about
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes.Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies.Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndromeEstrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk: a Spanish case-control study.mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334ThrThe Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer featuresFANCD2 associated with sporadic breast cancer riskIdentification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancerIdentification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Eva Barroso
@ast
Eva Barroso
@en
Eva Barroso
@es
Eva Barroso
@nl
Eva Barroso
@sl
type
label
Eva Barroso
@ast
Eva Barroso
@en
Eva Barroso
@es
Eva Barroso
@nl
Eva Barroso
@sl
prefLabel
Eva Barroso
@ast
Eva Barroso
@en
Eva Barroso
@es
Eva Barroso
@nl
Eva Barroso
@sl
P106
P21
P31
P496
0000-0002-7871-8675