Mathilde Doyard - Publications

Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Journal: Haematologica

Published: October 27, 2023

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: November 14, 2019

Iron excess upregulates SPNS2 mRNA levels but reduces sphingosine-1-phosphate export in human osteoblastic MG-63 cells.

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

Published: February 10, 2018

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Journal: Journal of medical genetics

Published: August 24, 2017

Ghosal Type Hematodiaphyseal Dysplasia.

Journal: Indian pediatrics

Published: May 10, 2016

Decreased Bone Formation Explains Osteoporosis in a Genetic Mouse Model of Hemochromatosiss.

Journal: PloS one

Published: October 07, 2015

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Journal: Human mutation

Published: July 30, 2014

Iron excess limits HHIPL-2 gene expression and decreases osteoblastic activity in human MG-63 cells.

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

Published: November 10, 2011