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1997 3
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1999 3
2000 3
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109 results

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Page 1
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L. Maioli M, et al. Eur J Hum Genet. 2019 Jul;27(7):1090-1100. doi: 10.1038/s41431-019-0373-x. Epub 2019 Mar 18. Eur J Hum Genet. 2019. PMID: 30886339 Free PMC article. Clinical Trial.
Compared with previous genotype-phenotype OI correlation studies, additional observations arose: a new effect for alpha1- and alpha2-serine substitutions has been pointed out and heart defects, never considered before, resulted associated to quantitative mutations (P = 0.0 …
Compared with previous genotype-phenotype OI correlation studies, additional observations arose: a new effect for alpha1- and alpha2- …
A Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.
Mack Wilson J, Bell C, Queck K, Scott K. Mack Wilson J, et al. J Vet Dent. 2022 Dec;39(4):376-390. doi: 10.1177/08987564221123419. Epub 2022 Sep 15. J Vet Dent. 2022. PMID: 36113440 Review.
This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of concurrent osteogenesis imperfecta. ...Histologically, permanent and deciduous teeth examined showe …
This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two …
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC. Yamaguti PM, et al. J Dent Res. 2023 Jun;102(6):616-625. doi: 10.1177/00220345231154569. Epub 2023 Mar 23. J Dent Res. 2023. PMID: 36951356
Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. ...In addition, we showed that 1) glycine substitution by branched and charged amino acids in the alpha2(I …
Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 …
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
de La Dure-Molla M, Philippe Fournier B, Berdal A. de La Dure-Molla M, et al. Eur J Hum Genet. 2015 Apr;23(4):445-51. doi: 10.1038/ejhg.2014.159. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118030 Free PMC article. Review.
Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. ...Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type …
Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered de …
Osteogenesis imperfecta.
Huber MA. Huber MA. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Mar;103(3):314-20. doi: 10.1016/j.tripleo.2006.10.003. Epub 2007 Jan 12. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007. PMID: 17223585
The phenotypic presentation varies from mild to lethal. Commonly observed dental abnormalities include dentinogenesis imperfecta and malocclusion. ...
The phenotypic presentation varies from mild to lethal. Commonly observed dental abnormalities include dentinogenesis imper …
Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations.
Nutchoey O, Intarak N, Theerapanon T, Thaweesapphithak S, Boonprakong L, Srijunbarl A, Porntaveetus T, Shotelersuk V. Nutchoey O, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021 Jun;131(6):694-701. doi: 10.1016/j.oooo.2021.01.003. Epub 2021 Jan 9. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021. PMID: 33737018
OBJECTIVE: Dentinogenesis imperfecta (DI) requires dental treatment. This study investigated the characteristics of DI teeth associated with osteogenesis imperfecta (OI) and COL1A2 mutations. ...Numerous ectopic calcified masses, sparse and obstructed dentinal tubul …
OBJECTIVE: Dentinogenesis imperfecta (DI) requires dental treatment. This study investigated the characteristics of DI teeth a …
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.
Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A. Fratzl-Zelman N, et al. Eur J Med Genet. 2023 Nov;66(11):104856. doi: 10.1016/j.ejmg.2023.104856. Epub 2023 Sep 25. Eur J Med Genet. 2023. PMID: 37758163 Free article.
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozyg …
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had ric …
Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta.
Ibrahim S, Strange AP, Aguayo S, Shinawi A, Harith N, Mohamed-Ibrahim N, Siddiqui S, Parekh S, Bozec L. Ibrahim S, et al. Int J Nanomedicine. 2019 Dec 2;14:9423-9435. doi: 10.2147/IJN.S217420. eCollection 2019. Int J Nanomedicine. 2019. PMID: 31819441 Free PMC article.
INTRODUCTION: Dentinogenesis imperfecta type 1 (OIDI) is considered a relatively rare genetic disorder (1:5000 to 1:45,000) associated with osteogenesis imperfecta. ...Structural markers for OIDI at the mesoscale and nanoscale were found and correlated with an ob …
INTRODUCTION: Dentinogenesis imperfecta type 1 (OIDI) is considered a relatively rare genetic disorder (1:5000 to 1:45,000) as …
The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC. Simmer JP, et al. Genes (Basel). 2022 May 12;13(5):858. doi: 10.3390/genes13050858. Genes (Basel). 2022. PMID: 35627243 Free PMC article.
Mutations in Dentin Sialophosphoprotein (DSPP) are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), dentinogenesis imperfecta type-II (DGI-II), and dentinogenesis imperfecta type-III (DGI-III). ...After reviewing the l …
Mutations in Dentin Sialophosphoprotein (DSPP) are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), den …
CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN.
Brizola E, Zambrano MB, Pinheiro BS, Vanz AP, Félix TM. Brizola E, et al. Rev Paul Pediatr. 2017 Apr-Jun;35(2):171-177. doi: 10.1590/1984-0462/;2017;35;2;00001. Rev Paul Pediatr. 2017. PMID: 28977334 Free PMC article.
Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. ...Individuals' age ranged from 0 to 114 months, with a me …
Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, pos …
109 results