Gay-Bellile M - Search Results

1

Is BRCA2 involved in early onset colorectal cancer risk?

Gay-Bellile M, Privat M, Martins A, Caputo SM, Pebrel-Richard C, Cavaillé M, Viala S, Corsini C, Rodrigues M, Barnich N, Bidet Y, Uhrhammer N, Bignon YJ. Gay-Bellile M, et al. Clin Genet. 2020 Apr;97(4):668-669. doi: 10.1111/cge.13679. Epub 2019 Dec 26. Clin Genet. 2020. PMID: 31875949 Free PMC article.

2

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

Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C. Pebrel-Richard C, et al. Eur J Hum Genet. 2014 Mar;22(3):369-73. doi: 10.1038/ejhg.2013.141. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860047 Free PMC article.

3

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

Goumy C, Gay-Bellile M, Eymard-Pierre E, Kemeny S, Gouas L, Déchelotte P, Gallot D, Véronèse L, Tchirkov A, Pebrel-Richard C, Vago P. Goumy C, et al. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):507-11. doi: 10.1002/bdra.23246. Epub 2014 Apr 18. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24753315

4

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

Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P. Kemeny S, et al. Eur J Med Genet. 2014 Oct;57(10):552-7. doi: 10.1016/j.ejmg.2014.07.003. Epub 2014 Aug 6. Eur J Med Genet. 2014. PMID: 25106685

5

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

Pebrel-Richard C, Rouzade C, Kemeny S, Eymard-Pierre E, Gay-Bellile M, Gouas L, Tchirkov A, Goumy C, Vago P. Pebrel-Richard C, et al. Am J Med Genet A. 2014 Nov;164A(11):2964-7. doi: 10.1002/ajmg.a.36715. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25124455 No abstract available.

6

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

Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, Gallot D, Francannet C, Tchirkov A, Pebrel-Richard C, Vago P. Goumy C, et al. Am J Med Genet A. 2015 Jan;167A(1):250-3. doi: 10.1002/ajmg.a.36840. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425496

7

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

Goumy C, Gay-Bellile M, Salaun G, Kemeny S, Eymard-Pierre E, Biard M, Pebrel-Richard C, Vanlieferinghen P, Francannet C, Tchirkov A, Laurichesse H, Rouzade C, Gouas L, Vago P. Goumy C, et al. Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):793-7. doi: 10.1002/bdra.23535. Epub 2016 Jun 27. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27346851

8

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.

Kwiatkowski F, Dessenne P, Laquet C, Daures JP, Gay-Bellile M, Bignon YJ. Kwiatkowski F, et al. Trials. 2016 Oct 21;17(1):509. doi: 10.1186/s13063-016-1642-4. Trials. 2016. PMID: 27769293 Free PMC article. Clinical Trial.

9

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

Gay-Bellile M, Romero P, Cayre A, Véronèse L, Privat M, Singh S, Combes P, Kwiatkowski F, Abrial C, Bignon YJ, Vago P, Penault-Llorca F, Tchirkov A. Gay-Bellile M, et al. J Pathol Clin Res. 2016 Jul 13;2(4):234-246. doi: 10.1002/cjp2.52. eCollection 2016 Oct. J Pathol Clin Res. 2016. PMID: 27785368 Free PMC article.

10

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

Gay-Bellile M, Véronèse L, Combes P, Eymard-Pierre E, Kwiatkowski F, Dauplat MM, Cayre A, Privat M, Abrial C, Bignon YJ, Mouret-Reynier MA, Vago P, Penault-Llorca F, Tchirkov A. Gay-Bellile M, et al. Oncotarget. 2017 Aug 24;8(44):77540-77551. doi: 10.18632/oncotarget.20560. eCollection 2017 Sep 29. Oncotarget. 2017. PMID: 29100407 Free PMC article.

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