User profiles for Marie-Eve Robinson
Marie-Eve RobinsonChildren's Hospital of Eastern Ontario Verified email at cheo.on.ca Cited by 463 |
Osteogenesis imperfecta: new perspectives from clinical and translational research
Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused
by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or …
by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or …
Mendelian bone fragility disorders
ME Robinson, F Rauch - Bone, 2019 - Elsevier
Mendelian bone fragility disorders are caused by genetic variants that can be inherited in an
autosomal dominant, autosomal recessive or X-linked manner and have a large detrimental …
autosomal dominant, autosomal recessive or X-linked manner and have a large detrimental …
Risk of psychiatric disorders and suicide attempts in emerging adults with diabetes
OBJECTIVE To determine the longitudinal risks of psychiatric disorders in adolescents and
emerging adults with versus without diabetes. RESEARCH DESIGN AND METHODS We …
emerging adults with versus without diabetes. RESEARCH DESIGN AND METHODS We …
Standardized growth charts for children with osteogenesis imperfecta
Background Osteogenesis imperfecta (OI) is associated with short stature, which is mild,
severe and moderate in OI types I, III and IV, respectively. Standardized OI type- and sex-…
severe and moderate in OI types I, III and IV, respectively. Standardized OI type- and sex-…
Mineralized tissues in hypophosphatemic rickets
Hypophosphatemic rickets is caused by renal phosphate wasting that is most commonly
due to X-linked dominant mutations in PHEX. PHEX mutations cause hypophosphatemia …
due to X-linked dominant mutations in PHEX. PHEX mutations cause hypophosphatemia …
Mitigating the denosumab-induced rebound phenomenon with alternating short-and long-acting anti-resorptive therapy in a young boy with severe OI type VI
…, S Carsen, H Sheffield, K Koujok, ME Robinson… - Calcified Tissue …, 2023 - Springer
Osteogenesis imperfecta (OI) type VI, a recessively inherited form of OI caused by mutations
in SERPINF1, is a severe form distinguished by osteomalacia on bone histomorphometry. …
in SERPINF1, is a severe form distinguished by osteomalacia on bone histomorphometry. …
Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant
K Ludwig, LM Ward, N Khan, ME Robinson, V Miranda… - Bone, 2022 - Elsevier
Mutations in SP7 (encoding osterix) have been identified as a rare cause of recessive
osteogenesis imperfecta (‘OI type XII’) and in one case of dominant juvenile Paget's disease. We …
osteogenesis imperfecta (‘OI type XII’) and in one case of dominant juvenile Paget's disease. We …
Risk factors associated with incident vertebral fractures in steroid-treated males with Duchenne muscular dystrophy
…, N Khan, M Page, ME Robinson… - The Journal of …, 2024 - academic.oup.com
Purpose Prevention of fractures is an unmet need in glucocorticoid (GC)-treated Duchenne
muscular dystrophy. This study explored factors associated with incident vertebral fractures (…
muscular dystrophy. This study explored factors associated with incident vertebral fractures (…
Osteoporotic fractures and vertebral body reshaping in children with glucocorticoid-treated rheumatic disorders
Context Osteoporotic fractures are an important cause of morbidity in children with
glucocorticoid-treated rheumatic disorders. Objective This work aims to evaluate the incidence and …
glucocorticoid-treated rheumatic disorders. Objective This work aims to evaluate the incidence and …
Increasing prevalence of diabetic ketoacidosis at diabetes diagnosis among children in Quebec: a population-based retrospective cohort study
… Contributors: Marie-Eve Robinson contributed to the study conception and design, oversaw
… Marie-Eve Robinson drafted the initial manuscript and all other authors critically revised it …
… Marie-Eve Robinson drafted the initial manuscript and all other authors critically revised it …