Gonzalez-Duarte R - Search Results

1

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM. Perrault I, et al. PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7. PLoS One. 2013. PMID: 23308101 Free PMC article.

2

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

de Castro-Miró M, Pomares E, Lorés-Motta L, Tonda R, Dopazo J, Marfany G, Gonzàlez-Duarte R. de Castro-Miró M, et al. PLoS One. 2014 Feb 7;9(2):e88410. doi: 10.1371/journal.pone.0088410. eCollection 2014. PLoS One. 2014. PMID: 24516651 Free PMC article.

3

High-throughput approaches for the genetic diagnosis of retinal dystrophies.

Pomares E, Marfany G, Gonzàlez-Duarte R. Pomares E, et al. Adv Exp Med Biol. 2012;723:329-35. doi: 10.1007/978-1-4614-0631-0_43. Adv Exp Med Biol. 2012. PMID: 22183350 Review. No abstract available.

4

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

Pomares E, Marfany G, Brión MJ, Carracedo A, Gonzàlez-Duarte R. Pomares E, et al. Hum Mutat. 2007 May;28(5):511-6. doi: 10.1002/humu.20479. Hum Mutat. 2007. PMID: 17279538

5

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R. Pomares E, et al. Eur J Hum Genet. 2010 Jan;18(1):118-24. doi: 10.1038/ejhg.2009.114. Eur J Hum Genet. 2010. PMID: 19584904 Free PMC article.

6

Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.

Pomares E, Burés-Jelstrup A, Ruiz-Nogales S, Corcóstegui B, González-Duarte R, Navarro R. Pomares E, et al. Invest Ophthalmol Vis Sci. 2012 Jan 31;53(1):532-7. doi: 10.1167/iovs.11-7964. Invest Ophthalmol Vis Sci. 2012. PMID: 22199244

7

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624

8

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G. Pomares E, et al. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14. doi: 10.1167/iovs.08-3208. Epub 2009 Jun 10. Invest Ophthalmol Vis Sci. 2009. PMID: 19516003

9

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

Permanyer J, Navarro R, Friedman J, Pomares E, Castro-Navarro J, Marfany G, Swaroop A, Gonzàlez-Duarte R. Permanyer J, et al. Invest Ophthalmol Vis Sci. 2010 May;51(5):2656-63. doi: 10.1167/iovs.09-4857. Epub 2009 Dec 30. Invest Ophthalmol Vis Sci. 2010. PMID: 20042663 Free PMC article.

10

Functional implications of the presenilin dimerization: reconstitution of gamma-secretase activity by assembly of a catalytic site at the dimer interface of two catalytically inactive presenilins.

Cervantes S, Saura CA, Pomares E, Gonzàlez-Duarte R, Marfany G. Cervantes S, et al. J Biol Chem. 2004 Aug 27;279(35):36519-29. doi: 10.1074/jbc.M404832200. Epub 2004 Jun 25. J Biol Chem. 2004. PMID: 15220354 Free article.

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