Results 21 to 30 of about 4,008 (210)

Dentinogénesis imperfecta tipo II: Reporte de un caso

Revista de Odontopediatria Latinoamericana, 2021
La Dentinogénesis Imperfecta es un desorden genético de carácter hereditario autosómico dominante, que se caracteriza por defectos en la dentina de ambas denticiones.
Magdalena San Martín, Leonie Lamothe, Paula Drexler, Raúl Casamayou   +3 more
doaj   +1 more source

Dental management of a child with a rare bone disorder: a case report with a six-year follow up

RGO: Revista Gaúcha de Odontologia, 2020
Osteogenesis imperfecta is a rare genetic disorder involving abnormal type I collagen composition that compromises bone and collagen-rich tissues. Individuals with Osteogenesis imperfecta exhibit oral and systemic abnormalities, including dentinogenesis ...
Suélen Alves TEIXEIRA, Mariana Oliveira GUIMARÃES, Natália Mendes De Matos CARDOSO, Raiane Machado MAIA, Natália Cristina Ruy CARNEIRO, Ana Cristina BORGES-OLIVEIRA   +5 more
doaj   +1 more source

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

JCRPE, 2022
Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis ...
Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu   +3 more
doaj   +1 more source

A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients [PDF]

, 2015
Osteogenesis imperfecta (OI) is a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. Their typical oral and craneofacial characteristics (Dentinogenesis imperfecta type I and class III malocclusion),
de Nova García, Joaquín, Feijóo, Gonzalo, Garcilazo, Mario, Gutiérrez Díez, María Pilar, Mourelle Martínez, Mª Rosa, Ortega Aranegui, Ricardo, Ríos Rodenas, Mercedes   +6 more
core   +4 more sources

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

A novel DSPPmutation is associated with type II dentinogenesis Imperfecta in a chinese family [PDF]

, 2007
Background Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD) (types I and II) and dentinogenesis imperfecta (DGI) (types I, II, and III).
Xianqin Zhang, Lanying Chen, Jingyu Liu, Zhen Zhao, Erjun Qu, Xiaotao Wang, Wei Chang, Chengqi Xu, Qing K Wang, Mugen Liu, ED Shields, CJ Witkop, CJ Witkop Jr, M MacDougall, HH Ritchie, Michael L Paine, M MacDougall, Y Yamakoshi, Y Yamakoshi, X Zhang, S Xiao, J-W Kim, B Malmgren, H Holappa, Y Song, Jung-Wook Kim, MH Rajpar, J Dong, T Sreenath   +28 more
core   +2 more sources

Nonsyndromic dentin genetic diseases: Dentinogenesis imperfecta Type III: A unique presentation of rhizomegaly, taurodontism, and dilacerated roots

Saudi Journal of Oral Sciences, 2021
Genetic disorders of the dentin are known for several years, and reviews have been published mainly in the form of case reports. Dentinogenesis imperfecta (DI) is a disease characterized by an abnormal formation and abnormal structure of the dentin ...
Vela D Desai, Rajeev Chitguppi
doaj   +1 more source

Genetic aspects of dental disorders [PDF]

, 1998
The document attached has been archived with permission from the Australian Dental Association. An external link to the publisher’s copy is included.This paper reviews past and present applications of quantitative and molecular genetics to dental ...
Aldred MJ, Arte S., Barnett ML., Bartold PM., Baum BJ, Beaty TH, Blackwell CC, Boraas JC, Boughman JA, Boughman JA, Boughman JA, Brown T., Byers PH, Cawson RA., Cheverud JM, Chung C., Chung CS, Chung CS, Chung CS, Conneally PM, Crall MG, Crosby AH, Crowley CA, Delgado WA, Dempsey PJ, Deutsch D., DeVries RR, Elston RC., Finn SB., Fisher RA., Gedda L., George A., Goodman HO, Gorlin RJ, Hart TC., Hassell TM, Hattab FN, Houwink B., Hunt HR, Hunt HR, Hunter WS., Kaslick RS, Katz J., King L., Kirstilia V., Lagerstrom M., Laine T., Lauweryns I., Lauweryns I., Leknes KN, Lundstrom A., MacDougall M., Marazita ML, Marazita ML, Markovic MD., Michalewicz BS., Michalowicz BS, Moller E., Moss ML., Peltomaki T., Potter RH., Potter RH., Proffit WR., Reinholdt J., Roulsten D., Shapira L., Slavkin HC., Smith RJ, Takashiba S., Townsend GC, Townsend GC, Townsend GC, Townsend GC, Towsend G., Varrela J., White R., Whitney C., Willett NP, Wynne SE, Zambon JJ, Zambon JJ   +80 more
core   +1 more source

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation [PDF]

, 2009
: Background: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein.
Coucke, Paul, De Paepe, Anne, Gevaert, Kris, Kayserili, H., Leroy, J. G., Malfait, Fransiska, Megarbane, A., Mortier, Geert, Symoens, Sofie, Willaert, Andy   +9 more
core   +2 more sources