Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

Autor: J.M. van Hagen, J.N. van der Geest, R.S. van der Giessen, G.C. Lagers-van Haselen, H.J.F.M.M. Eussen, J.J.P. Gille, L.C.P. Govaerts, C.H. Wouters, I.F.M. de Coo, C.C. Hoogenraad, S.K.E. Koekkoek, M.A. Frens, N. van Camp, A. van der Linden, M.C.E. Jansweijer, S.S. Thorgeirsson, C.I. De Zeeuw

Publikováno v: Neurobiology of Disease, Vol 26, Iss 1, Pp 112-124 (2007)

Williams Syndrome (WS, [MIM 194050]) is a disorder caused by a hemizygous deletion of 25–30 genes on chromosome 7q11.23. Several of these genes including those encoding cytoplasmic linker protein-115 (CYLN2) and general transcription factors (GTF2I

Externí odkaz: https://doaj.org/article/a1a366c5a17b41af913e6710a76a0a3d

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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

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

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

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