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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
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2022 1
2024 0

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155 results

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Page 1
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Dequeker E, et al. Among authors: claustres m. Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685558 Free PMC article.
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K. Steiner B, et al. Among authors: claustres m. Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520337
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: claustres m. Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293843 Free PMC article.
Normal and altered pre-mRNA processing in the DMD gene.
Tuffery-Giraud S, Miro J, Koenig M, Claustres M. Tuffery-Giraud S, et al. Among authors: claustres m. Hum Genet. 2017 Sep;136(9):1155-1172. doi: 10.1007/s00439-017-1820-9. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28597072 Review.
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.
Reply to Sajantila and Budowle.
Barton DE, Claustres M, Kozich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ. Barton DE, et al. Among authors: claustres m. Eur J Hum Genet. 2016 Mar;24(3):330. doi: 10.1038/ejhg.2014.290. Epub 2015 Jan 14. Eur J Hum Genet. 2016. PMID: 25585701 Free PMC article. No abstract available.
155 results