Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Fuse N et al.
Japanese Journal of Ophthalmology, 2024
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
Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.
Franco E et al.
Cornea, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Ma A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
Grønskov K et al.
Journal of Glaucoma, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.
Hallengren E et al.
Plos One, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al.
Bmc Medical Genetics, 2014
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
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
Lim SH et al.
American Journal of Ophthalmology, 2013
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá E et al.
Molecular Vision, 2013
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Primary Congenital Glaucoma and the Involvement of CYP1B1.
Kaur K et al.
Middle East African Journal of Ophthalmology, 2011
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto F et al.
Investigative Ophthalmology & Visual Science, 2010
CYP1B1, a developmental gene with a potential role in glaucoma therapy.
Choudhary D et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2009
A clinical and molecular genetic study of German patients with primary congenital glaucoma.
Weisschuh N et al.
American Journal of Ophthalmology, 2009
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.
Berker N et al.
Acta Ophthalmologica, 2009
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.
Dimasi DP et al.
Clinical Genetics, 2007
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).
Chavarria-Soley G et al.
Journal of Glaucoma, 2006
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2006
Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil.
Sena DF et al.
Journal of Medical Genetics, 2004
[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].
Koraszewska-Matuszewska B et al.
Klinika Oczna, 2004
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
Colomb E et al.
Human Mutation, 2003
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Sitorus R et al.
Journal of Medical Genetics, 2003
Molecular genetics of primary congenital glaucoma in Brazil.
Stoilov IR et al.
Investigative Ophthalmology & Visual Science, 2002
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
Patel HY et al.
Clinical & Experimental Ophthalmology, 0
Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations.
Morales-Fernandez L et al.
Journal of Glaucoma, 0
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0
Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.
Rodrigues R et al.
Ophthalmology. Glaucoma, 0