Results 151 to 160 of about 3,804 (207)

[Frameshift mutation in RELT gene causes amelogenesis imperfecta]. [PDF]

Beijing Da Xue Xue Bao Yi Xue Ban
Zhang Z, Xu X, Gao X, Dong Y, Tian H.
europepmc   +1 more source

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta. [PDF]

PLoS Genet
Hytönen MK, Rönkkö J, Hundi S, Jokinen TS, Suonto E, Teräväinen E, Donner J, La Rovere R, Bultynck G, Ylikallio E, Tyynismaa H, Lohi H.   +11 more
europepmc   +1 more source

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. [PDF]

J Dent Res
Hany U, Watson CM, Liu L, Nikolopoulos G, Smith CEL, Poulter JA, Brown CJ, Patel A, Rodd HD, Balmer R, Harfoush A, Al-Jawad M, Inglehearn CF, Mighell AJ.   +13 more
europepmc   +1 more source

Full-mouth rehabilitation with lithium disilicate ceramic crowns in hypoplastic amelogenesis imperfecta: a case report and review of literature. [PDF]

BMC Oral Health
Chen R, Lin Y, Sun Y, Pan X, Xu Y, Kong X, Zhang L.   +6 more
europepmc   +1 more source

Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disability. [PDF]

J Med Genet
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium.   +19 more
europepmc   +1 more source

Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience. [PDF]

Eur Arch Paediatr Dent
Monteiro J, Balmer R, Lafferty F, Lyne A, Mighell A, O'Donnell K, Parekh S.   +6 more
europepmc   +1 more source

Amelogenesis Imperfecta: Case Study

Operative Dentistry, 2017
SUMMARY Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and that are passed down through families as a dominant trait. This condition is characterized by abnormal enamel formation caused by gene mutations that alter the quality and/or quantity of enamel.
C, Leevailoj, S, Lawanrattanakul, K, Mahatumarat   +2 more
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Trichodysplasia and amelogenesis imperfecta

Oral Surgery, Oral Medicine, Oral Pathology, 1993
This paper describes a family in which members of two generations have an X-linked type of enamel dysplasia. All affected persons have symmetric pits in the cuticles of their hair shafts. The observation of these concurrent traits raises questions about the classification of amelogenesis imperfecta and the value of microscopic studies of the hair in ...
G, Angelos, R J, Jorgenson
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Amelogenesis imperfecta with taurodontism

Oral Surgery, Oral Medicine, Oral Pathology, 1979
Reports of families having a combination of amelogenesis imperfecta and taurodontism are limited. This study of members of three families shows that the combination is inherited as an autosomal dominant trait. In each of the patients examined, neither condition was seen without the other.
J, Congleton, E J, Burkes
openaire   +2 more sources