Michel-Calemard L - Search Results

1

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M. Krahn M, et al. Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552423 Free PMC article.

2

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Tuffery-Giraud S, et al. Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976. Hum Mutat. 2009. PMID: 19367636

3

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

Nguyen K, Putoux A, Busa T, Cordier MP, Sigaudy S, Till M, Chabrol B, Michel-Calemard L, Bernard R, Julia S, Malzac P, Labalme A, Missirian C, Edery P, Popovici C, Philip N, Sanlaville D. Nguyen K, et al. Clin Genet. 2015 May;87(5):488-91. doi: 10.1111/cge.12421. Epub 2014 Jul 21. Clin Genet. 2015. PMID: 24835530

4

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T. Svahn J, et al. Neuromuscul Disord. 2019 Jul;29(7):497-502. doi: 10.1016/j.nmd.2019.05.004. Epub 2019 May 9. Neuromuscul Disord. 2019. PMID: 31266720

5

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

Pegat A, Streichenberger N, Lacoste N, Hermier M, Menassa R, Coudert L, Theuriet J, Froissart R, Terrone S, Bouhour F, Michel-Calemard L, Schaeffer L, Jacquier A. Pegat A, et al. Among authors: michel calemard l. Genes (Basel). 2022 Nov 29;13(12):2245. doi: 10.3390/genes13122245. Genes (Basel). 2022. PMID: 36553512 Free PMC article.

6

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.

Michel-Calemard L, Dijoud F, Till M, Lambert JC, Vercherat M, Tardy V, Coubes C, Morel Y. Michel-Calemard L, et al. Clin Genet. 2009 Feb;75(2):203-6. doi: 10.1111/j.1399-0004.2008.01106.x. Epub 2008 Nov 17. Clin Genet. 2009. PMID: 19021639 No abstract available.

7

A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis.

Roucher Boulez F, Menassa R, Streichenberger N, Manel V, Mallet-Motak D, Morel Y, Michel-Calemard L. Roucher Boulez F, et al. Clin Chim Acta. 2015 Aug 25;448:146-9. doi: 10.1016/j.cca.2015.07.002. Epub 2015 Jul 3. Clin Chim Acta. 2015. PMID: 26148721

8

School level of children carrying a HNF1B variant or a deletion.

Laliève F, Decramer S, Heidet L, Baudouin V, Lahoche A, Llanas B, Cochat P, Tenenbaum J, Lavocat MP, Eckart P, Broux F, Roussey G, Cloarec S, Vrillon I, Dunand O, Bessenay L, Tsimaratos M, Nobili F, Pietrement C, De Parscau L, Bonneville V, Rodier N, Saint-Martin C, Chassaing N, Michel-Calemard L, Moriniere V, Bellanné-Chantelot C, Bahans C, Guigonis V. Laliève F, et al. Among authors: michel calemard l. Eur J Hum Genet. 2020 Jan;28(1):56-63. doi: 10.1038/s41431-019-0490-6. Epub 2019 Sep 3. Eur J Hum Genet. 2020. PMID: 31481685 Free PMC article.

9

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, Guimiot F, Fontanarosa N, Nizon M, Lefebvre M, Jeanpierre C, Saunier S, Heidet L. Jordan P, et al. Among authors: michel calemard l. Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10. Hum Mutat. 2022. PMID: 35005812

10

[PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].

Hamo S, Bacchetta J, Bertholet-Thomas A, Ranchin B, Cochat P, Michel-Calemard L. Hamo S, et al. Nephrol Ther. 2018 Nov;14(6):474-477. doi: 10.1016/j.nephro.2018.03.002. Epub 2018 Apr 25. Nephrol Ther. 2018. PMID: 29703621 French.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

36 results

Search Page

Filters