Associated Papers
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel
Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a Novel NR0B1 Mutation.
Abe I et al.
Journal of the Endocrine Society, 2022
WT1, NR0B1, NR5A1, LHX9, ZFP92, ZNF275, INSL3, and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort.
Ramos L
Genes, 2022
Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.
Yue F et al.
Molecular Cytogenetics, 2019
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
Mou L et al.
Plos One, 2015
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Paliwal P et al.
Molecular Human Reproduction, 2011
Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene.
Wheeler B et al.
Annals of Clinical Biochemistry, 2008
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
Achermann JC et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.
Xu XQ et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0
Select a paper to view details