Aller E - Search Results

1

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

Aller E, Nájera C, Millán JM, Oltra JS, Pérez-Garrigues H, Vilela C, Navea A, Beneyto M. Aller E, et al. Eur J Hum Genet. 2004 May;12(5):407-10. doi: 10.1038/sj.ejhg.5201138. Eur J Hum Genet. 2004. PMID: 14970843

2

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

Nájera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millán JM, Ayuso C. Nájera C, et al. Among authors: aller e. Hum Mutat. 2002 Jul;20(1):76-7. doi: 10.1002/humu.9042. Hum Mutat. 2002. PMID: 12112664

3

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

Aller E, Jaijo T, Oltra S, Alió J, Galán F, Nájera C, Beneyto M, Millán JM. Aller E, et al. Clin Genet. 2004 Dec;66(6):525-9. doi: 10.1111/j.1399-0004.2004.00352.x. Clin Genet. 2004. PMID: 15521980

4

[Molecular genetic study of Usher syndrome in Spain].

Jaijo T, Aller E, Beneyto M, Nájera C, Millán JM. Jaijo T, et al. Among authors: aller e. Acta Otorrinolaringol Esp. 2005 Aug-Sep;56(7):285-9. doi: 10.1016/s0001-6519(05)78616-7. Acta Otorrinolaringol Esp. 2005. PMID: 16240916 Free article. Spanish.

5

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM. Jaijo T, et al. Among authors: aller e. Hum Mutat. 2006 Mar;27(3):290-1. doi: 10.1002/humu.9404. Hum Mutat. 2006. PMID: 16470552

6

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM. Aller E, et al. J Med Genet. 2006 Nov;43(11):e55. doi: 10.1136/jmg.2006.041764. J Med Genet. 2006. PMID: 17085681 Free PMC article.

7

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H. Ebermann I, et al. Among authors: aller e. Hum Genet. 2007 Apr;121(2):203-11. doi: 10.1007/s00439-006-0304-0. Epub 2006 Dec 15. Hum Genet. 2007. PMID: 17171570

8

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

Jaijo T, Aller E, Beneyto M, Najera C, Graziano C, Turchetti D, Seri M, Ayuso C, Baiget M, Moreno F, Morera C, Perez-Garrigues H, Millan JM. Jaijo T, et al. Among authors: aller e. J Med Genet. 2007 Mar;44(3):e71. doi: 10.1136/jmg.2006.045377. J Med Genet. 2007. PMID: 17361009 Free PMC article. No abstract available.

9

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.

Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J. Aller E, et al. Ophthalmic Genet. 2007 Sep;28(3):151-5. doi: 10.1080/13816810701537374. Ophthalmic Genet. 2007. PMID: 17896313

10

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ. Oshima A, et al. Among authors: aller e. Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761. Hum Mutat. 2008. PMID: 18429043 Free PMC article.

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