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

Year Number of Results
1982 1
1984 1
1985 4
1986 4
1987 2
1988 1
1989 3
1990 3
1991 1
1992 5
1993 7
1994 13
1995 6
1996 6
1997 12
1998 14
1999 10
2000 10
2001 10
2002 4
2003 8
2004 9
2005 10
2006 6
2007 15
2008 12
2009 25
2010 15
2011 17
2012 9
2013 11
2014 11
2015 17
2016 13
2017 10
2018 9
2019 4
2020 7
2021 4
2022 2
2023 1
2024 0

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298 results

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Page 1
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
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS. Castellani C, et al. Among authors: claustres m. J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. J Cyst Fibros. 2008. PMID: 18456578 Free PMC article. Review.
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
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.
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.
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.
[Retinoblastoma: importance of genetic counseling].
Girardet A, Beaufrere L, Tuffery S, Claustres M, Pellestor F. Girardet A, et al. Among authors: claustres m. J Fr Ophtalmol. 1998 Apr;21(4):295-301. J Fr Ophtalmol. 1998. PMID: 9759420 Review. French. No abstract available.
[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Blanchard A, Roubertie A, Frédéric MY, Claustres M, Collod-Béroud G. Blanchard A, et al. Among authors: claustres m. Rev Neurol (Paris). 2010 Apr;166(4):389-99. doi: 10.1016/j.neurol.2009.09.007. Rev Neurol (Paris). 2010. PMID: 19836812 Free article. Review. French.
298 results