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Marie-Eve Robinson

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Articles 36
Citations 200
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Recent Articles
1.
Ramji N, Robinson M, Moore G
J Law Med Ethics . 2024 Oct; 52(2):459-466. PMID: 39435937
When skeletal dysplasias are suspected in the prenatal period, investigation, counseling, and management become especially challenging. By better understanding the complex forces at play and parental values, prenatal health care...
2.
Haridas R, Baxter C, Dover S, Goldbloom E, Terekhov I, Robinson M
Children (Basel) . 2024 Jun; 11(6). PMID: 38929306
(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity...
3.
Cho H, Shepherd W, Colombo G, Wiese A, Rork W, Kostick K, et al.
Disabil Rehabil . 2024 Jun; 47(3):709-718. PMID: 38841844
Purpose: The aim of this qualitative study was to investigate resilience among adults with Osteogenesis Imperfecta (OI). Materials And Methods: Semi-structured interviews were conducted with 15 adults with OI. Transcripts...
4.
Stojanova A, Harrison M, Mitsakakis N, Thawer Z, Kirolos N, Stevens L, et al.
J Pediatr Endocrinol Metab . 2024 Apr; 37(5):462-466. PMID: 38630246
Objectives: Prevalence of diabetes distress and mental health comorbidities among adolescents with type 1 diabetes (T1D) is high. Despite recommendations for routine psychosocial risk assessment, there is little guidance for...
5.
Shepherd W, Wiese A, Cho H, Rork W, Baig M, Kostick K, et al.
J Clin Psychol Med Settings . 2024 Jan; 31(3):614-627. PMID: 38281305
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures, short stature, dental abnormalities, hearing loss, scoliosis, and chronic pain. Despite a growing literature on the functional...
6.
Abebe L, Phung K, Robinson M, Waldner R, Carsen S, Smit K, et al.
Bone Rep . 2024 Jan; 20:101725. PMID: 38229908
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare bone disorder featuring fibroblast growth factor-23 (FGF23)-mediated hypophosphatemic rickets. We report a 2-year, 10-month-old girl with CSHS treated with burosumab, a novel human...
7.
Grover M, Ashraf A, Bowden S, Calabria A, Diaz-Thomas A, Krishnan S, et al.
Horm Res Paediatr . 2024 Jan; 98(1):40-50. PMID: 38211570
Metabolic bone disease of prematurity (MBDP) is defined by undermineralization of the preterm infant skeleton arising from inadequate prenatal and postnatal calcium (Ca) and phosphate (PO4) accretion. Severe MBDP can...
8.
Dover S, Ahmet A, Bluth K, Feldman B, Goldbloom E, Goldfield G, et al.
JMIR Res Protoc . 2023 Dec; 12:e53935. PMID: 38048480
Background: Adolescents living with type 1 diabetes (T1D) often experience diabetes distress (DD), a construct distinct from depression or anxiety that refers to the negative emotions that arise from living...
9.
Phung K, McAdam L, Ma J, McMillan H, Jackowski S, Scharke M, et al.
J Clin Endocrinol Metab . 2023 Aug; 109(2):536-548. PMID: 37610420
Purpose: Prevention of fractures is an unmet need in glucocorticoid (GC)-treated Duchenne muscular dystrophy. This study explored factors associated with incident vertebral fractures (VFs) to inform future fracture prevention efforts....
10.
Ochoa M, Jurencak R, Smit K, Carsen S, Sawyer S, Robinson M, et al.
Bone Rep . 2023 Jul; 19:101695. PMID: 37520934
We describe the clinical evolution of a patient with tumoral calcinosis due to a pathogenic variant in the gene presented with a large mass overlying her left hip associated complicated...