Hereditary eye disease

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
C Ziviello, F Simonelli, F Testa, M Anastasi, S B Marzoli, B Falsini, D Ghiglione, C Macaluso, M P Manitto, C Garrè, A Ciccodicola, E Rinaldi, S Banfi

Journal of Medical Genetics Jul 2005, 42 (7) e47; DOI: 10.1136/jmg.2005.031682
Mutation analysis of GABRR1 andGABRR2 in autosomal recessive retinitis pigmentosa (RP25)
I MARCOS, A RUIZ, C J BLASCHAK, S BORREGO, G R CUTTING, G ANTIÑOLO

Journal of Medical Genetics Jun 2000, 37 (6) e5; DOI: 10.1136/jmg.37.6.e5
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation
V A Street, J C Kallman, K L Kiemele

Journal of Medical Genetics May 2004, 41 (5) e62; DOI: 10.1136/jmg.2003.013557
Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa
E Paloma, A Martínez-Mir, B García-Sandoval, C Ayuso, L Vilageliu, R Gonzàlez-Duarte, S Balcells

Journal of Medical Genetics Oct 2002, 39 (10) e66; DOI: 10.1136/jmg.39.10.e66
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
J C Booij, R J Florijn, J B ten Brink, W Loves, F Meire, M J van Schooneveld, P TVM de Jong, A A B Bergen

Journal of Medical Genetics Nov 2005, 42 (11) e67; DOI: 10.1136/jmg.2005.035121
MYO7A mutation screening in Usher syndrome type I patients from diverse origins
T Jaijo, E Aller, M Beneyto, C Najera, C Graziano, D Turchetti, M Seri, C Ayuso, M Baiget, F Moreno, C Morera, H Perez-Garrigues, J M Millan

Journal of Medical Genetics Mar 2007, 44 (3) e71; DOI: 10.1136/jmg.2006.045377
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
S Bernal, C Ayuso, G Antiñolo, A Gimenez, S Borrego, M J Trujillo, I Marcos, M Calaf, E Del Rio, M Baiget

Journal of Medical Genetics Jan 2003, 40 (1) e8; DOI: 10.1136/jmg.40.1.e8
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome
N A Garrison, Z Yi, O Cohen-Barak, M Huizing, L M Hartnell, W A Gahl, M H Brilliant

Journal of Medical Genetics Jun 2004, 41 (6) e86; DOI: 10.1136/jmg.2003.014902
Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA
A Solano, J Gámez, F J Carod, M Pineda, A Playán, E López-Gallardo, A L Andreu, J Montoya

Journal of Medical Genetics Jul 2003, 40 (7) e86; DOI: 10.1136/jmg.40.7.e86
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa
S Bernal, M Calaf, M Garcia-Hoyos, B Garcia-Sandoval, J Rosell, A Adan, C Ayuso, M Baiget

Journal of Medical Genetics Jul 2003, 40 (7) e89; DOI: 10.1136/jmg.40.7.e89

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