Associated Papers
Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.
Boonyakanog A et al.
The Japanese Dental Science Review, 2026
The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.
Gilani M et al.
European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry, 2025
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.
Zhang Z et al.
Archives of Oral Biology, 2023
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz D et al.
Molecular Genetics & Genomic Medicine, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Bloch-Zupan A et al.
Frontiers in Physiology, 2016
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
de La Dure-Molla M et al.
European Journal of Human Genetics : Ejhg, 2015
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
Shen H et al.
Plos One, 2013
Hereditary dentine diseases resulting from mutations in DSPP gene.
Maciejewska I et al.
Journal of Dentistry, 2012
Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.
Li D et al.
Genomics, 2012
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.
Wang H et al.
Mutation Research, 2009
Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.
Acevedo AC et al.
Cells, Tissues, Organs, 2009
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
Zhang X et al.
Bmc Medical Genetics, 2007
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.
Holappa H et al.
European Journal of Oral Sciences, 2006
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.
Beattie ML et al.
Journal of Dental Research, 2006
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
Kim JW et al.
Human Genetics, 2005
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
Kim JW et al.
Human Genetics, 2004
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.
Malmgren B et al.
Human Genetics, 2004