Associated Papers
Integrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.
Leban T et al.
Genes, 2025
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
40002721 (PubMed )
Supplement: biomedicines-13-00308-s001.zip › biomedicines-3431635_Additional_file_1-xml.pdf
Intra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review.
Lanza CRM et al.
Journal of Applied Oral Science : Revista Fob, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Estrella E et al.
Advanced Genetics (hoboken, N.j.), 2023
A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.
Yu S et al.
Oral Diseases, 2022
Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.
Paprocka J et al.
Frontiers in Genetics, 2021
34912368 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
ENAM mutations and digenic inheritance.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2019
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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Altered enamelin phosphorylation site causes amelogenesis imperfecta.
Chan HC et al.
Journal of Dental Research, 2010
Evolutionary analysis of mammalian enamelin, the largest enamel protein, supports a crucial role for the 32-kDa peptide and reveals selective adaptation in rodents and primates.
Al-Hashimi N et al.
Journal of Molecular Evolution, 2009
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.
Pavlic A et al.
Archives of Oral Biology, 2007
Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations.
Lindemeyer RG et al.
Pediatric Dentistry, 0
Select a paper to view details