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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: marcaillou c. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Massively parallel DNA sequencing from routinely processed cytological smears.
Piqueret-Stephan L, Marcaillou C, Reyes C, Honoré A, Letexier M, Gentien D, Droin N, Lacroix L, Scoazec JY, Vielh P. Piqueret-Stephan L, et al. Among authors: marcaillou c. Cancer Cytopathol. 2016 Apr;124(4):241-53. doi: 10.1002/cncy.21639. Epub 2015 Oct 27. Cancer Cytopathol. 2016. PMID: 26505273 Free article.
An Accessible and Unique Insight into Metastasis Mutational Content Through Whole-exome Sequencing of Circulating Tumor Cells in Metastatic Prostate Cancer.
Faugeroux V, Lefebvre C, Pailler E, Pierron V, Marcaillou C, Tourlet S, Billiot F, Dogan S, Oulhen M, Vielh P, Rameau P, NgoCamus M, Massard C, Laplace-Builhé C, Tibbe A, Taylor M, Soria JC, Fizazi K, Loriot Y, Julien S, Farace F. Faugeroux V, et al. Among authors: marcaillou c. Eur Urol Oncol. 2020 Aug;3(4):498-508. doi: 10.1016/j.euo.2018.12.005. Epub 2019 Jan 4. Eur Urol Oncol. 2020. PMID: 31412010 Free article.
Functional variants of POC5 identified in patients with idiopathic scoliosis.
Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P. Patten SA, et al. Among authors: marcaillou c. J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172/JCI77262. Epub 2015 Feb 2. J Clin Invest. 2015. PMID: 25642776 Free PMC article.
Technical Validation of a Reverse-Transcription Quantitative Polymerase Chain Reaction In Vitro Diagnostic Test for the Determination of MiR-31-3p Expression Levels in Formalin-Fixed Paraffin-Embedded Metastatic Colorectal Cancer Tumor Specimens.
Ramon L, David C, Fontaine K, Lallet E, Marcaillou C, Martin-Lannerée S, Decaulne V, Vazart C, Gélibert AH, Abdelali RB, Costa JM, Rousseau F, Thiébaut R, Yost L, Gaston-Mathé Y. Ramon L, et al. Among authors: marcaillou c. Biomark Insights. 2018 Mar 16;13:1177271918763357. doi: 10.1177/1177271918763357. eCollection 2018. Biomark Insights. 2018. PMID: 29568219 Free PMC article.
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. Edery P, et al. Among authors: marcaillou c. Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205. Science. 2011. PMID: 21474761
28 results