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Page 1
Nasal polyposis and cystic fibrosis(CF): review of the literature.
Feuillet-Fieux MN, Lenoir G, Sermet I, Elie C, Djadi-Prat J, Ferrec M, Magen M, Couloigner V, Manach Y, Lacour B, Bonnefont JP. Feuillet-Fieux MN, et al. Among authors: magen m. Rhinology. 2011 Aug;49(3):347-55. doi: 10.4193/Rhino10.225. Rhinology. 2011. PMID: 21858268 Review.
Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.
Sifi Y, Sifi K, Boulefkhad A, Abadi N, Bouderda Z, Cheriet R, Magen M, Bonnefont JP, Munnich A, Benlatreche C, Hamri A. Sifi Y, et al. Among authors: magen m. J Neurodegener Dis. 2013;2013:903875. doi: 10.1155/2013/903875. Epub 2013 Mar 24. J Neurodegener Dis. 2013. PMID: 26317002 Free PMC article.
Pitfalls in molecular diagnosis of Friedreich ataxia.
Barcia G, Rachid M, Magen M, Assouline Z, Koenig M, Funalot B, Barnerias C, Rötig A, Munnich A, Bonnefont JP, Steffann J. Barcia G, et al. Among authors: magen m. Eur J Med Genet. 2018 Aug;61(8):455-458. doi: 10.1016/j.ejmg.2018.03.004. Epub 2018 Mar 9. Eur J Med Genet. 2018. PMID: 29530802
Improving post-natal detection of mitochondrial DNA mutations.
Barcia G, Assouline Z, Magen M, Pennisi A, Rötig A, Munnich A, Bonnefont JP, Steffann J. Barcia G, et al. Among authors: magen m. Expert Rev Mol Diagn. 2020 Oct;20(10):1003-1008. doi: 10.1080/14737159.2020.1820326. Epub 2020 Sep 20. Expert Rev Mol Diagn. 2020. PMID: 32902337
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Steffann J, Monnot S, Magen M, Assouline Z, Gigarel N, Ville Y, Salomon L, Bessiere B, Martinovic J, Rötig A, Bengoa J, Borghèse R, Munnich A, Barcia G, Bonnefont JP. Steffann J, et al. Among authors: magen m. Genet Med. 2021 Apr;23(4):720-731. doi: 10.1038/s41436-020-01043-3. Epub 2020 Dec 11. Genet Med. 2021. PMID: 33303968 Free article.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP. Gobin-Limballe S, et al. Among authors: magen m. J Inherit Metab Dis. 2021 Sep;44(5):1235-1247. doi: 10.1002/jimd.12404. Epub 2021 Jun 10. J Inherit Metab Dis. 2021. PMID: 34014569
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G. Sperelakis-Beedham B, et al. Among authors: magen m. Eur J Hum Genet. 2024 Nov 4. doi: 10.1038/s41431-024-01728-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39496895
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C. Viguier A, et al. Among authors: magen m. Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31. Neuromuscul Disord. 2019. PMID: 30598237
24 results