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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 5
2004 9
2005 8
2006 4
2007 11
2008 7
2009 20
2010 13
2011 15
2012 8
2013 10
2014 10
2015 16
2016 12
2017 8
2018 8
2019 3
2020 7
2021 4
2022 1
2024 0

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155 results

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Page 1
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
Hatton A, Bergougnoux A, Zybert K, Chevalier B, Mesbahi M, Altéri JP, Walicka-Serzysko K, Postek M, Taulan-Cadars M, Edelman A, Hinzpeter A, Claustres M, Girodon E, Raynal C, Sermet-Gaudelus I, Sands D. Hatton A, et al. Among authors: claustres m. J Cyst Fibros. 2022 May;21(3):448-455. doi: 10.1016/j.jcf.2021.12.010. Epub 2021 Dec 21. J Cyst Fibros. 2022. PMID: 34949556 Free article.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Among authors: claustres m. Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294. Int J Mol Sci. 2021. PMID: 34948090 Free PMC article. Clinical Trial.
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D'Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, T'Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A. Passarelli C, et al. Among authors: claustres m. Front Genet. 2020 Jul 3;11:605. doi: 10.3389/fgene.2020.00605. eCollection 2020. Front Genet. 2020. PMID: 32719714 Free PMC article.
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Among authors: claustres m. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C, Harrison AN, Benkirane M, Oncel I, Arslan EA, Chassevent AK, Baraῆano K, Larrieu L, Iascone M, Tenconi R, Claustres M, Eroglu-Ertugrul N, Calvas P, Topaloglu H, Molday RS, Koenig M. Guissart C, et al. Among authors: claustres m. J Neurol. 2020 Jan;267(1):203-213. doi: 10.1007/s00415-019-09579-4. Epub 2019 Oct 14. J Neurol. 2020. PMID: 31612321 Free article.
155 results