Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.
Hattori A et al.
Biomolecules, 2023
Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.
Miclea D et al.
Diagnostics (basel, Switzerland), 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
Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.
Yang F et al.
European Journal of Pediatrics, 2009
Genetic disorders involving adrenal development.
Lin L et al.
Endocrine Development, 2007
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
Simard J et al.
Endocrine Reviews, 2005
A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Wang J et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 1999
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
Reutens AT et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Bassett JH et al.
Clinical Endocrinology, 1999
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH et al.
American Journal of Human Genetics, 1998
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Nakae J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Kinoshita E et al.
Hormone Research, 1997