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List of works by María Sabater-Molina

A gene variant in the transcription factor 7-like 2 (TCF7L2) is associated with an increased risk of gestational diabetes mellitus

article

A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.

scientific article published on 16 October 2012

A study of the pathogenicity of variants in familial heart disease. The value of cosegregation

scientific article published on 15 March 2019

An R1632C variant in the SCN5A gene causing Brugada syndrome.

scientific article

Barth syndrome in adulthood: a clinical case

scientific article published on 21 September 2012

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

scientific article published on 08 June 2020

Biological significance of dietary polyamines.

scientific article published on 20 November 2006

Effects of fructooligosaccharides on cecum polyamine concentration and gut maturation in early-weaned piglets.

scientific article

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

scientific article published on 08 October 2019

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

scientific article published on 01 November 2018

Genetics of feline hypertrophic cardiomyopathy

scientific article published on 25 March 2020

Hypertrophic cardiomyopathy

scientific article published on 14 November 2017

Hypertrophic cardiomyopathy or storage cardiomyopathy? Role of genetics to predict outcome

scientific article published on 23 July 2011

Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

scientific article published on 01 December 2010

Left atrial remodelling in hypertrophic cardiomyopathy: relation with exercise capacity and biochemical markers of tissue strain and remodelling.

scientific article published in October 2009

Mutation in JPH2 cause dilated cardiomyopathy

scientific article published on 29 July 2016

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

scientific article published on 13 January 2013

Phenotype-modifying Factors in Hypertrophic Cardiomyopathy. Response

scientific article published on 25 June 2018

Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance

scientific article published on 01 January 2018

Polyamines in human breast milk for preterm and term infants ⬇️

scientific article published on January 3, 2013

RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy

scientific article published on 06 December 2019

Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

scientific article

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