Associated Papers
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal
Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.
Ahmad S et al.
Scientific Reports, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE et al.
Birth Defects Research, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
38755526 (PubMed )
Supplement: 12864_2024_10353_MOESM1_ESM.xlsx › S3._Solved_cases
Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.
Franco E et al.
Cornea, 2024
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
Tehreem R et al.
Plos One, 2022
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.
Stingl JV et al.
Journal of Clinical Medicine, 2021
Genetic analysis of patients with primary congenital glaucoma.
Ava S et al.
International Ophthalmology, 2021
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.
Rashid M et al.
Molecular Vision, 2019
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Prokudin I et al.
European Journal of Human Genetics : Ejhg, 2014
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.
Sheikh SA et al.
Molecular Vision, 2014
Cytochrome P450 1B1, a new keystone in gene-environment interactions related to human head and neck cancer?
Thier R et al.
Archives of Toxicology, 2002
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
Micheal S et al.
Clinical & Experimental Ophthalmology, 0
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