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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. 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.
Expression of myosin VIIA during mouse embryogenesis.
Sahly I, El-Amraoui A, Abitbol M, Petit C, Dufier JL. Sahly I, et al. Anat Embryol (Berl). 1997 Aug;196(2):159-70. doi: 10.1007/s004290050088. Anat Embryol (Berl). 1997. PMID: 9278160
Unconventional myosin VIIA is a novel A-kinase-anchoring protein.
Küssel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, Petit C. Küssel-Andermann P, et al. J Biol Chem. 2000 Sep 22;275(38):29654-9. doi: 10.1074/jbc.M004393200. J Biol Chem. 2000. PMID: 10889203 Free article.
Interactions in the network of Usher syndrome type 1 proteins.
Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C. Adato A, et al. Hum Mol Genet. 2005 Feb 1;14(3):347-56. doi: 10.1093/hmg/ddi031. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590703
78 results