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Year Number of Results
1985 1
1990 1
1992 2
1993 1
2000 1
2001 1
2006 2
2009 1
2010 10
2011 1
2012 1
2013 2
2014 1
2016 2
2017 1
2018 1
2019 2
2020 1
2022 1
2023 1
2024 0

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29 results

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Page 1
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Among authors: lalau g. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
[Examination procedures].
Vassault A, Arnaud J, Szymanovicz A; membres du sous-groupe 2 analytique. Vassault A, et al. Ann Biol Clin (Paris). 2010 Dec;68 Spec No 1:187-92. doi: 10.1684/abc.2011.0556. Ann Biol Clin (Paris). 2010. PMID: 21613016 French.
[Uncertainty of measurement].
Giroud C, Arnaud J, Vassault A; membres du sous-groupe 2 analytique. Giroud C, et al. Ann Biol Clin (Paris). 2010 Dec;68 Spec No 1:237-45. doi: 10.1684/abc.2011.0561. Ann Biol Clin (Paris). 2010. PMID: 21613020 French.
[Internal quality control].
Giroud C, Arnaud J, Adjidé V, Vassault A; membres du sous-groupe 2 analytique. Giroud C, et al. Ann Biol Clin (Paris). 2010 Dec;68 Spec No 1:203-21. doi: 10.1684/abc.2011.0558. Ann Biol Clin (Paris). 2010. PMID: 21613018 French.
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, Monteil L, Gaston V, Bujan L, Courtade-Saïdi M, Marcelli F, Lalau G, Rigot JM, Mieusset R, Bieth E. Patat O, et al. Among authors: lalau g. Am J Hum Genet. 2016 Aug 4;99(2):437-42. doi: 10.1016/j.ajhg.2016.06.012. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476656 Free PMC article.
[Verification/validation of the performances of analytical method].
Vassault A, Hulin A, Chapuzet E, Arnaud J, Giroud C; membres du sous-groupe 2 analytique de la SFBC. Vassault A, et al. Ann Biol Clin (Paris). 2010 Dec;68 Spec No 1:247-94. doi: 10.1684/abc.2011.0562. Ann Biol Clin (Paris). 2010. PMID: 21613021 French.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. Among authors: lalau g. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
[Traceability of the standards and calibrations].
Vassault A, Giroud C, Arnaud J; membres du sous-groupe 2 analytique. Vassault A, et al. Ann Biol Clin (Paris). 2010 Dec;68 Spec No 1:295-303. doi: 10.1684/abc.2011.0563. Ann Biol Clin (Paris). 2010. PMID: 21613022 French.
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: lalau g. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205
29 results