Associated Papers
Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series.
Mohammadi Zaniani Z et al.
Laboratory Medicine, 2024
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.
Rouleau C et al.
Bone Reports, 2022
Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.
Martínez-Gil N et al.
Jbmr Plus, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A.
Caetano da Silva C et al.
Molecular Genetics & Genomic Medicine, 2021
Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.
Martínez-Gil N et al.
Jbmr Plus, 2020
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
Chiari malformation type I: what information from the genetics?
Capra V et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.
Martínez-Gil N et al.
Scientific Reports, 2018
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.
Merello E et al.
European Journal of Human Genetics : Ejhg, 2017
Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.
van de Putte R et al.
European Journal of Pediatrics, 2015
WNT3A gene polymorphisms are associated with bone mineral density variation in postmenopausal mestizo women of an urban Mexican population: findings of a pathway-based high-density single nucleotide screening.
Velázquez-Cruz R et al.
Age (dordrecht, Netherlands), 2014
Genetic association study of Dickkopf-1 and sclerostin genes with paget disease of bone.
Beauregard M et al.
Calcified Tissue International, 2013
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.
Korvala J et al.
European Journal of Medical Genetics, 2012
The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.
Roessler E et al.
Cytogenetics and Cell Genetics, 2000