Associated Papers
Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson's disease.
Zhao Y et al.
Chinese Medical Journal, 2024
37341647 (PubMed )
Supplement: cm9-137-450-s001.pdf
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O et al.
American Journal of Medical Genetics. Part A, 2023
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y et al.
Frontiers in Endocrinology, 2022
SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys.
Wang Y et al.
Chinese Medical Journal, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Daich Varela M et al.
Ophthalmic Genetics, 2021
Prenatal exome sequencing in fetuses with congenital heart defects.
Li R et al.
Clinical Genetics, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.
Chen Z et al.
Molecular Genetics & Genomic Medicine, 2020
31867841 (PubMed )
Supplement: MGG3-8-e1079-s004.xlsx › Sheet1
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Blackburn PR et al.
American Journal of Medical Genetics. Part A, 2018
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
Takagi M et al.
Hormone Research in Paediatrics, 2014
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
Novel SOX2 mutation associated with ocular coloboma in a Chinese family.
Wang P et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2008
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