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List of works by Mathilde Gay-Bellile

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

scientific article published on 27 June 2016

BRACAVENIR - impact of a psychoeducational intervention on expectations and coping in young women (aged 18-30 years) exposed to a high familial breast/ovarian cancer risk: study protocol for a randomized controlled trial

scientific article published on 21 October 2016

BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer

scientific article published on 27 February 2019

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

scientific article published on 6 August 2014

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

scientific article published on 25 November 2014

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

scientific article published on 18 April 2014

ERCC1 and telomere status in breast tumours treated with neoadjuvant chemotherapy and their association with patient prognosis

scientific article

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing

scientific article published on 31 August 2018

Feedback of extended panel sequencing in 1,530 patients referred for suspicion of hereditary predisposition to adult cancers

scientific article published on 12 October 2020

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

scientific article published on 2 September 2015

Is BRCA2 involved in early onset colorectal cancer risk?

scientific article published on 26 December 2019

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant

scientific article published on 01 October 2011

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

scientific article published on 14 August 2014

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

scientific article published on 24 August 2017

Telomere status in chronic lymphocytic leukemia with TP53 disruption.

scientific article

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