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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
J Eur Acad Dermatol Venereol. 2023 May;37(5):e654-e657. doi: 10.1111/jdv.18869. Epub 2023 Jan 24.
J Eur Acad Dermatol Venereol. 2023.
PMID: 36645858
No abstract available.
Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.
Hamza L, Gaitch N, Sallem A, Boucekkine N, Girodon E, Oumeziane A, Attal N, Wolf JP, Bienvenu T.
Hamza L, et al. Among authors: gaitch n.
Andrologia. 2020 Dec;52(11):e13868. doi: 10.1111/and.13868. Epub 2020 Oct 28.
Andrologia. 2020.
PMID: 33118205
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Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis.
Bergougnoux A, Jouannic JM, Verneau F, Bienvenu T, Gaitch N, Raynal C, Girodon E.
Bergougnoux A, et al. Among authors: gaitch n.
Fetal Diagn Ther. 2019;45(5):312-316. doi: 10.1159/000489120. Epub 2018 Jun 19.
Fetal Diagn Ther. 2019.
PMID: 29920495
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DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Viel M, Hubert D, Burgel PR, Génin E, Honoré I, Martinez B, Gaitch N, Chapron J, Kanaan R, Dusser D, Girodon E, Bienvenu T.
Viel M, et al. Among authors: gaitch n.
Clin Respir J. 2016 Nov;10(6):777-783. doi: 10.1111/crj.12288. Epub 2015 Apr 15.
Clin Respir J. 2016.
PMID: 25763772
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CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
Gaitch N, Hubert D, Gameiro C, Burgel PR, Houriez F, Martinez B, Honoré I, Chapron J, Kanaan R, Dusser D, Girodon E, Bienvenu T.
Gaitch N, et al.
Pancreatology. 2016 Jul-Aug;16(4):515-22. doi: 10.1016/j.pan.2016.03.021. Epub 2016 Apr 5.
Pancreatology. 2016.
PMID: 27086061
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p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
Martinez B, Heller M, Gaitch N, Hubert D, Burgel PR, Levy P, Girodon E, Bienvenu T.
Martinez B, et al. Among authors: gaitch n.
J Hum Genet. 2014 Apr;59(4):206-10. doi: 10.1038/jhg.2014.2. Epub 2014 Jan 23.
J Hum Genet. 2014.
PMID: 24451227
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Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Touré A.
Dirami T, et al. Among authors: gaitch n.
Am J Hum Genet. 2013 May 2;92(5):760-6. doi: 10.1016/j.ajhg.2013.03.016. Epub 2013 Apr 11.
Am J Hum Genet. 2013.
PMID: 23582645
Free PMC article.
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Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease.
Fajac I, Viel M, Gaitch N, Hubert D, Bienvenu T.
Fajac I, et al. Among authors: gaitch n.
Eur Respir J. 2009 Sep;34(3):772-3. doi: 10.1183/09031936.00057309.
Eur Respir J. 2009.
PMID: 19720813
Free article.
No abstract available.
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