Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
37228816 (PubMed )
Supplement: Table3.xlsx › Isolated
Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.
Hérissé AL et al.
The British Journal of Dermatology, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.
Fozia F et al.
Frontiers in Pediatrics, 2021
34414147 (PubMed )
Supplement: Table_1.docx
Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.
Charlesworth A et al.
The British Journal of Dermatology, 2020
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.
Prasad MK et al.
Journal of Dental Research, 2016
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.
Gostyńska KB et al.
European Journal of Human Genetics : Ejhg, 2016
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