Literature DB >> 22538897

Amelogenesis imperfecta: an introduction.

K Gadhia1, S McDonald, N Arkutu, K Malik.   

Abstract

Amelogenesis imperfecta (AI) is an inherited disorder that is associated with mutations in five genes (AMEL; ENAM; MMP20; KLK4 and FAM83H) with a wide range of clinical presentations (phenotypes). It affects the structure and appearance of enamel of all teeth, both in the primary and secondary dentition. In this review paper, we look at the epidemiology, classification, aetiology, clinical description and diagnosis of AI. In the following three papers of this series, we aim to describe the role of paediatric dentists, orthodontists and restorative dentists in the clinical management of patients with AI.

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Year:  2012        PMID： 22538897     DOI： 10.1038/sj.bdj.2012.314

Source DB:  PubMed          Journal:  Br Dent J        ISSN： 0007-0610            Impact factor:   1.626


  23 in total

1.  32 and you - genetic testing for dental disorders.

Authors:  M Harrison; C-J Bushell; M Irving
Journal:  Br Dent J       Date:  2018-05-25       Impact factor: 1.626

Review 2.  DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.

Authors:  Rodrigo S Lacruz; Stefan Habelitz; J Timothy Wright; Michael L Paine
Journal:  Physiol Rev       Date:  2017-07-01       Impact factor: 37.312

3.  A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.

Authors:  Mathilde Huckert; Helen Mecili; Virginie Laugel-Haushalter; Corinne Stoetzel; Jean Muller; Elisabeth Flori; Vincent Laugel; Marie-Cécile Manière; Hélène Dollfus; Agnès Bloch-Zupan
Journal:  Mol Syndromol       Date:  2014-09-11

4.  A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.

Authors:  A Kuechler; J Hentschel; I Kurth; B Stephan; E-C Prott; B Schweiger; A Schuster; D Wieczorek; H-J Lüdecke
Journal:  Mol Syndromol       Date:  2012-10-19

5.  Patient-reported outcome measure for children and young people with amelogenesis imperfecta.

Authors:  Alexandra Lyne; Susan Parekh; Nikita Patel; Fiona Lafferty; Catriona Brown; Helen Rodd; Joana Monteiro
Journal:  Br Dent J       Date:  2021-09-06       Impact factor: 1.626

6.  A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome.

Authors:  Xiao Li; Shankar R Venugopalan; Huojun Cao; Flavia O Pinho; Michael L Paine; Malcolm L Snead; Elena V Semina; Brad A Amendt
Journal:  Hum Mol Genet       Date:  2013-08-23       Impact factor: 6.150

7.  The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta.

Authors:  Hyejin Choi; Kwanghwan Lee; Donghyo Kim; Sanguk Kim; Jae Hoon Lee
Journal:  Clin Oral Investig       Date:  2022-03-03       Impact factor: 3.606

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

Authors:  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
Journal:  Iran J Public Health       Date:  2014-12       Impact factor: 1.429

9.  The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.

Authors:  Yingchun Zheng; Ting Lu; Jianfan Chen; Meiyi Li; Jun Xiong; Fei He; Zhongzhi Gan; Yingying Guo; Leitao Zhang; Fu Xiong
Journal:  Clin Oral Investig       Date:  2020-10-02       Impact factor: 3.573

10.  Management of Amelogenesis Imperfecta in Childhood: Two Case Reports.

Authors:  Mirja Möhn; Julia Camilla Bulski; Norbert Krämer; Alexander Rahman; Nelly Schulz-Weidner
Journal:  Int J Environ Res Public Health       Date:  2021-07-05       Impact factor: 3.390
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