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Page 1
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
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 Dec;24(12):e1-e14. doi: 10.1016/j.arcped.2017.07.015. Epub 2017 Nov 22. Arch Pediatr. 2017. PMID: 29174009
[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
3,043 results