Associated Papers
Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.
Racca JD et al.
The Journal of Biological Chemistry, 2024
39168182 (PubMed )
Supplement: mmc1.docx
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.
Bale G et al.
Journal of Gastroenterology and Hepatology, 2024
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2022
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Daich Varela M et al.
Ophthalmic Genetics, 2021
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
Takagi M et al.
Hormone Research in Paediatrics, 2014
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P et al.
The British Journal of Ophthalmology, 2007
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.
Faivre L et al.
American Journal of Medical Genetics. Part A, 2006
Select a paper to view details