article/a471ced28e4c4bb7ac5c073ec240e25d
Autor:
Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-14 (2018)
Abstract Background In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, which not only may i
Externí odkaz:
https://doaj.org/article/6deea8d410b04800addd158ba179a27c
Autor:
Eivind Hovig, Hélène Tubeuf, Sigve Nakken, Mev Dominguez-Valentin, Gabriel Capellá, Elke Holinski-Feder, D. Gareth Evans, Anke M. Nissen, Ben Davidson, Arild Holth, Alexandra Martins, Per Olaf Ekstrøm, Pål Møller, Monika Morak, Daniel Vodak
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Dipòsit Digital de la UB
Universidad de Barcelona
We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal cancer (CRC) and 19 multip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6cfda2d970d357a0ce9ccc7538736f8
http://hdl.handle.net/2445/168019
http://hdl.handle.net/2445/168019
Autor:
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
Publikováno v:
Journal of Medical Genetics. 55:240-248
BackgroundGermline defects in MLH1, MSH2, MSH6 and PMS2 predisposing for Lynch syndrome (LS) are mainly based on sequence changes, whereas a constitutional epimutation of MLH1(CEM) is exceptionally rare. This abnormal MLH1 promoter methylation is not
Autor:
Anna Benet-Pagès, Martina Kerscher, Gisela Keller, Sarah Käsbauer, Andreas Laner, Elke Holinski-Feder, Monika Morak, Trisari Massdorf, Anke M. Nissen, Hans K. Schackert
Publikováno v:
Familial Cancer. 16:491-500
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instabilit
Autor:
Eivind Hovig, D. Gareth Evans, Per Olaf Ekstrøm, Pål Møller, Hélène Tubeuf, Alexandra Martins, Elke Holinski-Feder, Monika Morak, Sigve Nakken, Daniel Vodak, Mev Dominguez-Valentin, Anke M. Nissen
Publikováno v:
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, BioMed Central, 2018, 16 (1), ⟨10.1186/s13053-018-0086-0⟩
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-14 (2018)
Dominguez Valentin, M, Evans, D G, Nakken, S, Tubeuf, H, Vodak, D, Ekstrøm, P O, Nissen, A M, Morak, M, Holinski-Feder, E, Martins, A, Møller, P & Hovig, E 2018, ' Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds ', Hereditary cancer in clinical practice, vol. 16, no. 4 . https://doi.org/10.1186/s13053-018-0086-0
Hereditary Cancer in Clinical Practice, BioMed Central, 2018, 16 (1), ⟨10.1186/s13053-018-0086-0⟩
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-14 (2018)
Dominguez Valentin, M, Evans, D G, Nakken, S, Tubeuf, H, Vodak, D, Ekstrøm, P O, Nissen, A M, Morak, M, Holinski-Feder, E, Martins, A, Møller, P & Hovig, E 2018, ' Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds ', Hereditary cancer in clinical practice, vol. 16, no. 4 . https://doi.org/10.1186/s13053-018-0086-0
Background In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, which not only may increase t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a3dec5419bbd493ad79813796ffd443
https://hal-normandie-univ.archives-ouvertes.fr/hal-02336104
https://hal-normandie-univ.archives-ouvertes.fr/hal-02336104
Autor:
Evelin Schröck, Shawn E. Parnell, Anke M. Nissen, Karl Hackmann, Irmingard Neuhann, Holger Thiele, Claudia Krause, Barbara Klink, Bernhard H. F. Weber, William B. Dobyns, Teresa Neuhann, Andrea Bier, Jens Schallner, Janine Altmüller, Anna Benet-Pagès, Anne Karin Kahlert, Wolfgang Berger, Andreas Rump, Ian A. Glass, Nataliya Di Donato, Barbora Novotna
Publikováno v:
Journal of Medical Genetics. 53:419-425
Background Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the ‘exosome component 2’ ( EXOSC2 ) gene. Methods Clinical ascertai
Autor:
Monika Morak, Eivind Hovig, Elke Holinski-Feder, Sigve Nakken, Anke M. Nissen, Mev Dominguez-Valentin, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Alexandra Martins, Pål Møller
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2018, 19 (1), ⟨10.1186/s12881-018-0533-9⟩
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)
BMC Medical Genetics, BioMed Central, 2018, 19 (1), ⟨10.1186/s12881-018-0533-9⟩
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)
Background The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contribution of gene
Autor:
Sigve Nakken, Per Olaf Ekstrøm, Eivind Hovig, Mev Dominguez-Valentin, Pål Møller, Monika Morak, Anke M. Nissen, Elke Holinski-Feder, Alexandra Martins, Hélène Tubeuf, Daniel Vodak
Publikováno v:
Familial Cancer
Familial Cancer, Springer Verlag (Germany), 2018, 17 (1), pp.141-153. ⟨10.1007/s10689-017-0011-0⟩
Familial Cancer, Springer Verlag (Germany), 2018, 17 (1), pp.141-153. ⟨10.1007/s10689-017-0011-0⟩
To study the potential contribution of genes other than BRCA1/2, PTEN, and TP53 to the biological and clinical characteristics of multiple early-onset cancers in Norwegian families, including early-onset breast cancer, Cowden-like and Li-Fraumeni-lik
Autor:
Monika, Morak, Ayseguel, Ibisler, Gisela, Keller, Ellen, Jessen, Andreas, Laner, Daniela, Gonzales-Fassrainer, Melanie, Locher, Trisari, Massdorf, Anke M, Nissen, Anna, Benet-Pagès, Elke, Holinski-Feder
Publikováno v:
Journal of medical genetics. 55(4)
Germline defects inWe analysed theWe detected 10 rareWe report the second promoter variant stably inducing a hereditary CEM. Concerning the classification of promoter variants, we discuss contradictory results from the literature for two variants, de