Maternal coffee consumption and biomarkers of reproductive health in young, adult sons: a cohort study

Autor: Langergaard, Mette Jørgensen, Ernst, Andreas, Bech, Bodil Hammer, Tøttenborg, Sandra Søgaard, Brix, Nis, Toft, Gunnar, Gaml-Sørensen, Anne, Hougaard, Karin Sørig, Arendt, Linn Håkonsen, Bonde, Jens Peter Ellekilde, Ramlau-Hansen, Cecilia Høst

Publikováno v: In Reproductive Toxicology December 2024 130

Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants

Autor: Jenny Wegert, Christian Vokuhl, Grace Collord, Martin Del Castillo Velasco-Herrera, Sarah J. Farndon, Charlotte Guzzo, Mette Jorgensen, John Anderson, Olga Slater, Catriona Duncan, Sabrina Bausenwein, Heike Streitenberger, Barbara Ziegler, Rhoikos Furtwängler, Norbert Graf, Michael R. Stratton, Peter J. Campbell, David TW Jones, Christian Koelsche, Stefan M. Pfister, William Mifsud, Neil Sebire, Monika Sparber-Sauer, Ewa Koscielniak, Andreas Rosenwald, Manfred Gessler, Sam Behjati

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-6 (2018)

Soft tissue tumors in infants encompass an overlapping spectrum of diseases posing unique diagnostic and clinical challenges. Here, the authors investigate the genetic basis of cryptogenic congenital mesoblastic nephroma and infantile fibrosarcoma la

Externí odkaz: https://doaj.org/article/62e3e5d944664e6c8173d5eb54868ff0

Impacto de la biología molecular en niños con tumor miofibroblástico inflamatorio ALK+. Reflexiones a partir de un caso clínico

Autor: Fernando Rafael Aguirregomezcorta, Kriti Hedge, Olga Slater, Ana Isabel Benito, Mette Jorgensen

Publikováno v: Anales de Pediatría. 98:387-388

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::031d90b4d2cfc852503a79647c80750f
https://doi.org/10.1016/j.anpedi.2023.02.013

A Nationwide Evaluation of Bevacizumab-based Treatments in Paediatric Low-Grade Glioma in the UK: Safety. Efficacy, Visual Morbidity and Outcomes

Autor: Katherine Green, Paraskevi Panagopoulou, Felice D’Arco, Patricia O’Hare, Richard Bowman, Bronwen Walters, Christine Dahl, Mette Jorgensen, Pritesh Patel, Olga Slater, Rehana Ahmed, Simon Bailey, Fernando Carceller, Rhiannon Collins, Elizabeth Corley, Martin English, Lisa Howells, Ahmed Kamal, John-Paul (JP) Kilday, Stephen Lowis, Blanche Lumb, Erika Pace, Susan Picton, Barry Pizer, Ayad Shafiq, Lena Uzunova, Harriet Wayman, Shaun Wilson, Darren Hargrave, Enrico Opocher

Publikováno v: Neuro-oncology.

Background Bevacizumab is increasingly used in children with pediatric low-grade glioma (PLGG) despite limited evidence. A nationwide UK service evaluation was conducted to provide larger cohort “real life” safety and efficacy data including func

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac26008817bf85dd45a58b2320a993e
https://pubmed.ncbi.nlm.nih.gov/36239316

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Autor: Léa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, Pia Alhopuro, Patrick R Benusiglio, Franck Bourdeaut, Ines B Brecht, Giada Del Baldo, Sandeep Kumar Dhanda, Maria Luisa Garrè, Corrie E M Gidding, Steffen Hirsch, Pauline Hoarau, Mette Jorgensen, Christian Kratz, Lucie Lafay-Cousin, Angela Mastronuzzi, Lorenza Pastorino, Stefan M Pfister, Christopher Schroeder, Miriam Jane Smith, Pia Vahteristo, Roseline Vibert, Catheline Vilain, Nicolas Waespe, Ingrid M Winship, D Gareth Evans, Laurence Brugieres

Publikováno v: Guerrini-Rousseau, L, Masliah-Planchon, J, Waszak, S M, Alhopuro, P, Benusiglio, P R, Bourdeaut, F, Brecht, I B, Del Baldo, G, Dhanda, S K, Garrè, M L, Gidding, C E M, Hirsch, S, Hoarau, P, Jorgensen, M, Kratz, C, Lafay-Cousin, L, Mastronuzzi, A, Pastorino, L, Pfister, S M, Schroeder, C, Smith, M J, Vahteristo, P, Vibert, R, Vilain, C, Waespe, N, Winship, I M, Evans, D G & Brugieres, L 2022, ' Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group ', Journal of Medical Genetics, vol. 59, no. 11, 108385, pp. 1123-1132 . https://doi.org/10.1136/jmedgenet-2021-108385
Guerrini-Rousseau, Léa; Masliah-Planchon, Julien; Waszak, Sebastian M; Alhopuro, Pia; Benusiglio, Patrick R; Bourdeaut, Franck; Brecht, Ines B; Del Baldo, Giada; Dhanda, Sandeep Kumar; Garrè, Maria Luisa; Gidding, Corrie E M; Hirsch, Steffen; Hoarau, Pauline; Jorgensen, Mette; Kratz, Christian; Lafay-Cousin, Lucie; Mastronuzzi, Angela; Pastorino, Lorenza; Pfister, Stefan M; Schroeder, Christopher; ... (2022). Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group. Journal of medical genetics, 59(11), pp. 1123-1132. BMJ Publishing Group 10.1136/jmedgenet-2021-108385

BackgroundLittle is known about risks associated with germlineSUFUpathogenic variants (PVs) known as a cancer predisposition syndrome.MethodsTo study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germlineSUFU

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f5904fe9dda00c7c07dce398cfdf5e2