María Segura‐Puimedon

Author

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

M Segura-Puimedon, M., Segura-Puimedon, Maria Segura, Maria Segura Puimedon, Maria Segura-Puimedon, María Segura‐Puimedon

Publications

338

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Universitat Pompeu Fabra Centro de Investigación Biomédica en Red Oryzon Genomics (Spain)University of Illinois Urbana-Champaign

About

María Segura‐Puimedon is an author at Centre for Biomedical Network Research on Rare Diseases specializing in cell signaling, molecular signaling, and gene expression.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	20
2	Cell Biology	1	1	20
3	Cell Signaling	1	1	20
4	Gene Expression	1	1	20
5	Molecular Signaling	1	1	20

María Segura‐Puimedon

Publications

257

Citations

H-Index

Page 1

	Year	Citations
Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder María Segura‐Puimedon, Ignasi Sahún, Émilie Velot, Human Molecular Genetics	2014	76
Essential role of the N-terminal region of TFII-I in viability and behavior Jaume Lucena, Susana Pezzi, Ester Aso, BMC Medical Genetics	2010	38
Metabolic abnormalities in Williams–Beuren syndrome María Gabriela Palacios-Verdú, María Segura‐Puimedon, Cristina Borralleras, Journal of Medical Genetics	2015	38
Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome Victoria Campuzano, María Segura‐Puimedon, Verena Terrado, PLoS Genetics	2012	35
Proatherosclerotic Effect of the α1-Subunit of Soluble Guanylyl Cyclase by Promoting Smooth Muscle Phenotypic Switching María Segura‐Puimedon, Evanthia Mergia, Jaafar Al‐Hasani, American Journal Of Pathology	2016	23
TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif María Segura‐Puimedon, Cristina Borralleras, Luis A. Pérez‐Jurado, Gene Transcriptional RegulationSystems BiologySignal TransductionSignaling PathwayCell Regulation	2013	20
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy Ana T. Marcos, Elena Martín‐Doncel, Patricia Morejón‐García, Annals of Clinical and Translational Neurology	2020	17
Next-Generation Sequencing Gene Panels and “Solo” Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses Montse Pauta, Berta Campos, María Segura‐Puimedon, Fetal Diagnosis and Therapy	2021	10

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