Oltra S - Search Results

1

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. Among authors: oltra s. J Med Genet. 2006 Nov;43(11):e55. doi: 10.1136/jmg.2006.041764. J Med Genet. 2006. PMID: 17085681 Free PMC article.

2

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. Among authors: oltra s. Clin Genet. 2004 Dec;66(6):525-9. doi: 10.1111/j.1399-0004.2004.00352.x. Clin Genet. 2004. PMID: 15521980

3

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

4

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A. Ejarque I, et al. Among authors: oltra s. Rev Neurol. 2015 May 1;60(9):408-12. Rev Neurol. 2015. PMID: 25912702 Review. Spanish.

5

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F. Preiksaitiene E, et al. Among authors: oltra s. Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900314

6

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Martínez F, Caro-Llopis A, Roselló M, Oltra S, Mayo S, Monfort S, Orellana C. Martínez F, et al. Among authors: oltra s. J Med Genet. 2017 Feb;54(2):87-92. doi: 10.1136/jmedgenet-2016-103964. Epub 2016 Sep 12. J Med Genet. 2017. PMID: 27620904

7

Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain.

Nagore E, Montoro A, Oltra S, Ledesma E, Botella-Estrada R, Millán JM, Oliver V, Fortea JM, Guillén C. Nagore E, et al. Among authors: oltra s. Melanoma Res. 2005 Dec;15(6):555-8. doi: 10.1097/00008390-200512000-00012. Melanoma Res. 2005. PMID: 16314743 No abstract available.

8

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.

Martínez F, Martínez-Garay I, Oltra S, Moltó MD, Orellana C, Monfort S, Prieto F, Tejada I. Martínez F, et al. Among authors: oltra s. Am J Med Genet A. 2004 Dec 1;131(2):174-8. doi: 10.1002/ajmg.a.30352. Am J Med Genet A. 2004. PMID: 15526294

9

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C. Martínez F, et al. Among authors: oltra s. Am J Med Genet A. 2014 Apr;164A(4):918-23. doi: 10.1002/ajmg.a.36371. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458433

10

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F. Martínez-Garay I, et al. Among authors: oltra s. Eur J Hum Genet. 2007 Jan;15(1):29-34. doi: 10.1038/sj.ejhg.5201717. Epub 2006 Oct 11. Eur J Hum Genet. 2007. PMID: 17033686

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

99 results

Search Page

Filters