Coppin L - Search Results

1

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.

Chevalier B, Coppin L, Romanet P, Cuny T, Maïza JC, Abeillon J, Forestier J, Walter T, Gilly O, Le Bras M, Smati S, Nunes ML, Geslot A, Grunenwald S, Mouly C, Arnault G, Wagner K, Koumakis E, Cortet-Rudelli C, Merlen É, Jannin A, Espiard S, Morange I, Baudin É, Cavaille M, Tauveron I, Teissier MP, Borson-Chazot F, Mirebeau-Prunier D, Savagner F, Pasmant É, Giraud S, Vantyghem MC, Goudet P, Barlier A, Cardot-Bauters C, Odou MF. Chevalier B, et al. Among authors: coppin l. J Clin Endocrinol Metab. 2024 Jun 17;109(7):e1482-e1493. doi: 10.1210/clinem/dgae055. J Clin Endocrinol Metab. 2024. PMID: 38288531 Review.

2

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

Coppin L, Grutzmacher C, Crépin M, Destailleur E, Giraud S, Cardot-Bauters C, Porchet N, Pigny P. Coppin L, et al. Eur J Hum Genet. 2014 Sep;22(9):1149-52. doi: 10.1038/ejhg.2013.279. Epub 2013 Dec 4. Eur J Hum Genet. 2014. PMID: 24301059 Free PMC article.

3

[Genetic diagnosis of phaeochromocytomas and paragangliomas].

Cardot-Bauters C, Ainaouï M, Coppin L, Pigny P. Cardot-Bauters C, et al. Among authors: coppin l. Presse Med. 2014 Apr;43(4 Pt 1):460-7. doi: 10.1016/j.lpm.2013.07.032. Epub 2014 Mar 4. Presse Med. 2014. PMID: 24612707 Review. French.

4

Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls.

Kern B, Coppin L, Romanet P, Crépin M, Szuster I, Renaud F, Leteurtre E, Frénois F, Wemeau JL, Carnaille B, Cardot-Bauters C, Do Cao C, Pigny P. Kern B, et al. Among authors: coppin l. Eur J Med Genet. 2017 Mar;60(3):178-184. doi: 10.1016/j.ejmg.2017.01.001. Epub 2017 Jan 9. Eur J Med Genet. 2017. PMID: 28089742

5

Diseases associated with calcium-sensing receptor.

Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Among authors: coppin l. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.

6

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

Romanet P, Mohamed A, Giraud S, Odou MF, North MO, Pertuit M, Pasmant E, Coppin L, Guien C, Calender A, Borson-Chazot F, Béroud C, Goudet P, Barlier A. Romanet P, et al. Among authors: coppin l. J Clin Endocrinol Metab. 2019 Mar 1;104(3):753-764. doi: 10.1210/jc.2018-01170. J Clin Endocrinol Metab. 2019. PMID: 30339208

7

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

Coppin L, Plouvier P, Crépin M, Jourdain AS, Ait Yahya E, Richard S, Bressac-de Paillerets B, Cardot-Bauters C, Lejeune S, Leclerc J, Pigny P. Coppin L, et al. J Mol Diagn. 2019 May;21(3):462-470. doi: 10.1016/j.jmoldx.2019.01.005. Epub 2019 Feb 5. J Mol Diagn. 2019. PMID: 30731206 Free article.

8

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Romanet P, Odou MF, North MO, Saveanu A, Coppin L, Pasmant E, Mohamed A, Goudet P, Borson-Chazot F, Calender A, Béroud C, Lévy N, Giraud S, Barlier A. Romanet P, et al. Among authors: coppin l. Hum Mutat. 2019 Jun;40(6):661-674. doi: 10.1002/humu.23746. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30869828

9

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

Coppin L, Dufosse M, Romanet P, Giraud S, North MO, Cardot Bauters C, Borson-Chazot F, Duchesne L, Métallo M, Lovecchio T, Barlier A, Odou MF. Coppin L, et al. Eur J Endocrinol. 2020 Jan;182(1):57-65. doi: 10.1530/EJE-19-0641. Eur J Endocrinol. 2020. PMID: 31671402

10

A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.

Le Collen L, Barraud S, Braconnier A, Coppin L, Zachar D, Boulagnon C, Deguelte S, Souchon PF, Spodenkiewicz M, Poirsier C, Aubert S, Odou MF, Delemer B. Le Collen L, et al. Among authors: coppin l. Endocrine. 2021 Sep;73(3):693-701. doi: 10.1007/s12020-021-02756-4. Epub 2021 May 17. Endocrine. 2021. PMID: 33999366

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