Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

278 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mansour-Hendili L, et al. Among authors: loirat c. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
Observations of a large Dent disease cohort.
Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, Bérard E, Champion G, Cochat P, Dubourg J, de la Faille R, Devuyst O, Deschenes G, Fischbach M, Harambat J, Houillier P, Karras A, Knebelmann B, Lavocat MP, Loirat C, Merieau E, Niaudet P, Nobili F, Novo R, Salomon R, Ulinski T, Jeunemaître X, Vargas-Poussou R. Blanchard A, et al. Among authors: loirat c. Kidney Int. 2016 Aug;90(2):430-439. doi: 10.1016/j.kint.2016.04.022. Epub 2016 Jun 22. Kidney Int. 2016. PMID: 27342959 Free article.
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A. Vargas-Poussou R, et al. Among authors: loirat c. J Am Soc Nephrol. 2006 May;17(5):1437-43. doi: 10.1681/ASN.2005121305. Epub 2006 Apr 12. J Am Soc Nephrol. 2006. PMID: 16611712
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R. Brochard K, et al. Among authors: loirat c. Nephrol Dial Transplant. 2009 May;24(5):1455-64. doi: 10.1093/ndt/gfn689. Epub 2008 Dec 18. Nephrol Dial Transplant. 2009. PMID: 19096086
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C. Boyer O, et al. Among authors: loirat c. J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166. J Med Genet. 2010. PMID: 20591883 Free article.
Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.
Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C; French Society of Pediatric Nephrology. Sellier-Leclerc AL, et al. Among authors: loirat c. J Am Soc Nephrol. 2007 Aug;18(8):2392-400. doi: 10.1681/ASN.2006080811. Epub 2007 Jun 28. J Am Soc Nephrol. 2007. PMID: 17599974
Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study.
Frémeaux-Bacchi V, Sellier-Leclerc AL, Vieira-Martins P, Limou S, Kwon T, Lahoche A, Novo R, Llanas B, Nobili F, Roussey G, Cailliez M, Ulinski T, Deschênes G, Alberti C, Weill FX, Mariani P, Loirat C. Frémeaux-Bacchi V, et al. Among authors: loirat c. Clin J Am Soc Nephrol. 2019 Mar 7;14(3):364-377. doi: 10.2215/CJN.05830518. Epub 2019 Jan 23. Clin J Am Soc Nephrol. 2019. PMID: 30674459 Free PMC article.
278 results