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2,972 results

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Page 1
[Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E. Sermet-Gaudelus I, et al. Among authors: weiss l. Arch Pediatr. 2017 Apr;24(4):401-414. doi: 10.1016/j.arcped.2017.01.019. Epub 2017 Mar 1. Arch Pediatr. 2017. PMID: 28258861 French.
[Cystic fibrosis, observation and therapeutics].
Weiss L. Weiss L. Arch Pediatr. 2003 Aug;10 Suppl 3:406s-412s. doi: 10.1016/s0929-693x(03)90003-0. Arch Pediatr. 2003. PMID: 14671952 Review. French. No abstract available.
[French guidelines for sweat test practice and interpretation for cystic fibrosis neonatal screening].
Sermet-Gaudelus I, Munck A, Rota M, Roussey M, Feldmann D, Nguyen-Khoa T; Groupe de travail "Dépistage néonatal" de la Fédération des centres de ressources et de compétences de la mucoviscidose. Sermet-Gaudelus I, et al. Arch Pediatr. 2010 Sep;17(9):1349-58. doi: 10.1016/j.arcped.2010.06.021. Epub 2010 Aug 16. Arch Pediatr. 2010. PMID: 20719482 French.
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelièvre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P. Hinzpeter A, et al. Among authors: weiss l. PLoS Genet. 2010 Oct 7;6(10):e1001153. doi: 10.1371/journal.pgen.1001153. PLoS Genet. 2010. PMID: 20949073 Free PMC article.
Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosis.
Boëlle PY, Viviani L, Busson PF, Olesen HV, Ravilly S, Stern M, Assael BM, Barreto C, Drevinek P, Thomas M, Krivec U, Mei-Zahav M, Vibert JF, Clement A, Mehta A, Corvol H; French CF Modifier Gene Study Investigators; European CF Registry Working Group. Boëlle PY, et al. Orphanet J Rare Dis. 2012 Sep 7;7:64. doi: 10.1186/1750-1172-7-64. Orphanet J Rare Dis. 2012. PMID: 22958330 Free PMC article.
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. 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
[National French guidelines for management of infants with cystic fibrosis].
Sermet-Gaudelus I, Couderc L, Vrielynck S, Brouard J, Weiss L, Wizla N, Llerena C, Lebourgeois M, Bailly C, Dirou A, Renouil M, Dalphin ML, Rault G, Munck A, Roussey M; Groupe de travail dépistage de la Fédération des centres de ressources et de compétences de la mucoviscidose; Groupe de travail dépistage de la Fédération des centres de ressources et de compétences de la mucoviscidose. Sermet-Gaudelus I, et al. Among authors: weiss l. Arch Pediatr. 2014 Jun;21(6):654-62. doi: 10.1016/j.arcped.2014.03.014. Epub 2014 May 10. Arch Pediatr. 2014. PMID: 24815598 French.
Central venous thrombosis and thrombophilia in cystic fibrosis: A prospective study.
Munck A, Kheniche A, Alberti C, Hubert D, Martine RG, Nove-Josserand R, Pin I, Bremont F, Chiron R, Couderc L, Dalphin ML, Darviot E, Delaisi B, Dominique S, Durieu I, Fanton A, Fayon M, Gérardin M, Giniès JL, Giraut C, Grenet D, Guillot M, Huet F, Le Bourgeois M, Murris-Epin M, Ramel S, Sardet A, Sermet-Gaudelus I, Varaigne F, Wanin S, Weiss L, Hurtaud MF. Munck A, et al. Among authors: weiss l. J Cyst Fibros. 2015 Jan;14(1):97-103. doi: 10.1016/j.jcf.2014.05.015. Epub 2014 Aug 5. J Cyst Fibros. 2015. PMID: 25107684 Free article.
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
Wainwright CE, Elborn JS, Ramsey BW, Marigowda G, Huang X, Cipolli M, Colombo C, Davies JC, De Boeck K, Flume PA, Konstan MW, McColley SA, McCoy K, McKone EF, Munck A, Ratjen F, Rowe SM, Waltz D, Boyle MP; TRAFFIC Study Group; TRANSPORT Study Group. Wainwright CE, et al. N Engl J Med. 2015 Jul 16;373(3):220-31. doi: 10.1056/NEJMoa1409547. Epub 2015 May 17. N Engl J Med. 2015. PMID: 25981758 Free PMC article. Clinical Trial.
2,972 results