N Porchet
Overview
Explore the profile of N Porchet including associated specialties, affiliations and a list of published articles.
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Articles
89
Citations
2167
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Recent Articles
1.
Balduyck M, Odou M, Zerimech F, Porchet N, Lafitte J, Maitre B
Rev Mal Respir
. 2014 Nov;
31(8):729-45.
PMID: 25391508
Alpha-1 antitrypsin (α1-AT) deficiency is an autosomal recessive genetic disorder, which predisposes affected patients to development of pulmonary emphysema or liver cirrhosis. Despite the guidelines from the American Thoracic Society...
2.
Petit F, Escande F, Jourdain A, Porchet N, Amiel J, Doray B, et al.
Clin Genet
. 2013 Sep;
86(3):246-51.
PMID: 24003905
Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the...
3.
Petit F, Jourdain A, Andrieux J, Baujat G, Baumann C, Beneteau C, et al.
Clin Genet
. 2013 Jun;
85(5):464-9.
PMID: 23790188
Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated...
4.
Pagin A, Zerimech F, Leclerc J, Wacrenier A, Lejeune S, Descarpentries C, et al.
Br J Cancer
. 2013 May;
108(10):2079-87.
PMID: 23652311
Background: Microsatellite instability (MSI) is a molecular phenotype due to defective DNA mismatch repair (MMR) system. It is used to predict outcome of colorectal tumours and to screen tumours for...
5.
Jonckheere N, Fauquette V, Stechly L, Saint-Laurent N, Aubert S, Susini C, et al.
Br J Cancer
. 2009 Aug;
101(4):637-44.
PMID: 19672266
Background: Activator protein-2alpha (AP-2alpha) is a transcription factor that belongs to the family of AP-2 proteins that have essential roles in tumorigenesis. Indeed, AP-2alpha is considered as a tumour-suppressor gene...
6.
Odou M, Cardot-Bauters C, Vantyghem M, Carnaille B, Leteurtre E, Pigny P, et al.
Ann Endocrinol (Paris)
. 2006 Dec;
67(6):581-7.
PMID: 17194968
Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant hereditary syndrome (OMIM 131100) due to MEN1 gene mutations, predisposing to the development of hyperplasic and tumoral lesions of neuroendocrine...
7.
Faivre-Defrance F, Marcelli-Tourvieille S, Odou M, Porchet N, Wemeau J, Vantyghem M
Ann Endocrinol (Paris)
. 2006 Apr;
67(1):45-53.
PMID: 16596058
Calcium is a major ion in human metabolism and its level is highly controlled. This regulation is performed via the Calcium Sensing Receptor, a discovery which ten years ago led...
8.
Leroy X, Aubert S, Ballereau C, Birembaut P, Porchet N, Gosselin B, et al.
Histopathology
. 2005 Sep;
47(4):435-6.
PMID: 16178902
No abstract available.
9.
Lamblin A, Pigny P, Tex G, Rouaix-Emery N, Porchet N, Leteurtre E, et al.
Ann Chir
. 2005 Mar;
130(3):157-61.
PMID: 15784218
This Retrospective Study Aims: To define a clinical and secretory profile of paragangliomas extra-adrenal chromaffin tumors. Methods: From 1971 throughout 2002, 39 paragangliomas have been observed in 38 patients (22...
10.
Proye C, Stalnikiewicz G, Wemeau J, Porchet N, DHerbomez M, Maunoury V, et al.
Ann Endocrinol (Paris)
. 2004 Jul;
65(2):149-61.
PMID: 15247875
Between 1971 and 2002, 80 patients underwent surgery for insulinoma at the Department of General and Endocrine Surgery of the Lille University Hospitals. The present report deals with 13 patients...