Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Fred H Menko"'
Autor:
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006765 (2017)
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nons
Externí odkaz:
https://doaj.org/article/53dbc2752fd7400fb3a74d5fa6f8649b
Autor:
Lieke M C Gijezen, Marigje Vernooij, Herm Martens, Charlene E U Oduber, Charles J M Henquet, Theo M Starink, Martin H Prins, Fred H Menko, Patty J Nelemans, Maurice A M van Steensel
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99071 (2014)
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterised by the occurrence of benign, mostly facial, skin tumours called fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax and an increased renal cancer risk. Cu
Externí odkaz:
https://doaj.org/article/0442248d0e704b08977c88ccf54d3d75
Autor:
Petra van der Groep, Paul J van Diest, Yvonne H C M Smolders, Margreet G E M Ausems, Rob B van der Luijt, Fred H Menko, Joost Bart, Elisabeth G E de Vries, Elsken van der Wall
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e56055 (2013)
Recent studies have revealed that BRCA1 and BRCA2 germline mutation-related breast cancers show frequent overexpression of hypoxia inducible factor-1α (HIF-1α), the key regulator of the hypoxia response. However, the question remained whether hypox
Externí odkaz:
https://doaj.org/article/ca6ec25253ea49c0af71564ae5eb3ccd
Autor:
Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz
Publikováno v:
van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group
Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodisco
Publikováno v:
European journal of medical genetics. 66(2)
Autor:
Irma, van de Beek, Iris E, Glykofridis, Michael W T, Tanck, Monique N H, Luijten, Theo M, Starink, Jesper A, Balk, Paul C, Johannesma, Eric, Hennekam, Maurice J B, van den Hoff, Quinn D, Gunst, Johan J P, Gille, Abeltje M, Polstra, Pieter E, Postmus, Maurice A M, van Steensel, Alex V, Postma, Rob M F, Wolthuis, Fred H, Menko, Arjan C, Houweling, Quinten, Waisfisz
Publikováno v:
Journal of human genetics.
Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodisco
Autor:
Jan C. Oosterwijk, Liesbeth Claassen, Fred H. Menko, Danielle R. M. Timmermans, Christi J. van Asperen, Lidewij Henneman
Publikováno v:
Henneman, L, van Asperen, C J, Oosterwijk, J C, Menko, F H, Claassen, L & Timmermans, D R M 2020, ' Do preferred risk formats lead to better understanding? A multicenter controlled trial on communicating familial breast cancer risks using different risk formats ', Patient Preference and Adherence, vol. 14, pp. 333-342 . https://doi.org/10.2147/PPA.S232941
Patient Preference and Adherence, 14, 333-342. DOVE MEDICAL PRESS LTD
Patient preference and adherence
Patient Preference and Adherence, 14, 333-342. Dove Medical Press Ltd.
Patient Preference and Adherence, 14, 333-342. DOVE MEDICAL PRESS LTD
Patient preference and adherence
Patient Preference and Adherence, 14, 333-342. Dove Medical Press Ltd.
Lidewij Henneman,1 Christi J van Asperen,2 Jan C Oosterwijk,3 Fred H Menko,4 Liesbeth Claassen,5 Daniëlle RM Timmermans5 1Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, Amsterdam, the Netherlands; 2Department of Clinical Genetic
Autor:
Fred H. Menko, Kim Monkhorst, Frans B.L. Hogervorst, Efraim H. Rosenberg, Muriel A. Adank, Mariëlle W.G. Ruijs, Eveline M.A. Bleiker, Gabe S. Sonke, Nicola S. Russell, Hester S.A. Oldenburg, Lizet E. van der Kolk
Publikováno v:
Critical Reviews in Oncology/Hematology. 176:103642
Current methods of next generation sequencing may simultaneously detect multiple germline breast cancer susceptibility variants. However, it is a challenge to maximize the clinical benefit of genetic analysis for patients and family members while min
Autor:
Lieske H. Schrijver, Antonis C. Antoniou, Håkan Olsson, Thea M. Mooij, Marie-José Roos-Blom, Leyla Azarang, Julian Adlard, Munaza Ahmed, Daniel Barrowdale, Rosemarie Davidson, Alan Donaldson, Ros Eeles, D. Gareth Evans, Debra Frost, Alex Henderson, Louise Izatt, Kai-Ren Ong, Valérie Bonadona, Isabelle Coupier, Laurence Faivre, Jean-Pierre Fricker, Paul Gesta, Klaartje van Engelen, Agnes Jager, Fred H. Menko, Marian J.E. Mourits, Christian F. Singer, Yen Y. Tan, Lenka Foretova, Marie Navratilova, Rita K. Schmutzler, Carolina Ellberg, Anne-Marie Gerdes, Trinidad Caldes, Jacques Simard, Edith Olah, Anna Jakubowska, Johanna Rantala, Ana Osorio, John L. Hopper, Kelly-Anne Phillips, Roger L. Milne, Mary Beth Terry, Catherine Noguès, Christoph Engel, Karin Kast, David E. Goldgar, Flora E. van Leeuwen, Douglas F. Easton, Nadine Andrieu, Matti A. Rookus, Lilian Laborde, Pauline Pontois, Emanuelle Breysse, Margot Berline, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Chrystelle Colas, Olivier Caron, Emmanuelle Mouret-Fourme, Claire Saule, Christine Lasset, Sophie Dussard, Pascaline Berthet, Elisabeth Luporsi, Véronique Mari, Laurence Gladieff, Stéphanie Chieze-Valéro, Jessica Moretta, Hagay Sobol, François Eisinger, Cornel Popovici, Michel Longy, Louise Grivelli, Florent Soubrier, Patrick Benusiglio, Pascal Pujol, Carole Corsini, Marie-Emmanuelle Morin-Meschin, Alain Lortholary, Claude Adenis, Audrey Maillez, Tan Dat Nguyen, Capucine Delnatte, Caroline Abadie, Julie Tinat, Isabelle Tennevet, Christine Maugard, Yves-Jean Bignon, Mathilde Gay Bellile, Clotilde Penet, Hélène Dreyfus, Odile Cohen-Haguenauer, Brigitte Gilbert, Laurence Venat-Bouvet, Dominique Leroux, Clémentine Legrand, Hélène Zattara-Cannoni, Valérie Layet, Elodie Lacaze, Sandra Fert-Ferrer, Odile Bera, Brigitte Gilbert-Dussardier, David Tougeron, Hakima Lallaoui, M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, M.A. Adank, M.K. Schmidt, D.J. Jenner, J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, I.A. Boere, C.J. van Asperen, P. Devilee, R.B. van der Luijt, T.C.T.E.F. van Cronenburg, M.R. Wevers, A.R. Mensenkamp, M.G.E.M. Ausems, M.J. Koudijs, I. van de Beek, K. van Engelen, J.J.P. Gille, E.B. Gómez García, M.J. Blok, M. de Boer, L.P.V. Berger, A.H. van der Hout, M.J.E. Mourits, G.H. de Bock, S. Siesling, J. Verloop, E.C. van den Broek
Publikováno v:
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. MOSBY-ELSEVIER
Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 51.e1-51.e17
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
American journal of obstetrics and gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
Schrijver, L H, Antoniou, A C, Olsson, H, Mooij, T M, Roos-Blom, M J, Azarang, L, Adlard, J, Ahmed, M, Barrowdale, D, Davidson, R, Donaldson, A, Eeles, R, Evans, D G, Frost, D, Henderson, A, Izatt, L, Ong, K R, Bonadona, V, Coupier, I, Faivre, L, Fricker, J P, Gesta, P, van Engelen, K, Jager, A, Menko, F H, Mourits, M J E, Singer, C F, Tan, Y Y, Foretova, L, Navratilova, M, Schmutzler, R K, Ellberg, C, Gerdes, A M, Caldes, T, Simard, J, Olah, E, Jakubowska, A, Rantala, J, Osorio, A, Hopper, J L, Phillips, K A, Milne, R L, Beth Terry, M, Noguès, C, Engel, C, Kast, K, Goldgar, D E, van Leeuwen, F E, Easton, D F, Andrieu, N, Rookus, M A & Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
EMBRACE, GENEPSO, HEBON, IBCCS & et al. 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study ', American Journal of Obstetrics and Gynecology . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 1, pp. 51.e1-51.e17
Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 51.e1-51.e17
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
American journal of obstetrics and gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
Schrijver, L H, Antoniou, A C, Olsson, H, Mooij, T M, Roos-Blom, M J, Azarang, L, Adlard, J, Ahmed, M, Barrowdale, D, Davidson, R, Donaldson, A, Eeles, R, Evans, D G, Frost, D, Henderson, A, Izatt, L, Ong, K R, Bonadona, V, Coupier, I, Faivre, L, Fricker, J P, Gesta, P, van Engelen, K, Jager, A, Menko, F H, Mourits, M J E, Singer, C F, Tan, Y Y, Foretova, L, Navratilova, M, Schmutzler, R K, Ellberg, C, Gerdes, A M, Caldes, T, Simard, J, Olah, E, Jakubowska, A, Rantala, J, Osorio, A, Hopper, J L, Phillips, K A, Milne, R L, Beth Terry, M, Noguès, C, Engel, C, Kast, K, Goldgar, D E, van Leeuwen, F E, Easton, D F, Andrieu, N, Rookus, M A & Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
EMBRACE, GENEPSO, HEBON, IBCCS & et al. 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study ', American Journal of Obstetrics and Gynecology . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 1, pp. 51.e1-51.e17
Contains fulltext : 237895.pdf (Publisher’s version ) (Open Access) BACKGROUND: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects of using oral c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679a56d0abad49f333383dc486d3e8ab
http://www.ajog.org/article/S0002937821000387/pdf
http://www.ajog.org/article/S0002937821000387/pdf
Autor:
Frederik J. Hes, Jan Maarten Cobben, Hans Morreau, Romana T. Netea-Maier, Bruce H. R. Wolffenbuttel, Gerlof D. Valk, Karin van der Tuin, Fred H. Menko, Muriel A. Adank, Bernadette P M van Nesselrooij, Neveen A. T. Hamdy, Carli M. J. Tops, Jan C. Oosterwijk, Marjolijn C.J. Jongmans
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 102, 4534-4540
Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102, 12, pp. 4534-4540
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540
van der Tuin, K, Tops, C M J, Adank, M A, Cobben, J M, Hamdy, N A T, Jongmans, M C, Menko, F H, van Nesselrooij, B P M, Netea-Maier, R T, Oosterwijk, J C, Valk, G D, Wolffenbuttel, B H R, Hes, F J & Morreau, H 2017, ' CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism ', The Journal of clinical endocrinology and metabolism, vol. 102, no. 12, pp. 4534-4540 . https://doi.org/10.1210/jc.2017-01249
The Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. ENDOCRINE SOC
Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102, 12, pp. 4534-4540
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540
van der Tuin, K, Tops, C M J, Adank, M A, Cobben, J M, Hamdy, N A T, Jongmans, M C, Menko, F H, van Nesselrooij, B P M, Netea-Maier, R T, Oosterwijk, J C, Valk, G D, Wolffenbuttel, B H R, Hes, F J & Morreau, H 2017, ' CDC73-Related Disorders : Clinical Manifestations and Case Detection in Primary Hyperparathyroidism ', The Journal of clinical endocrinology and metabolism, vol. 102, no. 12, pp. 4534-4540 . https://doi.org/10.1210/jc.2017-01249
The Journal of clinical endocrinology and metabolism, 102(12), 4534-4540. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 102(12), 4534-4540. ENDOCRINE SOC
Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related dis