Works matching AU Gay-Bellile, Mathilde

Results: 17

Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 166, doi. 10.1111/cge.13864

By:

Cavaillé, Mathias;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Lepage, Mathis;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean

Publication type:

Article

Is BRCA2 involved in early onset colorectal cancer risk?

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 668, doi. 10.1111/cge.13679

By:

Gay‐Bellile, Mathilde;
Privat, Maud;
Martins, Alexandra;
Caputo, Sandrine M.;
Pebrel‐Richard, Céline;
Cavaillé, Mathias;
Viala, Sandrine;
Corsini, Carole;
Rodrigues, Michael;
Barnich, Nicolas;
Bidet, Yannick;
Uhrhammer, Nancy;
Bignon, Yves‐Jean

Publication type:

Article

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 369, doi. 10.1038/ejhg.2013.141

By:

Pebrel-Richard, Céline;
Debost-Legrand, Anne;
Eymard-Pierre, Eléonore;
Greze, Victoria;
Kemeny, Stéphan;
Gay-Bellile, Mathilde;
Gouas, Laetitia;
Tchirkov, Andreï;
Vago, Philippe;
Goumy, Carole;
Francannet, Christine

Publication type:

Article

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

Published in:

Journal of Pathology: Clinical Research, 2016, v. 2, n. 4, p. 234, doi. 10.1002/cjp2.52

By:

Gay-Bellile, Mathilde;
Romero, Pierre;
Cayre, Anne;
Véronèse, Lauren;
Privat, Maud;
Singh, Shalini;
Combes, Patricia;
Kwiatkowski, Fabrice;
Abrial, Catherine;
Bignon, Yves-Jean;
Vago, Philippe;
Penault-Llorca, Frédérique;
Tchirkov, Andreï

Publication type:

Article

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.

Published in:

2023

By:

Cavaillé, Mathias;
Crampon, Delphine;
Achim, Viorel;
Bubien, Virginie;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle-Chachuat, Flora;
Gay-Bellile, Mathilde;
Lepage, Mathis;
Ouedraogo, Zangbéwendé Guy;
Jones, Natalie;
Bidet, Yannick;
Sevenet, Nicolas;
Bignon, Yves-Jean

Publication type:

Case Study

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.

Published in:

Trials, 2016, v. 17, p. 1, doi. 10.1186/s13063-016-1642-4

By:

Kwiatkowski, Fabrice;
Dessenne, Pascal;
Laquet, Claire;
Daures, Jean-Pierre;
Gay-Bellile, Mathilde;
Bignon, Yves-Jean

Publication type:

Article

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 250, doi. 10.1002/ajmg.a.36840

By:

Goumy, Carole;
Laffargue, Fanny;
Eymard‐Pierre, Eléonore;
Kemeny, Stéphen;
Gay‐Bellile, Mathilde;
Gouas, Laetiti;
Gallot, Denis;
Francannet, Christine;
Tchirkov, Andrei;
Pebrel‐Richard, Céline;
Vago, Philippe

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2964, doi. 10.1002/ajmg.a.36715

By:

Pebrel‐Richard, Celine;
Rouzade, Charles;
Kemeny, Stephan;
Eymard‐Pierre, Eleonore;
Gay‐Bellile, Mathilde;
Gouas, Laetitia;
Tchirkov, Andreï;
Goumy, Carole;
Vago, Philippe

Publication type:

Article

Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.

Published in:

Genes, Chromosomes & Cancer, 2021, v. 60, n. 2, p. 73, doi. 10.1002/gcc.22911

By:

Cavaillé, Mathias;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Lepage, Mathis;
Molnar, Ioana;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean

Publication type:

Article

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

Published in:

Hereditary Cancer in Clinical Practice, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s13053-019-0107-7

By:

Kwiatkowski, Fabrice;
Gay-Bellile, Mathilde;
Dessenne, Pascal;
Laquet, Claire;
Boussion, Véronique;
Béguinot, Marie;
Petit, Marie-Françoise;
Grémeau, Anne-Sophie;
Verlet, Céline;
Chaptal, Charlotte;
Broult, Marilyn;
Jouvency, Sylvie;
Duclos, Martine;
Bignon, Yves-Jean

Publication type:

Article

Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer.

Published in:

Genes, 2023, v. 14, n. 11, p. 1991, doi. 10.3390/genes14111991

By:

Ouedraogo, Zangbéwendé Guy;
Ceruti, Florian;
Lepage, Mathis;
Gay-Bellile, Mathilde;
Uhrhammer, Nancy;
Ponelle-Chachuat, Flora;
Bidet, Yannick;
Privat, Maud;
Cavaillé, Mathias

Publication type:

Article

Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.

Published in:

Genes, 2023, v. 14, n. 9, p. 1677, doi. 10.3390/genes14091677

By:

Lepage, Mathis;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle-Chachuat, Flora;
Kossai, Myriam;
Scanzi, Julien;
Ouedraogo, Zangbéwendé Guy;
Gay-Bellile, Mathilde;
Bidet, Yannick;
Cavaillé, Mathias

Publication type:

Article

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/4830045

By:

Privat, Maud;
Ponelle-Chachuat, Flora;
Viala, Sandrine;
Uhrhammer, Nancy;
Lepage, Mathis;
Cayre, Anne;
Bidet, Yannick;
Bignon, Yves-Jean;
Gay-Bellile, Mathilde;
Cavaillé, Mathias

Publication type:

Article

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70086

By:

Lepage, Mathis;
Uhrhammer, Nancy;
Molnar, Ioana;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Bidet, Yannick;
Cavaillé, Mathias

Publication type:

Article

Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature.

Published in:

2023

By:

Garrigues, Guilhaume;
Batisse‐Lignier, Marie;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Kelly, Antony;
Gay‐Bellile, Mathilde;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean;
Cavaillé, Mathias

Publication type:

Case Study

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

Published in:

Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00353

By:

Cavaillé, Mathias;
Ponelle-Chachuat, Flora;
Uhrhammer, Nancy;
Viala, Sandrine;
Gay-Bellile, Mathilde;
Privat, Maud;
Bidet, Yannick;
Bignon, Yves-Jean

Publication type:

Article

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.

Published in:

2015

By:

Masliah-Planchon, Julien;
Dupont, Céline;
Vartzelis, George;
Trimouille, Aurélien;
Eymard-Pierre, Eléonore;
Gay-Bellile, Mathilde;
Renaldo, Florence;
Dorboz, Imen;
Pagan, Cécile;
Quentin, Samuel;
Elmaleh, Monique;
Kotsogianni, Christina;
Konstantelou, Elissavet;
Drunat, Séverine;
Tabet, Anne-Claude;
Boespflug-Tanguy, Odile

Publication type:

Case Study