Porchet N - Search Results

1

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.

2

Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System.

Zerimech F, Hennache G, Bellon F, Barouh G, Jacques Lafitte J, Porchet N, Balduyck M. Zerimech F, et al. Among authors: porchet n. Clin Chem Lab Med. 2008;46(2):260-3. doi: 10.1515/CCLM.2008.036. Clin Chem Lab Med. 2008. PMID: 18076352

3

[Development of a laboratory test on dried blood spots for facilitating early diagnosis of alpha-1-antitrypsin deficiency].

Balduyck M, Chapuis Cellier C, Roche D, Odou MF, Joly P, Madelain V, Vergne A, Nouadje G, Lafitte JJ, Porchet N, Beaune P, Zerimech F. Balduyck M, et al. Among authors: porchet n. Ann Biol Clin (Paris). 2014 Nov-Dec;72(6):689-704. doi: 10.1684/abc.2014.1004. Ann Biol Clin (Paris). 2014. PMID: 25486665 Free article. French.

4

Description of 22 new alpha-1 antitrypsin genetic variants.

Renoux C, Odou MF, Tosato G, Teoli J, Abbou N, Lombard C, Zerimech F, Porchet N, Chapuis Cellier C, Balduyck M, Joly P. Renoux C, et al. Among authors: porchet n. Orphanet J Rare Dis. 2018 Sep 17;13(1):161. doi: 10.1186/s13023-018-0897-0. Orphanet J Rare Dis. 2018. PMID: 30223862 Free PMC article.

5

Heterozygous M3Mmalton alpha1-antitrypsin deficiency associated with end-stage liver disease: case report and review.

Canva V, Piotte S, Aubert JP, Porchet N, Lecomte-Houcke M, Huet G, Zenjari T, Roumilhac D, Pruvot FR, Degand P, Paris JC, Balduyck M. Canva V, et al. Among authors: porchet n. Clin Chem. 2001 Aug;47(8):1490-6. Clin Chem. 2001. PMID: 11468249

6

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.

Jouhadi Z, Odou MF, Zerimech F, Bousfiha AA, Mikou N, Porchet N, Crepin M, Najib J, Balduyck M. Jouhadi Z, et al. Among authors: porchet n. Respir Med Case Rep. 2018 Apr 10;24:58-62. doi: 10.1016/j.rmcr.2018.04.005. eCollection 2018. Respir Med Case Rep. 2018. PMID: 29977761 Free PMC article.

7

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

8

[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.

9

Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.

Pagin A, Zerimech F, Leclerc J, Wacrenier A, Lejeune S, Descarpentries C, Escande F, Porchet N, Buisine MP. Pagin A, et al. Among authors: porchet n. Br J Cancer. 2013 May 28;108(10):2079-87. doi: 10.1038/bjc.2013.213. Epub 2013 May 7. Br J Cancer. 2013. PMID: 23652311 Free PMC article.

10

Lynch syndrome in Tunisia: first description of clinical features and germline mutations.

Moussa SA, Moussa A, Kourda N, Mezlini A, Abdelli N, Zerimech F, Najjar T, Jilani SB, Porchet N, Ayed FB, Manai M, Buisine MP. Moussa SA, et al. Among authors: porchet n. Int J Colorectal Dis. 2011 Apr;26(4):455-67. doi: 10.1007/s00384-010-1129-9. Epub 2011 Feb 11. Int J Colorectal Dis. 2011. PMID: 21311894

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