Associated Papers
Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.
Yesharim L et al.
Molecular Biology Reports, 2025
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.
Shu QM et al.
Human Genomics, 2025
Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Vasilyeva T et al.
Genes, 2024
Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.
Alzaben KA et al.
Ophthalmology. Retina, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.
Arepalli S et al.
Ophthalmic Genetics, 2022
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
Patel CK et al.
Ophthalmic Genetics, 2022
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.
Chong SC et al.
Frontiers in Neurology, 2022
35693012 (PubMed )
Supplement: Data_Sheet_1.xlsx › Sheet1
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger N et al.
European Journal of Ophthalmology, 2021
Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
Li S et al.
Genes, 2021
An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.
Wang P et al.
Frontiers in Cell and Developmental Biology, 2021
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2020
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Hull S et al.
Jama Ophthalmology, 2016
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