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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Garcia-Pelaez J, et al. Among authors: brems h. Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. Lancet Oncol. 2023. PMID: 36436516 Free PMC article.
Unequal meiotic crossover: a frequent cause of NF1 microdeletions.
López Correa C, Brems H, Lázaro C, Marynen P, Legius E. López Correa C, et al. Among authors: brems h. Am J Hum Genet. 2000 Jun;66(6):1969-74. doi: 10.1086/302920. Epub 2000 Apr 20. Am J Hum Genet. 2000. PMID: 10775528 Free PMC article.
Recombination hotspot in NF1 microdeletion patients.
López-Correa C, Dorschner M, Brems H, Lázaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. López-Correa C, et al. Among authors: brems h. Hum Mol Genet. 2001 Jun 15;10(13):1387-92. doi: 10.1093/hmg/10.13.1387. Hum Mol Genet. 2001. PMID: 11440991
Elevated risk for MPNST in NF1 microdeletion patients.
De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. De Raedt T, et al. Among authors: brems h. Am J Hum Genet. 2003 May;72(5):1288-92. doi: 10.1086/374821. Epub 2003 Mar 26. Am J Hum Genet. 2003. PMID: 12660952 Free PMC article.
The NF1 tumor suppressor critically regulates TSC2 and mTOR.
Johannessen CM, Reczek EE, James MF, Brems H, Legius E, Cichowski K. Johannessen CM, et al. Among authors: brems h. Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8573-8. doi: 10.1073/pnas.0503224102. Epub 2005 Jun 3. Proc Natl Acad Sci U S A. 2005. PMID: 15937108 Free PMC article.
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