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Nucleic Acids Research|October 13, 2004
Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 geneC Dehainault, A Laugé, V Caux-Moncoutier, et al.
American Journal of Medical Genetics|February 25, 1998
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndromeM Bahuau, C Houdayer, B Assouline, et al.
Revue Neurologique|January 1, 1992
[Creutzfeldt-Jakob disease in 4 children treated with growth hormone]T Billette de Villemeur, M Gourmelen, P Beauvais, et al.
Brain : a Journal of Neurology|January 19, 2008
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrumC Ewenczyk, A Leroux, A Roubergue, et al.
Annales De Genetique|August 6, 1999
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease traitC Houdayer, V Soupre, M Rosenberg-Bourgin, et al.
Human Mutation|January 15, 2004
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSFC Houdayer, M Gauthier-Villars, A Laugé, et al.
Human Mutation|November 26, 1999
Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiencyM Tredano, R M van Elburg, A G Kaspers, et al.
Familial Cancer|September 16, 2010
Contribution of CDKN2A/P16 ( INK4A ), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanomaB Buecher, M Gauthier-Villars, L Desjardins, et al.
European Journal of Haematology|September 28, 2000
Acute clinical events in 299 homozygous sickle cell patients living in France. French Study Group on Sickle Cell DiseaseM G Neonato, M Guilloud-Bataille, P Beauvais, et al.
Breast Cancer Research and Treatment|December 14, 2017
Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predispositionE Santana Dos Santos, S M Caputo, L Castera, et al.
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