T Solans
Hospital de Sant Pau
7 Papers
28 Citations
T Solans is an academic researcher from Hospital de Sant Pau. The author has contributed to research in topics: Retinitis pigmentosa & Frameshift mutation. The author has an hindex of 5, co-authored 7 publications.
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Papers
Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa
Mònica Bayés,Mara Giordano,Susana Balcells,Daniel Grinberg,Llusïsa Vilageliu,Immaculada Martínez,Carmen Ayuso,Javier Benitez,María A Ramos-Arroyo,Pilar Chivelet,T Solans,Diana Valverde,Serge Amselem,Michel Goossens,Montserrat Baiget,Roser Gonzàlez-Duarte,Claude Besmond +16 more
TL;DR: Molecular characterization of the gene in a consanguineous pedigree revealed a homozygous 71′bp tandem duplication in exon 1 of the affected member, suggesting that this mutant allele is the underlying cause of ARRP in this patient.
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Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
Serafín Bernal,T Solans,MJ Gamundi,I Hernan,L De Jorge,Miguel Carballo,R Navarro,E. F. Tizzano,Carmen Ayuso,M Baiget +9 more
TL;DR: Experimental data confirm the splice predictions made by the computer programs and reinforce the idea that NR2E3 gene is involved in several retinal diseases without a clear genotype–phenotype correlation.
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A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family
Diana Valverde,T Solans,Daniel Grinberg,Susana Balcells,Lluïsa Vilageliu,Mònica Bayés,Pilar Chivelet,Claude Besmond,Michel Goossens,Roser Gonzàlez-Duarte,Montserrat Baiget +10 more
TL;DR: The molecular analysis of the β subunit of the rod phosphodiesterase (PDEB) gene in a consanguineous autosomal recessive retinitis pigmentosa family that shows homozygosity for polymorphisms in the genomic region comprising this gene, and positive linkage between a PDEB marker and the diesease is reported.
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•Journal Article
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
Maria Giuseppina Miano,Diana Valverde,T Solans,Barbara Grammatico,Carmela Migliaccio,Cirigliano,DeBernardo C,Ventruto,Thomas Meitinger,A F Wright,Del Porto G,Montserrat Baiget,Michele D'Urso,Alfredo Ciccodicola +13 more
TL;DR: Two new mutations, the first a single base pair deletion and the other a two base pairs deletion, have been found in one Spanish and one Italian family.
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Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.
TL;DR: Results indicate that mutations in the RLBP1 gene are not responsible for the ARRP or retinitis punctata albescens in this set of Spanish families.
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