Millan JM - Search Results

1

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.

Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: millan jm. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.

2

Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.

Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M. Gamundi MJ, et al. Among authors: millan jm. Mol Vis. 2005 Nov 2;11:922-8. Mol Vis. 2005. PMID: 16280978 Free article.

3

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C. García-Hoyos M, et al. Among authors: millan jm. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82. doi: 10.1167/iovs.06-0323. Invest Ophthalmol Vis Sci. 2006. PMID: 16936086

4

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

5

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

6

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

7

Retinitis pigmentosa and allied conditions today: a paradigm of translational research.

Ayuso C, Millan JM. Ayuso C, et al. Among authors: millan jm. Genome Med. 2010 May 27;2(5):34. doi: 10.1186/gm155. Genome Med. 2010. PMID: 20519033 Free PMC article.

8

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

9

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Ávila-Fernández A, Cantalapiedra D, Aller E, Vallespín E, Aguirre-Lambán J, Blanco-Kelly F, Corton M, Riveiro-Álvarez R, Allikmets R, Trujillo-Tiebas MJ, Millán JM, Cremers FP, Ayuso C. Ávila-Fernández A, et al. Among authors: millan jm. Mol Vis. 2010 Dec 3;16:2550-8. Mol Vis. 2010. PMID: 21151602 Free PMC article.

10

An update on the genetics of usher syndrome.

Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C. Millán JM, et al. J Ophthalmol. 2011;2011:417217. doi: 10.1155/2011/417217. Epub 2010 Dec 23. J Ophthalmol. 2011. PMID: 21234346 Free PMC article.

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