Sheila Castro Sánchez-rekin lankidetzan egindako argitalpenak (15)

2021

  1. ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

    Frontiers in Cell and Developmental Biology, Vol. 9

2020

  1. Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model (Scientific Reports, (2019), 9, 1, (12936), 10.1038/s41598-019-49217-7)

    Scientific Reports

2019

  1. Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. Bardet-biedl syndrome as a chaperonopathy: Dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12)

    Frontiers in Molecular Biosciences

  2. Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients

    Journal of Cellular and Molecular Medicine, Vol. 21, Núm. 10, pp. 2268-2275

  3. Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

    Scientific Reports, Vol. 7, Núm. 1

  4. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

    PLoS ONE, Vol. 12, Núm. 8

2015

  1. Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España

    Medicina Clinica, Vol. 145, Núm. 4, pp. 147-152

  2. Alström syndrome: Current perspectives

    Application of Clinical Genetics, Vol. 8, pp. 171-179

  3. DNA Methylation and Ciliopathies: A way to be explored

    Cilia

  4. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

    Journal of Medical Genetics, Vol. 52, Núm. 8, pp. 503-513

  5. Performing whole-exome sequencing in Bardet-Bield syndrome

    Cilia

2014

  1. Overview of Bardet-Biedl syndrome in Spain: Identification of novel mutations in BBS1, BBS10 and BBS12 genes

    Clinical Genetics

2013

  1. Bardet-Biedl syndrome: A rare genetic disease

    Journal of Pediatric Genetics, Vol. 2, Núm. 2, pp. 77-83

2012

  1. El diagnóstico molecular en el Síndrome de Bardet-Biedl

    Investigación: cultura, ciencia y tecnología, Núm. 8, pp. 6-12