Results 41 to 50 of about 4,451 (219)

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +1 more source

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families [PDF]

, 2011
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90129/1/EOS_874_sm_FigS1-9.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/90129/2/j.1600-0722.2011.00874.x ...
Bai, Barron, Beattie, Begue-Kirn, Bhuvanagiri, Bleyer, Bronckers, Choo, Duffaud, Hart, Holappa, Hon, Hughes, Jonsson, Kawasaki, Kawasaki, Kida, Kim, Kim, Kim, Kutz, Lee, Lee, Lee, Lee, Lee, Malmgren, McKnight, McKnight, Meredith, Nagano, Nanci, Nieminen, Paetzel, Rajpar, Simmer, Song, Song, Sreenath, Sun, Suzuki, Tsuchiya, Tsukumo, Vijayasarathy, Von Marschall, Wang, Wright, Xiao, Yamakoshi, Yamakoshi, Zhang, Zhang   +51 more
core   +1 more source

Prevalence and distribution of selected dental anomalies among saudi children in Abha, Saudi Arabia [PDF]

, 2016
Dental anomalies are not an unusual finding in routine dental examination. The effect of dental anomalies can lead to functional, esthetic and occlusal problems.
Yassin, Syed M.
core   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +4 more sources

Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies. [PDF]

Orthop Surg
This review explores the genetic underpinnings and treatment strategies for spinal deformities in children with osteogenesis imperfecta. Emphasis is placed on emerging molecular insights and modern surgical techniques that improve the management of severe scoliosis and enhance patient outcomes.
Muldiiarov V, Buesing K, Wallace MJ.
europepmc   +2 more sources

A histological continuum between dentinogenesis imperfecta and dentin dysplasia: A case report with literature review

Indian Journal of Dental Research, 2019
Dentinogenesis Imperfecta and dentin dysplasia are genetic oral diseases inherited in a simple autosomal dominant mode, with high penetrance and a low mutation rate.
Nikita Gulati, Saurabh Juneja, Akriti Singh, Iqbal Singh   +3 more
doaj   +1 more source

Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. [PDF]

PLoS ONE, 2012
Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown.
Shih-Kai Wang, Hui-Chen Chan, Igor Makovey, James P Simmer, Jan C-C Hu   +4 more
doaj   +1 more source

The clinical features of osteogenesis imperfecta in Vietnam [PDF]

, 2017
Purpose Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in ...
Bich Ngoc, Can T, Binh, Ho Duy, Dung, Vu Chi, Hung, Ton That, Koks, Sulev, Maasalu, Katre, Martson, Aare, Nam, Tran V, Prans, Ele, Reimann, Ene, Thanh Nhan, Le N, Zhytnik, Lidiia   +11 more
core   +1 more source

Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families. [PDF]

Mol Genet Genomic Med, 2018
Taleb K, Lauridsen E, Daugaard-Jensen J, Nieminen P, Kreiborg S.   +4 more
europepmc   +3 more sources