Associated Papers
Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development.
Peng H et al.
Frontiers in Endocrinology, 2025
Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development.
Jiang W et al.
Molecular Genetics & Genomic Medicine, 2024
DHX37 and the Implications in Disorders of Sex Development: An Update Review.
de Oliveira FR et al.
Hormone Research in Paediatrics, 2024
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.
de Oliveira FR et al.
Life (basel, Switzerland), 2023
Monogenic Forms of DSD: An Update.
McElreavey K et al.
Hormone Research in Paediatrics, 2023
DHX37 and 46,XY DSD: A New Ribosomopathy?
McElreavey K et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Zidoune H et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2021
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The DEAH-box RNA helicase Dhr1 contains a remarkable carboxyl terminal domain essential for small ribosomal subunit biogenesis.
Roychowdhury A et al.
Nucleic Acids Research, 2019
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E et al.
Neuron, 2015