Associated Papers
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
Whole-exome screening for primary congenital glaucoma in Lebanon.
Makhoul NJ et al.
Ophthalmic Genetics, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › SIFT
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Association of Vitamin D Receptor Gene Polymorphisms With the Evolution of MODY Diabetes: Study in Tunisian Patients.
Guesmi A et al.
Biological Research for Nursing, 2021
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom C et al.
Ophthalmic Genetics, 2018
AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells.
Lecoq AL et al.
Endocrine-related Cancer, 2016
Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.
Al-Haddad C et al.
Ophthalmic Genetics, 2016
Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population.
Geyer O et al.
American Journal of Ophthalmology, 2011
A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.
Berker N et al.
Acta Ophthalmologica, 2009
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