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Items: 6

1.

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.

AlAnazi A, Epaud R, Heena H, de Becdelievre A, Miqdad AM, Fanen P.

Ann Thorac Med. 2017 Jul-Sep;12(3):213-215. doi: 10.4103/atm.ATM_386_16.

2.

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

Richard P, Trollet C, Stojkovic T, de Becdelievre A, Perie S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS.

Neurology. 2017 Jan 24;88(4):359-365. doi: 10.1212/WNL.0000000000003554. Epub 2016 Dec 23.

3.

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Hinzpeter A, de Becdelièvre A, Bieth E, Gameiro C, Brémont F, Martin N, Costes B, Costa C, Aissat A, Lorot A, Prulière-Escabasse V, Goossens M, Fanen P, Girodon E.

Hum Mutat. 2014 Jul;35(7):805-8. doi: 10.1002/humu.22548. Epub 2014 Apr 9.

4.

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

Hinzpeter A, Aissat A, de Becdelièvre A, Bieth E, Sondo E, Martin N, Costes B, Costa C, Goossens M, Galietta LJ, Girodon E, Fanen P.

Hum Mutat. 2013 Feb;34(2):287-91. doi: 10.1002/humu.22236. Epub 2012 Nov 8.

PMID:
23065710
5.

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E.

J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23.

6.

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

Oca F, Dreux S, Gérard B, Simon-Bouy B, de Becdelièvre A, Ferec C, Girodon E, Muller F.

Clin Chem. 2009 Dec;55(12):2214-7. doi: 10.1373/clinchem.2009.133298. Epub 2009 Oct 15.

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