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Human Genetics|January 11, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeValérie Biancalana, Olivier Caron, Sabina Gallati, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|April 18, 2012
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of ageLaurence Brugières, Audrey Remenieras, Gaëlle Pierron, et al.
JCO Precision Oncology|June 7, 2024
Efficacy and Safety of Immune Checkpoint Blockade in Patients With Li-Fraumeni SyndromeMichele Bottosso, Benjamin Verret, Olivier Caron, et al.
BMC Medical Genetics|September 24, 2011
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predispositionDanièle Muller, Etienne Rouleau, Inès Schultz, et al.
Neurosurgery|April 9, 2015
An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case ReportBadih Daou, Marc Zanello, Pascale Varlet, et al.
Psycho-Oncology|October 16, 2013
Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?Christine Maheu, Anne-Deborah Bouhnik, Catherine Nogues, et al.
Clinical Breast Cancer|March 20, 2010
Characteristics, treatment, and outcome of breast cancers diagnosed in BRCA1 and BRCA2 gene mutation carriers in intensive screening programs including magnetic resonance imagingElisabeth Chéreau, Catherine Uzan, Corinne Balleyguier, et al.
European Journal of Cancer (Oxford, England : 1990)|September 11, 2024
HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndromeMichele Bottosso, Renata L Sandoval, Benjamin Verret, et al.
Nature Communications|April 10, 2014
Impact of genomic polymorphisms on the repertoire of human MHC class I-associated peptidesDiana Paola Granados, Dev Sriranganadane, Tariq Daouda, et al.
Bulletin Du Cancer|May 5, 2020
[MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa)]Marie-Pierre Buisine, Valérie Bonadona, Stéphanie Baert-Desurmont, et al.
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