F Blanco-Kelly
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Explore the profile of F Blanco-Kelly including associated specialties, affiliations and a list of published articles.
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10
Citations
95
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Recent Articles
1.
Arteche-Lopez A, Avila-Fernandez A, Riveiro Alvarez R, Almoguera B, Bustamante Aragones A, Martin-Merida I, et al.
Sci Rep
. 2022 Nov;
12(1):19209.
PMID: 36357507
Nowadays, exome sequencing is a robust and cost-efficient genetic diagnostic tool already implemented in many clinical laboratories. Despite it has undoubtedly improved our diagnostic capacity and has allowed the discovery...
2.
Blanco-Kelly F, Tarilonte M, Villamar M, Damian A, Tamayo A, Moreno-Pelayo M, et al.
Arch Soc Esp Oftalmol (Engl Ed)
. 2021 Nov;
96 Suppl 1:4-14.
PMID: 34836588
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment....
3.
Perea-Romero I, Blanco-Kelly F, Sanchez-Navarro I, Lorda-Sanchez I, Tahsin-Swafiri S, Avila-Fernandez A, et al.
Hum Genet
. 2021 Aug;
140(12):1665-1678.
PMID: 34448047
Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis,...
4.
Blanco-Kelly F, Tarilonte M, Villamar M, Damian A, Tamayo A, Moreno-Pelayo M, et al.
Arch Soc Esp Oftalmol (Engl Ed)
. 2021 Jul;
PMID: 34243981
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment....
5.
Arteche-Lopez A, Avila-Fernandez A, Romero R, Riveiro-Alvarez R, Lopez-Martinez M, Gimenez-Pardo A, et al.
Sci Rep
. 2021 Mar;
11(1):5697.
PMID: 33707547
Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases...
6.
Plaisancie J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, et al.
Hum Genet
. 2018 Oct;
137(10):831-846.
PMID: 30291432
There is an increasing implication of non-coding regions in pathological processes of genetic origin. This is partly due to the emergence of sophisticated techniques that have transformed research into gene...
7.
Blanco-Kelly F, Villaverde-Montero C, Lorda-Sanchez I, Millan J, Trujillo-Tiebas M, Ayuso C
Arch Soc Esp Oftalmol
. 2013 Apr;
88(4):145-52.
PMID: 23597644
Introduction: Aniridia is a panocular disorder which occurs in 1/50,000 to 1/100,000 live births and can appear either in isolated form or in the context of a syndrome. Isolated aniridia...
8.
Hernan I, Gamundi M, Borras E, Maseras M, Garcia-Sandoval B, Blanco-Kelly F, et al.
Clin Genet
. 2011 Oct;
82(5):446-52.
PMID: 21981118
Mutations in the gene encoding the transcription factor neural retina leucine zipper (NRL) are known to cause autosomal dominant (adRP) or recessive (arRP) retinitis pigmentosa (RP). In an adRP Spanish...
9.
Blanco-Kelly F, Alvarez-Lafuente R, Alcina A, Abad-Grau M, de las Heras V, Lucas M, et al.
Genes Immun
. 2010 Oct;
12(2):145-8.
PMID: 20962851
TNFRSF6B and TNFRSF14 genes were recently associated with Crohn's disease and rheumatoid arthritis. TNFRSF14 is known as herpes virus entry mediator (HVEM), and herpes viruses have been involved in the...
10.
Cenit M, Blanco-Kelly F, de las Heras V, Bartolome M, de la Concha E, Urcelay E, et al.
Mult Scler
. 2009 Jun;
15(8):913-7.
PMID: 19556317
Background: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system. Interferon-beta is the most usual therapy in relapsing-remiting MS. However, approximately 50% of the treated patients...