Publications by authors named "Eva Barroso"

Claim this Profile
D
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Natasha Darras, Thoa K Ha, Shannon Rego, Pierre-Marie Martin, Eva Barroso

Am J Med Genet A· November 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Orbital and peri-orbital amyloidosis: a report of four cases.
Ramón Medel Jiménez, Juan C Sánchez España, Luz M Vasquez, Alejandra Tapia Bahamondes, Max Rondón, Eva Ayala Barroso

Orbit· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome.
Marta Rubio, Sara Valdeolivas, Fabiana Piscitelli, Roberta Verde, Valentina Satta, Eva Barroso

Pharmacol Res Perspect· April 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Beatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez-Carrizosa

Eur J Hum Genet· July 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
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.
Eva Barroso, Julia Berges-Soria, Sara Benito-Sanz, Carlos Ivan Rivera-Pedroza, María Juliana Ballesta-Martínez

Am J Med Genet A· April 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
Sara Benito-Sanz, Jose Luis Royo, Eva Barroso, Beatriz Paumard-Hernández, Ana C Barreda-Bonis

J Med Genet· July 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.
Purificación Ros-Pérez, Francisco J Regidor, Esmeralda Colino, Cristina Martínez-Payo, Eva Barroso

BMC Pediatr· June 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Verónica Barca-Tierno, Miriam Aza-Carmona, Eva Barroso, Damia Heine-Suner, Dimitar Azmanov

Eur J Hum Genet· December 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
Eva Barroso, Virginia Pérez-Carrizosa, Ignacio García-Recuero, Marc J Glucksman, Andrew O Wilkie

Am J Med Genet A· December 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
Eva Barroso, Sara Benito-Sanz, Alberta Belinchón, Patricia Yuste-Checa, Ricardo Gracia

Eur J Med Genet· October 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies.
Eva Barroso, Lara P Fernandez, Roger L Milne, Guillermo Pita, Elena Sendagorta

BMC Cancer· December 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes.
Gloria Ribas, Anna González-Neira, Antonio Salas, Roger L Milne, Ana Vega, Eva Barroso

Hum Genet· February 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis