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Page 1
[Newborn screening for cystic fibrosis in France].
Munck A, Cheillan D, Audrezet MP, Guenet D, Huet F. Munck A, et al. Among authors: cheillan d. Med Sci (Paris). 2021 May;37(5):491-499. doi: 10.1051/medsci/2021051. Epub 2021 May 18. Med Sci (Paris). 2021. PMID: 34003095 Free article. 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: cheillan d. 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
[Newborn screening in France: where are we going?].
Sarles J, Huet F, Cheillan D, Roussey M. Sarles J, et al. Among authors: cheillan d. Arch Pediatr. 2014 Aug;21(8):813-5. doi: 10.1016/j.arcped.2014.05.004. Epub 2014 Jun 27. Arch Pediatr. 2014. PMID: 24986067 French. No abstract available.
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).
Audrain MAP, Léger AJC, Hémont CAF, Mirallié SM, Cheillan D, Rimbert MGM, Le Thuaut AM, Sébille-Rivain VA, Prat A, Pinel EMQ, Divry E, Dert CGL, Fournier MAG, Thomas CJC. Audrain MAP, et al. Among authors: cheillan d. J Clin Immunol. 2018 Oct;38(7):778-786. doi: 10.1007/s10875-018-0550-7. Epub 2018 Sep 24. J Clin Immunol. 2018. PMID: 30251145
Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France.
Levaillant L, Huet F, Bretones P, Corne C, Dupuis C, Reynaud R, Somma C, Barat P, Corcuff JB, Bouhours-Nouet N, Gauthereau V, Polak M, Leger J, Cheillan D, Coutant R. Levaillant L, et al. Among authors: cheillan d. Arch Pediatr. 2022 May;29(4):253-257. doi: 10.1016/j.arcped.2022.02.001. Epub 2022 Mar 26. Arch Pediatr. 2022. PMID: 35351343 Review.
95 results