Prieto F - Search Results

1

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Rodríguez-Ballesteros M, del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Terán J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: prieto f. Hum Mutat. 2003 Dec;22(6):451-6. doi: 10.1002/humu.10274. Hum Mutat. 2003. PMID: 14635104

2

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Sánchez-Sánchez F, Ramírez-Castillejo C, Weekes DB, Beneyto M, Prieto F, Nájera C, Mittnacht S. Sánchez-Sánchez F, et al. Among authors: prieto f. Hum Mutat. 2007 Feb;28(2):159-67. doi: 10.1002/humu.20394. Hum Mutat. 2007. PMID: 16988938

3

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

Monrós E, Moltó MD, Martínez F, Cañizares J, Blanca J, Vílchez JJ, Prieto F, de Frutos R, Palau F. Monrós E, et al. Among authors: prieto f. Am J Hum Genet. 1997 Jul;61(1):101-10. doi: 10.1086/513887. Am J Hum Genet. 1997. PMID: 9245990 Free PMC article.

4

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

Bort S, Sevilla T, García-Planells J, Blesa D, Paricio N, Vílchez JJ, Prieto F, Palau F. Bort S, et al. Among authors: prieto f. Hum Mutat. 1998;Suppl 1:S95-8. doi: 10.1002/humu.1380110132. Hum Mutat. 1998. PMID: 9452053 No abstract available.

5

[Early diagnosis of retinoblastoma: usefulness of searching for RB1 gene mutations].

Nájera C, Sánchez F, Mateu E, Prieto F, Beneyto M. Nájera C, et al. Among authors: prieto f. Med Clin (Barc). 2001 Mar 17;116(10):365-72. doi: 10.1016/s0025-7753(01)71832-5. Med Clin (Barc). 2001. PMID: 11333669 Spanish.

6

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.

Millán JM, Martínez F, Vilela C, Beneyto M, Prieto F, Nájera C. Millán JM, et al. Among authors: prieto f. Hum Genet. 1995 Aug;96(2):216-8. doi: 10.1007/BF00207382. Hum Genet. 1995. PMID: 7635473

7

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: prieto f. 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

8

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.

Smeyers P, Monrós E, Vílchez J, Lopez-Arlandis J, Prieto F, Palau F. Smeyers P, et al. Among authors: prieto f. Hum Genet. 1996 Jun;97(6):824-8. doi: 10.1007/BF02346197. Hum Genet. 1996. PMID: 8641704

9

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F. Bort S, et al. Among authors: prieto f. Hum Genet. 1997 Jun;99(6):746-54. doi: 10.1007/s004390050442. Hum Genet. 1997. PMID: 9187667

10

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.

Grüning G, Millan JM, Meins M, Beneyto M, Caballero M, Apfelstedt-Sylla E, Bosch R, Zrenner E, Prieto F, Gal A. Grüning G, et al. Among authors: prieto f. Hum Mutat. 1994;3(3):321-3. doi: 10.1002/humu.1380030326. Hum Mutat. 1994. PMID: 8019570 No abstract available.

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