Associated Papers
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Xu Y et al.
Orphanet Journal of Rare Diseases, 2024
39623453 (PubMed )
Supplement: 13023_2024_3472_MOESM1_ESM.docx
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
Yang Y et al.
Clinical Endocrinology, 2013
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
Dateki S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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