Publications by authors named "J Bombled"

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Sandrine M Caputo, Lisa Golmard, Mélanie Léone, Francesca Damiola, Marine Guillaud-Bataille, Johny Bombled

Am J Hum Genet· October 2021

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High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.
Laurence Brugières, Audrey Remenieras, Gaëlle Pierron, Pascale Varlet, Sébastien Forget, Johny Bombled

J Clin Oncol· June 2012

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Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Johny Bombled, Sandrine Lefèvre

J Med Genet· April 2011

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Contribution of CDKN2A/P16 ( INK4A ), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma.
B Buecher, M Gauthier-Villars, L Desjardins, L Lumbroso-Le Rouic, C Levy, J Bombled

Fam Cancer· December 2010

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Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.
Marina Muzza, Daniela Cordella, Johny Bombled, Brigitte Bressac-de Paillerets, Fabiana Guizzardi

Eur J Endocrinol· April 2010

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