Sheila
Castro Sánchez
Publicacións nas que colabora con Sheila Castro Sánchez (15)
2021
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ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia
Frontiers in Cell and Developmental Biology, Vol. 9
2020
2019
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Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model
Scientific Reports, Vol. 9, Núm. 1
2017
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Bardet-biedl syndrome as a chaperonopathy: Dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12)
Frontiers in Molecular Biosciences
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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
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Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension
Scientific Reports, Vol. 7, Núm. 1
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Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
PLoS ONE, Vol. 12, Núm. 8
2015
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Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España
Medicina Clinica, Vol. 145, Núm. 4, pp. 147-152
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Alström syndrome: Current perspectives
Application of Clinical Genetics, Vol. 8, pp. 171-179
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DNA Methylation and Ciliopathies: A way to be explored
Cilia
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Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families
Journal of Medical Genetics, Vol. 52, Núm. 8, pp. 503-513
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Performing whole-exome sequencing in Bardet-Bield syndrome
Cilia
2014
2013
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Bardet-Biedl syndrome: A rare genetic disease
Journal of Pediatric Genetics, Vol. 2, Núm. 2, pp. 77-83
2012
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El diagnóstico molecular en el Síndrome de Bardet-Biedl
Investigación: cultura, ciencia y tecnología, Núm. 8, pp. 6-12