Associated Papers
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort.
Modafferi C et al.
European Journal of Human Genetics : Ejhg, 2024
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.
de Oliveira-Sobrinho RP et al.
Genes, 2024
Identification of a novel PTH1R variant in a family with primary failure of eruption.
Zha Y et al.
Bmc Oral Health, 2023
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Validating clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants.
Grippaudo C et al.
Progress in Orthodontics, 2021
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.
Roth H et al.
Clinical Oral Investigations, 2014
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Lonie L et al.
Human Mutation, 2006
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0
Select a paper to view details