Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development
Author:
Publisher
S. Karger AG
Subject
Developmental Biology,Embryology,Endocrinology, Diabetes and Metabolism
Reference29 articles.
1. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
2. Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis
3. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
4. Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1
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1. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development;eBioMedicine;2024-01
2. Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1;Animal Reproduction Science;2020-12
3. In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants;Reproductive BioMedicine Online;2020-01
4. The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development;Molecular Biology Reports;2019-07-23
5. Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis;Clinical Endocrinology;2018-05-23
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