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2002 2
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Page 1
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: el amraoui a. 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.
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Nisenbaum E, et al. Among authors: el amraoui a. Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. Ear Hear. 2022. PMID: 34039936 Free PMC article. Review.
Disease mechanisms and gene therapy for Usher syndrome.
Géléoc GGS, El-Amraoui A. Géléoc GGS, et al. Among authors: el amraoui a. Hear Res. 2020 Sep 1;394:107932. doi: 10.1016/j.heares.2020.107932. Epub 2020 Mar 4. Hear Res. 2020. PMID: 32199721 Review.
Cadherin defects in inherited human diseases.
El-Amraoui A, Petit C. El-Amraoui A, et al. Prog Mol Biol Transl Sci. 2013;116:361-84. doi: 10.1016/B978-0-12-394311-8.00016-9. Prog Mol Biol Transl Sci. 2013. PMID: 23481203 Review.
Cadherins as targets for genetic diseases.
El-Amraoui A, Petit C. El-Amraoui A, et al. Cold Spring Harb Perspect Biol. 2010 Jan;2(1):a003095. doi: 10.1101/cshperspect.a003095. Cold Spring Harb Perspect Biol. 2010. PMID: 20182609 Free PMC article. Review.
Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art.
Nourbakhsh A, Colbert BM, Nisenbaum E, El-Amraoui A, Dykxhoorn DM, Koehler KR, Chen ZY, Liu XZ. Nourbakhsh A, et al. Among authors: el amraoui a. J Assoc Res Otolaryngol. 2021 Apr;22(2):95-105. doi: 10.1007/s10162-020-00781-0. Epub 2021 Jan 28. J Assoc Res Otolaryngol. 2021. PMID: 33507440 Free PMC article. Review.
49 results