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Authors whose works are in public domain in at least one jurisdiction

List of works by Eva Barroso

1-16 of 16 results

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Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

scientific article published on 2 December 2005
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

scientific article published on 8 December 2010
Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies

scientific article
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

scientific article published on 01 July 2012
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

scientific article published on October 2014
FANCD2 associated with sporadic breast cancer risk

scientific article published on 05 May 2006
Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk: a Spanish case-control study

scientific article published in July 2006
The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features

article
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

scientific article published on 29 June 2011
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

scientific article published on 20 April 2010
Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome

scientific article published on 5 March 2016
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

scientific article
Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

scientific article published on June 29, 2012
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report

scientific article published on 16 June 2020

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