Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.
-
Mazzotti A, Artioli E, Brizola E, Moroni A, Tremosini M, Di Cecco A, Gallone S, Faldini C, Sangiorgi L, Gnoli M. Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report. Genes (Basel). 2024 Nov 20; 15(11).
-
Stefko JM, Oommen A, Jones J, Arai L, Dicindio S, Theroux M. Severe Multilevel Tracheal Stenosis with Significant Twisting in a Patient with Spondylometaphyseal Dysplasia: A Case Report. A A Pract. 2024 Mar 01; 18(3):e01759.
-
Ago Y, Rintz E, Musini KS, Ma Z, Tomatsu S. Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy. Int J Mol Sci. 2024 Jan 17; 25(2).
-
Gourgas O, Lemire G, Eaton AL, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM, Bober MB, Boycott KM, Murshed M. Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia. Nat Commun. 2023 Nov 03; 14(1):7054.
-
Merrill RK, Ishmael TG, Samdani AF, Hwang SW, Pahys JM. Severe Cervical Kyphosis and Spondyloptosis with Myelopathy in Larsen Syndrome: A Report of 2 Cases. JBJS Case Connect. 2021 08 04; 11(3).
-
Soares RR, Stem MS, Yonekawa Y. Exudative Retinal Telangiectasia Associated With Leri-Weill Dyschondrosteosis. JAMA Ophthalmol. 2021 08 01; 139(8):914-915.
-
Duker AL, Kinderman D, Jordan C, Niiler T, Baker-Smith CM, Thompson L, Parry DA, Carroll RS, Bober MB. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet J Rare Dis. 2021 05 20; 16(1):231.
-
Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB. Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genet Med. 2021 08; 23(8):1498-1505.
-
Legare JM, Pauli RM, Hecht JT, Bober MB, Smid CJ, Modaff P, Little ME, Rodriguez-Buritica DF, Serna ME, Alade AY, Liu C, Hoover-Fong JE, Hashmi SS. CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus. Am J Med Genet A. 2021 04; 185(4):1168-1174.
-
Farr S, Mart?nez-Alvarez S, Little KJ, Henstenburg J, Ristl R, Stauffer A, Soldado F, Zlotolow DA. The prevalence of Vickers' ligament in Madelung's deformity: a retrospective multicentre study of 75 surgical cases. J Hand Surg Eur Vol. 2021 May; 46(4):384-390.