Results 101 to 110 of about 35,518 (257)

Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes

, 2021
Rashmi Rao, David Cuthbertson, Sandesh C.S. Nagamani, V. Reid Sutton, Brendan Lee, Jeffrey P. Krischer, Deborah Krakow   +6 more
openalex   +2 more sources

Dentinogenesis imperfecta: A case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Dentinogenesis imperfecta is an autosomal dominant disorder of tooth development characterized by the presence of opalescent dentin, resulting in a dusky blue to brownish discoloration of the teeth.
Subramaniam P, Mathew S, Sugnani S
doaj  

Intramedullary Nailing of Deformity and Fracture in a Patient with Osteogenesis Imperfecta

Haseki Tıp Bülteni, 2014
Osteogenesis imperfecta is a hereditary disorder characterized by increased bone fragility. The production of type I collagen and endochondral bone development are disturbed.
Hasan Göçer, Serdar Ulusoy, Alper Çıraklı, İbrahim Kaya, Nevzat Dabak   +4 more
doaj   +1 more source

Bone mineral content and density in healthy subjects and in osteogenesis imperfecta. [PDF]

, 1994
M.W.J. Davie, M.J. Haddaway
openalex   +1 more source

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta [PDF]

, 2016
BackgroundThe genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin.
Binh, Ho Duy, Kandla, Ivo, Koks, Sulev, Maasalu, Katre, Martson, Aare, Prans, Ele, Reimann, Ene, Zhytnik, Lidiia   +7 more
core   +1 more source

Custom hemiarthroplasties for retention of existing hardware associated with osteogenesis imperfecta

Arthroplasty Today, 2017
Osteogenesis imperfecta is a rare genetic disorder that presents with heterogeneous phenotypes ranging from brittle bones to impaired hearing. Because of the decreased bone mineral density frequently observed in this patient population, many patients ...
Kevin Nishida, MS, Daniel Choi, MEng, Mathias Bostrom, MD   +2 more
doaj   +1 more source

Hierarchical nanomechanics of collagen microfibrils [PDF]

, 2010
Collagen constitutes one third of the human proteome, providing mechanical stability, elasticity and strength to connective tissues. Collagen is also the dominating material in the extracellular matrix (ECM) and is thus crucial for cell differentiation ...
Alberto Redaelli, Alfonso Gautieri, Markus J. Buehler, Simone Vesentini   +3 more
core   +2 more sources

Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unravelling a complex cellular defect. [PDF]

, 2017
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone material phenotype description and osteoblast differentiation studies.
Alsaedi, A., Balasubramanian, M., Cabral, W.A., Cole, T., Crabtree, N.J., Fratzl-Zelman, N., Gamsjaeger, S., Högler, W., Klaushofer, K., Marini, J.C., Paschalis, E.P., Roschger, P., Saraff, V., Sargent, B.M., Shaw, N.J., Stewart, S., Titheradge, H., Vogt, J., Webb, E.A.   +18 more
core   +2 more sources

Estapedotomia em doente com osteogenesis imperfecta

Revista Portuguesa Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, 2013
A osteogenesis imperfecta é uma doença do tecido conjuntivo, caracterizada por fragilidade óssea, esclerótica azul e hipoacusia. Audiogramas realizados no pré-operatório e no pós-operatório foram comparados para avaliar o impacto da estapedotomia no ...
Sérgio Caselhos, Rafaela Veloso Teles, Roberto Estevão, Alexandre Mexedo, Fausto Fernandes   +4 more
doaj   +1 more source

Osteogenesis Imperfecta [PDF]

Archives of Disease in Childhood, 1956
J G, DAVEL, T, FICHARDT, D, VAN DER SPUY
openaire   +2 more sources