[Molecular mechanisms of familial rachitis]

Cortical bone material / compositional properties in growing children and young adults aged 1.5-23 years, as a function of gender, age, metabolic activity, and growth spurt.

Bone·2022

Genotype and malocclusion in patients with osteogenesis imperfecta.

Orthodontics & craniofacial research·2018

Long-term follow-up in osteogenesis imperfecta type VI.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2017

Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2017

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2016

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.

Genetics in medicine : official journal of the American College of Medical Genetics·2015

Clinical and molecular characterization of 5α-reductase deficiency type 2: First report of a family with homozygous deletion in exon 1 of SRD5A2.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2026