Fiona Blanco-Kelly

Fiona Blanco-Kelly

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Fiona Blanco-Kelly

Fiona Blanco-Kelly

Publications by authors named "Fiona Blanco-Kelly"

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42Publications

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Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Ophthalmology 2019 Aug 20;126(8):1181-1188. Epub 2019 Mar 20.

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2019.03.018DOI Listing
August 2019

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

Am J Ophthalmol 2019 May 23. Epub 2019 May 23.

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.05.014DOI Listing
May 2019

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Invest Ophthalmol Vis Sci 2018 05;59(6):2345-2354

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.18-23854DOI Listing
May 2018

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.

Stem Cell Res 2018 04 4;28:96-99. Epub 2018 Jan 4.

National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Centre Principe Felipe, c/Eduardo Primo Yúfera 3, Valencia 46012, Spain; Department of Tissue Cultures and Stem Cells, Institute of Experimental Medicine, Academy of Science of the Czech Republic, Prague, Czech Republic; Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center Principe Felipe, c/Eduardo Primo Yufera 3, Valencia 46012, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.01.004DOI Listing
April 2018

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

PLoS One 2017 23;12(2):e0172363. Epub 2017 Feb 23.

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0172363PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322952PMC
August 2017

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Invest Ophthalmol Vis Sci 2017 02;58(2):1045-1053

Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.16-20515DOI Listing
February 2017

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

BMC Med Genet 2017 Jan 7;18(1). Epub 2017 Jan 7.

Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.

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http://dx.doi.org/10.1186/s12881-016-0364-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219735PMC
January 2017

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

PLoS One 2015 18;10(3):e0119272. Epub 2015 Mar 18.

Área de Genética, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain; Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain; Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119272PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364892PMC
March 2016

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

Mol Vis 2014 25;20:1398-410. Epub 2014 Sep 25.

Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain ; Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173666PMC
June 2015

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

Invest Ophthalmol Vis Sci 2015 Apr;56(4):2173-82

Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.14-16178DOI Listing
April 2015

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

JAMA Ophthalmol 2015 Feb;133(2):157-64

Servicio de Genética, Instituto de Investigación-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain2Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.4498DOI Listing
February 2015

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.

Acta Ophthalmol 2015 Feb 18;93(1):e38-44. Epub 2014 Nov 18.

Department of Genetics, Health Research Institute Fundacion Jimenez Diaz, University Hospital (IIS-FJD, UAM), Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases CIBERER, ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1111/aos.12486DOI Listing
February 2015

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Orphanet J Rare Dis 2014 Nov 18;9:168. Epub 2014 Nov 18.

Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Semisótano Escuela de Enfermería, Hospital Universitario La Fe, Avda. Campanar, 21, 46009, Valencia, Spain.

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http://dx.doi.org/10.1186/s13023-014-0168-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245769PMC
November 2014

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7562-71. Epub 2014 Oct 23.

Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.

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http://dx.doi.org/10.1167/iovs.14-14938DOI Listing
October 2014

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Ophthalmology 2014 Jan 18;121(1):399-407. Epub 2013 Oct 18.

Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.08.028DOI Listing
January 2014

Early predictors of gestational hypertension in a low-risk cohort. Results of a pilot study.

J Hypertens 2013 Dec;31(12):2380-5

aHypertension Unit. Hospital Clínico San Carlos bDepartment of Clinical Chemistry cDepartment of Epidemiology and Preventive Medicine dDepartment of Gynecology and Obstetrics, Hospital Clínico San Carlos. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.

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http://dx.doi.org/10.1097/HJH.0b013e32836523f6DOI Listing
December 2013

An update on the genetics of usher syndrome.

J Ophthalmol 2011 23;2011:417217. Epub 2010 Dec 23.

Unidad de Genética, Instituto de Investigación Sanitaria-La Fe, 46009 Valencia, Spain.

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http://www.humana-genetika.org/wp-content/uploads/2011/11/An
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http://www.hindawi.com/journals/joph/2011/417217/
Publisher Site
http://dx.doi.org/10.1155/2011/417217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3017948PMC
July 2011

TLR4 haplotypes in multiple sclerosis: a case-control study in the Spanish population.

J Neuroimmunol 2007 Dec 29;192(1-2):215-8. Epub 2007 Oct 29.

Clinical Immunology Department, Hospital Clínico San Carlos, Spain.

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http://dx.doi.org/10.1016/j.jneuroim.2007.10.001DOI Listing
December 2007