Millán JM - Search Results

1

Usher Syndrome: Genetics of a Human Ciliopathy.

Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Among authors: millan jm. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.

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: millan jm. Hum Mutat. 2002 Jul;20(1):76-7. doi: 10.1002/humu.9042. Hum Mutat. 2002. PMID: 12112664

3

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. Among authors: millan jm. Eur J Hum Genet. 2004 May;12(5):407-10. doi: 10.1038/sj.ejhg.5201138. Eur J Hum Genet. 2004. PMID: 14970843

4

[Usher syndrome: an example of genetic heterogeneity].

Nájera C, Beneyto M, Millán JM. Nájera C, et al. Among authors: millan jm. Med Clin (Barc). 2005 Oct 1;125(11):423-7. doi: 10.1157/13079387. Med Clin (Barc). 2005. PMID: 16216190 Review. Spanish.

5

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: millan jm. Hum Genet. 2007 Apr;121(2):203-11. doi: 10.1007/s00439-006-0304-0. Epub 2006 Dec 15. Hum Genet. 2007. PMID: 17171570

6

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

7

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM. Jaijo T, et al. Among authors: millan jm. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13. Invest Ophthalmol Vis Sci. 2010. PMID: 19683999

8

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM. Aller E, et al. Among authors: millan jm. Eur J Hum Genet. 2010 Jul;18(7):788-93. doi: 10.1038/ejhg.2010.14. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145675 Free PMC article.

9

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM. Aller E, et al. Among authors: millan jm. Mol Vis. 2010 Mar 23;16:495-500. Mol Vis. 2010. PMID: 20352026 Free PMC article.

10

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

Aller E, Jaijo T, García-García G, Aparisi MJ, Blesa D, Díaz-Llopis M, Ayuso C, Millán JM. Aller E, et al. Among authors: millan jm. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5480-5. doi: 10.1167/iovs.10-5359. Epub 2010 Jun 10. Invest Ophthalmol Vis Sci. 2010. PMID: 20538994

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