Johny Bombled

Novel <i>FH</i> 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 et al. · Journal of Medical Genetics · 2011 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

High Frequency of Germline <i>SUFU</i> Mutations in Children With Desmoplastic/Nodular Medulloblastoma Younger Than 3 Years of Age

Laurence Brugières, Audrey Remenieras, Gaëlle Pierron et al. · Journal of Clinical Oncology · 2012 · 118 citations · Full text

Life Sciences, Genetics, Oncology +17

Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes

Nadem Soufir, Brigitte Bressac–de Paillerets, Laurence Desjardins et al. · British Journal of Cancer · 2000 · 53 citations · Full text

Medicine, Genetics, Oncology +17

Functional, structural, and genetic evaluation of 20<i>CDKN2A</i>germ line mutations identified in melanoma-prone families or patients

Caroline Kannengiesser, Sharon Brookes, Anna Gutierrez del Arroyo et al. · Human Mutation · 2009 · 42 citations

Life Sciences, Genetics, Molecular Genetics +17

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro

Marina Muzza, Daniela Cordella, Johny Bombled et al. · European Journal of Endocrinology · 2010 · 37 citations · Full text

Medicine, Genetics, Oncology +17