Associated Papers
Postmortem Diagnosis of Dilated Cardiomyopathy: A Systematic Review Revisiting Fundamentals.
Calabrese S et al.
Diagnostics (basel, Switzerland), 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant.
Brachet C et al.
European Journal of Endocrinology, 2024
Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.
Patjamontri S et al.
Hormone Research in Paediatrics, 2024
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M et al.
International Journal of Molecular Sciences, 2023
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
Maharaj AV
Frontiers in Endocrinology, 2023
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
Tolerance to Selenoprotein Loss Differs between Human and Mouse.
Santesmasses D et al.
Molecular Biology and Evolution, 2020
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.
Rojnueangnit K et al.
Pediatric Cardiology, 2020
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Chan LF et al.
Frontiers in Endocrinology, 2015
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
Prasad R et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Integrative data mining highlights candidate genes for monogenic myopathies.
Abath Neto O et al.
Plos One, 2014
Inherited, Non-CAH Primary Adrenal Insufficiency in Children: A Genetic and Clinical Profile from a Tertiary Care Centre.
Sheya A et al.
Indian Journal of Endocrinology and Metabolism, 0