Pérez-Garrigues H - Search Results

1

Linkage analysis in Usher syndrome type I (USH1) families from Spain.

Espinós C, Nájera C, Millán JM, Ayuso C, Baiget M, Pérez-Garrigues H, Rodrigo O, Vilela C, Beneyto M. Espinós C, et al. J Med Genet. 1998 May;35(5):391-8. doi: 10.1136/jmg.35.5.391. J Med Genet. 1998. PMID: 9610802 Free PMC article.

2

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

3

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

4

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. 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.

5

[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

Espinós C, Pérez-Garrigues H, Beneyto M, Vilela C, Rodrigo O, Nájera C. Espinós C, et al. An Otorrinolaringol Ibero Am. 1999;26(1):83-95. An Otorrinolaringol Ibero Am. 1999. PMID: 10091368 Review. Spanish.

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

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. Hum Mutat. 2006 Mar;27(3):290-1. doi: 10.1002/humu.9404. Hum Mutat. 2006. PMID: 16470552

8

Novel mutations in the USH1C gene in Usher syndrome patients.

Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM. Aparisi MJ, et al. Mol Vis. 2010 Dec 31;16:2948-54. Mol Vis. 2010. PMID: 21203349 Free PMC article.

9

Vestibular impairment in Charcot-Marie-Tooth disease type 4C.

Pérez-Garrigues H, Sivera R, Vílchez JJ, Espinós C, Palau F, Sevilla T. Pérez-Garrigues H, et al. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):824-7. doi: 10.1136/jnnp-2013-307421. Epub 2014 Mar 10. J Neurol Neurosurg Psychiatry. 2014. PMID: 24614092

10

Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

Sivera R, Cavalle L, Vílchez JJ, Espinós C, Pérez Garrigues H, Sevilla T. Sivera R, et al. Among authors: perez garrigues h. J Int Adv Otol. 2017 Apr;13(1):93-99. doi: 10.5152/iao.2017.3379. J Int Adv Otol. 2017. PMID: 28555600 Free article.

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