Search Results - "Paloma, Eva"

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR by Dean, Michael, Ayuso, Carmen, Allikmets, Rando, Balcells, Susana, Paloma, Eva, Río, Teresa del, Gonzàlez-Duarte, Roser, Vilageliu, Lluísa, Martínez-Mir, Amalia

“…Retinitis pigmentosa (RP) denotes a group of inherited eye disorders characterized by loss of rod photoreceptor function, leading to a progressive degeneration…”
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INVESTMENT TREATY ARBITRATION: DUAL NATIONALS ARE NOW WELCOME: A WAY OUT OF ICSID’S DUAL NATIONALITY EXCLUSION by Treves, Eva Paloma

“…Investor claimants holding two nationalities have traditionally been barred from bringing a claim against a country of one of their nationalities when…”
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Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies by Paloma, Eva, Coco, Rosa, Martínez-Mir, Amalia, Vilageliu, Lluïsa, Balcells, Susana, Gonzàlez-Duarte, Roser

“…Genotype‐phenotype correlations highlighted the function of ABCA4 in retinitis pigmentosa (RP),cone‐rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus…”
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Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies by Paloma, Eva, Martínez-Mir, Amalia, Vilageliu, Lluïsa, Gonzàlez-Duarte, Roser, Balcells, Susana

“…The ABCA4 gene has been involved in several forms of inherited macular dystrophy. In order to further characterize the complex genotype–phenotype relationships…”
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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe by Maugeri, Alessandra, Flothmann, Kris, Hemmrich, Nadine, Ingvast, Sofie, Jorge, Paula, Paloma, Eva, Patel, Reshma, Rozet, Jean-Michel, Tammur, Jaana, Testa, Francesco, Balcells, Susana, Bird, Alan C, Brunner, Han G, Hoyng, Carel B, Metspalu, Andres, Simonelli, Francesca, Allikmets, Rando, Bhattacharya, Shomi S, D'Urso, Michele, Gonzàlez-Duarte, Roser, Kaplan, Josseline, te Meerman, Gerard J, Santos, Rosário, Schwartz, Marianne, Van Camp, Guy, Wadelius, Claes, Weber, Bernhard H F, Cremers, Frans P M

“…Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals…”
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Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies: MUTATIONS IN BRIEF by Paloma, Eva, Coco, Rosa, Martínez-Mir, Amalia, Vilageliu, Lluïsa, Balcells, Susana, Gonzàlez-Duarte, Roser

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Novel Mutations in the TULP1 Gene Causing Autosomal Recessive Retinitis Pigmentosa by Paloma, Eva, Hjelmqvist, Lars, Bayes, Monica, Garcia-Sandoval, Blanca, Ayuso, Carmen, Balcells, Susana, Gonzalez-Duarte, Roser

“…To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). Fifteen exons of the gene were screened by single-strand conformation…”
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Spectrum of ABCA4 ( ABCR ) gene mutations in Spanish patients with autosomal recessive macular dystrophies: ABCA4 Mutations in Spanish Patients by Paloma, Eva, Martínez-Mir, Amalia, Vilageliu, Lluïsa, Gonzàlez-Duarte, Roser, Balcells, Susana

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