C. Abadie

发表

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

J. Millán, H. Bolz, M. Claustres, 2012, Human mutation.

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

C. Houdayer, P. Pujol, C. Delnatte, 2019, Molecular genetics & genomic medicine.

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study

S. Richard, J. Correas, D. Chauveau, 2014, Orphanet Journal of Rare Diseases.

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer

T. Frebourg, B. Clarisse, F. Joly, 2017, Familial Cancer.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

P. Laurent-Puig, J. Duffour, J. Saurin, 2015, European Journal of Human Genetics.

Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

N. Rioux-Leclercq, J. Andrieux, S. Odent, 2013, European journal of medical genetics.

[Breast and ovarian cancer due to BRCA1&2 hereditary cancer predisposition syndrome and reproduction: literature review].

C. Abadie, X. Fritel, K. Morcel, 2015, Journal de gynecologie, obstetrique et biologie de la reproduction.

[Genetic predisposition to childhood cancer].

I. Coupier, M. Gauthier‐Villars, C. Abadie, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.

I. Coupier, C. Abadie, I. Netchine, 2010, European journal of medical genetics.

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman

S. Bézieau, C. Abadie, O. Kerdraon, 2021, Familial Cancer.

Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study

J. Saurin, J. Fricker, L. Faivre, 2019, Diseases of the colon and rectum.

Modulation of DNA Methylation/Demethylation Reactions Induced by Nutraceuticals and Pollutants of Exposome Can Promote a C > T Mutation in the Breast Cancer Predisposing Gene PALB2

P. Cartron, C. Abadie, Gwenola Bougras-Cartron, 2022, Epigenomes.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel–Lindau gene in the ccRCC

O. Delalande, X. Le Goff, A. Couturier, 2022, British Journal of Cancer.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Neuroblastoma and tooth abnormalities: a common history?

M. Bonnaure-Mallet, C. Abadie, V. Gandemer, 2013, Oral oncology.

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families

T. Frebourg, Baptiste Brault, P. Berthet, 2018, Genetics in Medicine.

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

A. Nicolas, M. Stern, D. Stoppa-Lyonnet, 2017, European Journal of Human Genetics.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

R. Eeles, J. Hopper, D. Easton, 2021, American journal of obstetrics and gynecology.

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families

T. Frebourg, Baptiste Brault, P. Berthet, 2018, Genetics in Medicine.

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

M. Claustres, A. Roux, A. Janecke, 2010, Human mutation.

Non‐USH2A mutations in USH2 patients

P. Calvas, M. Claustres, S. Malcolm, 2012, Human mutation.

Radiation Therapy in a Perineal Squamous Cell Carcinoma in a Patient With Fanconi Anemia: A Case Report and Review of Literature

M. Mahé, C. Abadie, S. Supiot, 2020, Advances in radiation oncology.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Letter to the editor: Pregnancy and von Hippel-Lindau disease.

S. Richard, R. Giles, M. V. van Pampus, 2013, Journal of neurosurgery.