Porchet N - Search Results

1

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. Among authors: porchet n. 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.

2

Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?

Pigny P, Cardot-Bauters C, Do Cao C, Vantyghem MC, Carnaille B, Pattou F, Caron P, Wemeau JL, Porchet N. Pigny P, et al. Among authors: porchet n. Eur J Endocrinol. 2009 Feb;160(2):227-31. doi: 10.1530/EJE-08-0574. Epub 2008 Nov 24. Eur J Endocrinol. 2009. PMID: 19029228

3

Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.

Crépin M, Pigny P, Escande F, Bauters CC, Calender A, Lefevre S, Buisine MP, Porchet N, Odou MF. Crépin M, et al. Among authors: porchet n. J Mol Endocrinol. 2006 Apr;36(2):369-76. doi: 10.1677/jme.1.01903. J Mol Endocrinol. 2006. PMID: 16595707

4

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

Pigny P, Vincent A, Cardot Bauters C, Bertrand M, de Montpreville VT, Crepin M, Porchet N, Caron P. Pigny P, et al. Among authors: porchet n. J Clin Endocrinol Metab. 2008 May;93(5):1609-15. doi: 10.1210/jc.2007-1989. Epub 2008 Jan 22. J Clin Endocrinol Metab. 2008. PMID: 18211978

5

Contribution of genetic analysis in screening for MEN1 among patients with sporadic disease and one or more typical manifestation.

Odou MF, Cardot-Bauters C, Vantyghem MC, Carnaille B, Leteurtre E, Pigny P, Verier-Mine O, Desailloud R, Porchet N. Odou MF, et al. Among authors: porchet n. Ann Endocrinol (Paris). 2006 Dec;67(6):581-7. doi: 10.1016/s0003-4266(06)73010-4. Ann Endocrinol (Paris). 2006. PMID: 17194968

6

Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

Crépin M, Escande F, Pigny P, Buisine MP, Calender A, Porchet N, Odou MF; Groupe d'Etude des Neoplasies Endocriniennes Multiples, Lyon. Crépin M, et al. Among authors: porchet n. Electrophoresis. 2003 Jan;24(1-2):26-33. doi: 10.1002/elps.200390023. Electrophoresis. 2003. PMID: 12652570

7

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Crépin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP. Crépin M, et al. Among authors: porchet n. Hum Mutat. 2012 Jan;33(1):180-8. doi: 10.1002/humu.21617. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21953887

8

Messenger RNA Life-Cycle in Cancer Cells: Emerging Role of Conventional and Non-Conventional RNA-Binding Proteins?

Coppin L, Leclerc J, Vincent A, Porchet N, Pigny P. Coppin L, et al. Among authors: porchet n. Int J Mol Sci. 2018 Feb 25;19(3):650. doi: 10.3390/ijms19030650. Int J Mol Sci. 2018. PMID: 29495341 Free PMC article. Review.

9

The MUC5AC gene: RFLP analysis with the Jer58 probe.

Pigny P, Pratt WS, Laine A, Leclercq A, Swallow DM, Nguyen VC, Aubert JP, Porchet N. Pigny P, et al. Among authors: porchet n. Hum Genet. 1995 Sep;96(3):367-8. doi: 10.1007/BF00210427. Hum Genet. 1995. PMID: 7649560

10

A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.

Pigny P, Bauters C, Wemeau JL, Houcke ML, Crepin M, Caron P, Giraud S, Calender A, Buisine MP, Kerckaert JP, Porchet N. Pigny P, et al. Among authors: porchet n. J Clin Endocrinol Metab. 1999 May;84(5):1700-4. doi: 10.1210/jcem.84.5.5665. J Clin Endocrinol Metab. 1999. PMID: 10323403

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