Results 101 to 110 of about 6,417 (245)

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations [PDF]

, 2015
Background: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular
A Linde, A Rejjal, AE Kan, Alan J Mighell, Ana Carolina Acevedo, AX Acosta, C Chaussain-Miller, C Gaucher, Caroline Lourenço de Lima, Chris F Inglehearn, Claire E L Smith, Clare V Logan, CM Giachelli, Colin A Johnson, D Chitayat, D Nalbant, David A Parry, E Katchburian, FK Ababneh, G Hulskamp, G Jaureguiberry, GS Kochar, HM Kingston, HO Ishikawa, J Dong, J Hao, J Raine, James A Poulter, K Al-Mane, KA Al Mane, L Ye, LI Al-Gazali, Lilian M Paula, Luiz Claudio Castro, LW Fisher, M Dure-Molla de la, M Fradin, M Koob, MA DePristo, MA Simpson, MA Simpson, P Vogel, Paulo Marcio Yamaguti, PJ Patel, Priscila Gomes Alves, PS Hart, S Takeyari, SA Shalev, SH Rafaelsen, SK Wang, SK Wang, SM Hebsgaard, T Gunes, T Mahafza, T Sreenath, V Faundes, VS Tagliabracci, X Wang, X Wang, X Wang, X Wang, Y Kinoshita   +61 more
core   +2 more sources

Amelogenin x linked chromosome [PDF]

, 2017
The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of ...
Gupta, Bhawani
core   +2 more sources

Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.

Iranian Journal of Public Health, 2014
Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and
S Jalal Pourhashemi, Mehdi Ghandehari Motlagh, Ghasem Meighani, Azadeh Ebrahimi Takaloo, Mahsa Mansouri, Fatemeh Mohandes, Maryam Mirzaii, Ahad Khoshzaban, Faranak Moshtaghi, Hoda Abedkhojasteh, Mansour Heidari   +10 more
doaj  

Genes involucrados en la Amelogénesis Imperfecta. Parte I

Revista Facultad de Odontología Universidad de Antioquia, 2018
Amelogenesis imperfecta (AI) refers to a group of genetic alterations of the normal structure of the dental enamel that disturbs its clinical appearance. AI is classified as hypoplastic, hypocalcified, and hypomaturation. These abnormalities may exist in
Víctor Hugo Simancas-Escorcia
doaj   +1 more source

Amelogénesis imperfecta. Caso clínico: etapas de tratamiento en dentición mixta, permanente y su rehabilitación. Parte II Amelogenesis imperfecta. Clinical case: treatment stages in mixed, permanent dentition, and its rehabilitation. Part II

Revista de la Asociación Odontológica Argentina, 2012
Resumen Objetivos: La Amelogénesis imperfecta es una anomalía poco frecuente, heterogénea y hereditaria. El tejido particularmente afectado es el esmalte, con diferentes grados y formas de alteración; afecta tanto la salud bucal en general como el ...
María Tenenbaun Batkis, Susana M. Falbo, Marcela Siri, Ariela Borjas, Susana M. Falbo, Marcela Siri, Ariela Borjas   +3 more
doaj  

Hypoplastic amelogenesis imperfecta: report of two family cases

Revista Cubana de Estomatología, 2020
Introduction: Dental surgeons are confronted every day with several cases that require accuracy in the initial diagnosis and attention to the treatment that will be proposed.
Moan Jéfter Fernandes Costa, Basilio Rodrigues Vieira, Antonia Bárbara Leite Lima, Ana Carolina Lyra de Albuquerque, Keila Martha Amorim Barroso, George João Ferreira do Nascimento, Cyntia Helena Pereira de Carvalho   +6 more
doaj  

Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 [PDF]

, 2015
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities and occasional or late onset retinal pigmentation.
Abdelaziz Sefiani, Acharya, Alan Fryer, Alan J. Mighell, Aleksandr A. Mironov, Ashburner, Aubourg, Audrey Heimler, Bader, Braverman, Christopher F. Inglehearn, Cingolani, Claire Elcock, Claire E.L. Smith, Collins, Dacremont, Dacremont, Dursun, Ebberink, Ebberink, Ebberink, Fujiki, Geert Vandeweyer, Gootjes, Graeme C. Black, Guy Van Camp, Hans R. Waterham, Heimler, Hind Ramdi, Ilham Ratbi, Imamura, James A. Poulter, Jill E. Urquhart, Kai Ren Ong, Kate E. Chandler, Kim D. Falkenberg, Kocarnik, Li, Lima, Liu, Majewski, Manou Sommen, Marc Tischkowitz, Maxwell, McKenna, Miller, Mustapha El Alloussi, Nada Al-Sheqaih, Neil A. Roberts, Nicola Cooper, Ofman, Ong, Poll-The, Poll-The, Pollak, Raas-Rothschild, Régal, Sacha Ferdinandusse, Sally-Ann Lynch, Sally J. Davies, Simon G. Williams, Soukaina Guaoua, Steinberg, Tamura, Tischkowitz, Tran, van Grunsven, Vreken, Wanders, Wanders, Wanders, Waterham, Waterham, William G. Newman, Yik, Zeharia   +75 more
core   +2 more sources

How do children with amelogenesis imperfecta feel about their teeth? [PDF]

, 2014
Amelogenesis imperfecta (AI) is an inherited dental condition affecting enamel, which can result in significant tooth discolouration and enamel breakdown, requiring lifelong dental care.
Almehateb, M, Cunningham, SJ, Parekh, S
core  

Amelogénesis imperfecta. Caso clínico. Tratamiento ortodóncico interceptivo Amelogenesis imperfecta. Clinical case. Interceptive orthodontic treatment

Revista de la Asociación Odontológica Argentina, 2011
Resumen La amelogénesis imperfecta (AI) es una anomalía de origen genómico que altera en diferente grado la estructura del esmalte produciendo problemas de autoestima, deterioro de la salud bucal en general y la consecuente disminución de la calidad ...
María Tenenbaum Batkis, Susana M. Falbo, Marcela Siri   +2 more
doaj  

Total rehabilitation in case of amelogenesis imperfecta

SWISS DENTAL JOURNAL SSO – Science and Clinical Topics
The aim of the treatment of this case was to restore the form, function and aesthetics of all teeth in a patient with amelogenesis imperfecta within the age limit of the disability insurance (IV). Single-tooth zirconia crowns were selected as the treatment of choice and cemented with a conventional glass ionomer cement.
Rita, Bücheli-Kamber, Hendrik, Meyer-Lückel, Thomas, Jaeggi   +2 more
openaire   +2 more sources