L Feliubadalo
Overview
Explore the profile of L Feliubadalo including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
250
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0
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Recent Articles
1.
Quiles F, Teule A, Martinussen Tandstad N, Feliubadalo L, Tornero E, Del Valle J, et al.
Clin Genet
. 2016 Feb;
90(4):361-5.
PMID: 26864382
Breast cancer (BC) is the most frequent cancer among women in Morocco. However, the role of the most prevalent BC-predisposing genes, BRCA1 and BRCA2, has been largely unexplored. To help...
2.
Osorio A, Milne R, Alonso R, Pita G, Peterlongo P, Teule A, et al.
Br J Cancer
. 2011 Mar;
104(8):1356-61.
PMID: 21427728
Background: Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and...
3.
Font M, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, et al.
Hum Mol Genet
. 2001 Feb;
10(4):305-16.
PMID: 11157794
Cystinuria (OMIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in nephrolithiasis of cystine. Mutations in SLC3A1, which encodes rBAT, cause...
4.
Feliubadalo L, Bisceglia L, Font M, Dello Strologo L, Beccia E, Arslan-Kirchner M, et al.
Genomics
. 1999 Sep;
60(3):362-5.
PMID: 10493835
Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes have been described. The gene responsible for type I, SLC3A1, encodes the amino acid transporter rBAT. This gene is...
5.
Feliubadalo L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, et al.
Nat Genet
. 1999 Sep;
23(1):52-7.
PMID: 10471498
Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not...
6.
Torrents D, Mykkanen J, Pineda M, Feliubadalo L, Estevez R, de Cid R, et al.
Nat Genet
. 1999 Mar;
21(3):293-6.
PMID: 10080182
Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish population; symptoms include failure to thrive, growth...
7.
Bisceglia L, Calonge M, Totaro A, Feliubadalo L, Melchionda S, Garcia J, et al.
Am J Hum Genet
. 1997 Mar;
60(3):611-6.
PMID: 9042921
Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes (I, II, and III) have been described. An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be...