Associated Papers
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE et al.
Birth Defects Research, 2024
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B et al.
Clinical Genetics, 2022
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.
Stingl JV et al.
Journal of Clinical Medicine, 2021
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
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.
Lang E et al.
Translational Vision Science & Technology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.
Waryah YM et al.
International Journal of Ophthalmology, 2019
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
Reis LM et al.
Clinical Genetics, 2016
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.
Rauf B et al.
Human Genome Variation, 2016
Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.
Nicolas E et al.
Oncotarget, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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
Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.
Narooie-Nejad M et al.
Molecular Vision, 2009
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
Firasat S et al.
Molecular Vision, 2008
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
Chitsazian F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.
Simões MJ et al.
Ophthalmic Genetics, 0
Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.
Rodrigues R et al.
Ophthalmology. Glaucoma, 0