Anna Ravella
Overview
Explore the profile of Anna Ravella including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
60
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0
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Recent Articles
1.
Albareda M, Ravella A, Castello M, Saborit S, Peramiquel L, Vila L
Springerplus
. 2014 Nov;
3:612.
PMID: 25392783
Unlabelled: Psoriasis is a chronic inflammatory disease of the skin which affects 1-3% of the population. A higher association of metabolic syndrome (MS) has been described amongst sufferers. The objective...
2.
Garcia-Linares C, Fernandez-Rodriguez J, Terribas E, Mercade J, Pros E, Benito L, et al.
Hum Mutat
. 2010 Oct;
32(1):78-90.
PMID: 21031597
Dermal neurofibromas (dNFs) are benign tumors of the peripheral nervous system typically associated with Neurofibromatosis type 1 (NF1) patients. Genes controlling the integrity of the DNA are likely to influence...
3.
Pros E, Fernandez-Rodriguez J, Benito L, Ravella A, Capella G, Blanco I, et al.
Eur J Hum Genet
. 2009 Nov;
18(5):614-7.
PMID: 19935827
Neurofibromatosis type 1 is one of the most common neurocutaneous autosomal dominant disorders. It is caused by mutations in the neurofibromatosis type 1 (NF1) gene and approximately 30-40% of them...
4.
Serra E, Pros E, Garcia C, Lopez E, Gili M, Gomez C, et al.
Genes Chromosomes Cancer
. 2007 Jun;
46(9):820-7.
PMID: 17563086
The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved...
5.
Pros E, Larriba S, Lopez E, Ravella A, Gili M, Kruyer H, et al.
Hum Mutat
. 2006 Aug;
27(11):1104-14.
PMID: 16937374
A significant number of neurofibromatosis type 1 (NF1) mutations result in exon skipping. The majority of these mutations do not occur in the canonical splice sites and can produce different...