Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study

Autor: Manju Ghosh, Eric Smeets, Sheffali Gulati, Leopold M. G. Curfs, Kees E. P. van Roozendaal, Neerja Gupta, Madhulika Kabra, Rajni Khajuria, Savita Sapra

Publikováno v: Journal of Translational Genetics and Genomics.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52c36f529f5214467a43577b1fa1333b
https://doi.org/10.20517/jtgg.2020.06

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

Autor: Mia M Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M Korn, Candace Guiducci, Ayellet V Segrè, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B L Hogervorst, Matti A Rookus, J Margriet Collée, Nicoline Hoogerbrugge, Kees E P van Roozendaal, HEBON Study Collaborators, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone, Linda Van Le, Stephanie V Blank, Trinidad Caldés, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Adalgeir Arason, Oskar T Johannsson, Rosa B Barkardottir, Peter Devilee, Olofunmilayo I Olopade, Susan L Neuhausen, Xianshu Wang, Zachary S Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Alessandra Viel, Paolo Radice, Catherine M Phelan, Steven Narod, Gad Rennert, Flavio Lejbkowicz, Anath Flugelman, Irene L Andrulis, Gord Glendon, Hilmi Ozcelik, OCGN, Amanda E Toland, Marco Montagna, Emma D'Andrea, Eitan Friedman, Yael Laitman, Ake Borg, Mary Beattie, Susan J Ramus, Susan M Domchek, Katherine L Nathanson, Tim Rebbeck, Amanda B Spurdle, Xiaoqing Chen, Helene Holland, kConFab, Esther M John, John L Hopper, Saundra S Buys, Mary B Daly, Melissa C Southey, Mary Beth Terry, Nadine Tung, Thomas V Overeem Hansen, Finn C Nielsen, Mark H Greene, Phuong L Mai, Ana Osorio, Mercedes Durán, Raquel Andres, Javier Benítez, Jeffrey N Weitzel, Judy Garber, Ute Hamann, EMBRACE, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Radka Platte, D Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Lisa Walker, Jacqueline Eason, Julian Barwell, Andrew K Godwin, Rita K Schmutzler, Barbara Wappenschmidt, Stefanie Engert, Norbert Arnold, Dorothea Gadzicki, Michael Dean, Bert Gold, Robert J Klein, Fergus J Couch, Georgia Chenevix-Trench, Douglas F Easton, Mark J Daly, Antonis C Antoniou, David M Altshuler, Kenneth Offit

Publikováno v: PLoS Genetics, Vol 6, Iss 10, p e1001183 (2010)

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome

Externí odkaz: https://doaj.org/article/c7a705a431ab474c952a747fa473b1e8

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

Autor: Klaartje van Engelen, Rob B. van der Luijt, Janet R. Vos, Peter Devilee, Hanne Meijers-Heijboer, Arjen R. Mensenkamp, Mieke Kriege, Jan C. Oosterwijk, Marian J.E. Mourits, Geertruida H. de Bock, Natalia Teixeira, Kees E. P. van Roozendaal, Matti A. Rookus, Annemieke H. van der Hout

Publikováno v: European Journal of Human Genetics, 26, 848-857
European Journal of Human Genetics, 26(6), 848-857. Nature Publishing Group
HEBON 2018, ' The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers : can it be explained by the mutation position? ', European Journal of Human Genetics, vol. 26, no. 6, pp. 848-857 . https://doi.org/10.1038/s41431-018-0111-9
European Journal of Human Genetics, 26(6), 848-857
European Journal of Human Genetics, 26, 6, pp. 848-857
European journal of human genetics, 26, 848-857. Nature Publishing Group

This observational study aimed to investigate whether the reported association between family history (FH) of breast cancer (BC) or ovarian cancer (OC) and OC risks in BRCA1/2 mutation carriers can be explained by mutation position on the gene. In to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::577453b15280490e06ee13f8513c8069
http://hdl.handle.net/2066/191973

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Autor: Kees E. P. van Roozendaal, Constance T.R.M. Schrander-Stumpel, Nicky S.J. Halbach, Marian A. Maaskant, Leopold M. G. Curfs, Jean-Pierre Frijns, Rien Blok, Eric Smeets, Noortje van den Braak

Publikováno v: American Journal of Medical Genetics Part A, 158A(2), 340-350. Wiley

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retros

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b9c40399dac159ab3ef3707313eb98
https://doi.org/10.1002/ajmg.a.34418

Psychiatric illness in a cohort of adults with Prader-Willi syndrome

Autor: Kees E. P. van Roozendaal, Marian A. Maaskant, Philippe Collin, Leopold M.G. Curfs, Constance T.R.M. Schrander-Stumpel, H Boer, Margje Sinnema

Publikováno v: Research in Developmental Disabilities, 32(5), 1729-1735. Elsevier Science

Previous studies have suggested an association between PWS and comorbid psychiatric illness. Data on prevalence rates of psychopathology is still scarce. This paper describes a large-scale, systematic study investigating the prevalence of psychiatric

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c937867f34561802a06e549f69890179
https://cris.maastrichtuniversity.nl/en/publications/51b7e5a6-5a78-4edd-8468-3674434c0570