Javier Granados-Riveron
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Explore the profile of Javier Granados-Riveron including associated specialties, affiliations and a list of published articles.
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11
Citations
568
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Recent Articles
1.
Farrera A, Villanueva M, Vizcaino A, Medina-Bravo P, Balderrabano-Saucedo N, Rives M, et al.
Head Face Med
. 2019 Dec;
15(1):29.
PMID: 31829202
Background: 22q11.2 deletion syndrome is a medical condition that results from genomic loss at chromosome 22. Affected patients exhibit large variability that ranges from a severe condition to mild symptoms....
2.
Al Turki S, Manickaraj A, Mercer C, Gerety S, Hitz M, Lindsay S, et al.
Am J Hum Genet
. 2017 Sep;
98(3):592.
PMID: 28863274
No abstract available.
3.
England J, Granados-Riveron J, Polo-Parada L, Kuriakose D, Moore C, Brook J, et al.
J Mol Cell Cardiol
. 2017 Apr;
106:1-13.
PMID: 28359939
Tropomyosin 1 (TPM1) is an essential sarcomeric component, stabilising the thin filament and facilitating actin's interaction with myosin. A number of sarcomeric proteins, such as alpha myosin heavy chain, play...
4.
Al Turki S, Manickaraj A, Mercer C, Gerety S, Hitz M, Lindsay S, et al.
Am J Hum Genet
. 2014 Apr;
94(4):574-85.
PMID: 24702954
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs...
5.
Ketley A, Chen C, Li X, Arya S, Robinson T, Granados-Riveron J, et al.
Hum Mol Genet
. 2013 Nov;
23(6):1551-62.
PMID: 24179176
Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there is no treatment. We have developed a medium throughput phenotypic assay, based on the identification of nuclear foci in...
6.
Palomino Doza J, Topf A, Bentham J, Bhattacharya S, Cosgrove C, Brook J, et al.
BMC Genet
. 2013 Jun;
14:57.
PMID: 23782575
Background: Epidemiological studies indicate a substantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating genetic factors that remain largely unknown. The Rho induced kinase 1 gene (ROCK1) is...
7.
Cordell H, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, et al.
Nat Genet
. 2013 May;
45(7):822-4.
PMID: 23708191
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of...
8.
Soemedi R, Wilson I, Bentham J, Darlay R, Topf A, Zelenika D, et al.
Am J Hum Genet
. 2012 Sep;
91(3):489-501.
PMID: 22939634
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic congenital heart...
9.
Goodship J, Hall D, Topf A, Mamasoula C, Griffin H, Rahman T, et al.
Circ Cardiovasc Genet
. 2012 Apr;
5(3):287-92.
PMID: 22503907
Background: Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet,...
10.
Soemedi R, Topf A, Wilson I, Darlay R, Rahman T, Glen E, et al.
Hum Mol Genet
. 2011 Dec;
21(7):1513-20.
PMID: 22199024
Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes...