Porchet N - Search Results

1

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

2

[Calcium sensing receptor: physiology and pathology].

Faivre-Defrance F, Marcelli-Tourvieille S, Odou MF, Porchet N, Wemeau JL, Vantyghem MC. Faivre-Defrance F, et al. Among authors: porchet n. Ann Endocrinol (Paris). 2006 Mar;67(1):45-53. doi: 10.1016/s0003-4266(06)72540-9. Ann Endocrinol (Paris). 2006. PMID: 16596058 Review. French.

3

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

4

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

5

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

6

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

7

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.

8

[Multiple endocrine neoplasias. Recent advances in clinical and genetic diagnosis].

Bauters C, Leclerc L, Wémeau JL, Proye C, Pigny P, Porchet N. Bauters C, et al. Among authors: porchet n. Rev Med Interne. 2003 Nov;24(11):721-9. doi: 10.1016/s0248-8663(03)00212-1. Rev Med Interne. 2003. PMID: 14604749 Review. French.

9

Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy.

Balduyck M, Odou MF, Zerimech F, Porchet N, Lafitte JJ, Maitre B. Balduyck M, et al. Among authors: porchet n. Rev Mal Respir. 2014 Oct;31(8):729-45. doi: 10.1016/j.rmr.2014.06.001. Epub 2014 Jul 3. Rev Mal Respir. 2014. PMID: 25391508 Review.

10

[MUC1 (EMA): A key molecule of carcinogenesis?].

Leroy X, Buisine MP, Leteurtre E, Aubert S, Buob D, Porchet N, Copin MC. Leroy X, et al. Among authors: porchet n. Ann Pathol. 2006 Sep;26(4):257-66. doi: 10.1016/s0242-6498(06)70718-0. Ann Pathol. 2006. PMID: 17128152 Review. French.

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