Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.

[1]  M. Yeganeh,et al.  FAM20A Mutations Associated with Enamel Renal Syndrome , 2014, Journal of dental research.

[2]  D. Schorderet,et al.  Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene , 2013, PloS one.

[3]  A. Bloch-Zupan,et al.  Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta , 2013, Journal of dental research.

[4]  J. Hu,et al.  Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56 , 2013, Clinical genetics.

[5]  F. Seymen,et al.  Novel KLK4 and MMP20 Mutations Discovered by Whole-exome Sequencing , 2013, Journal of dental research.

[6]  F. Seymen,et al.  Amelogenesis Imperfecta in Two Families with Defined AMELX Deletions in ARHGAP6 , 2012, PloS one.

[7]  Z. Bian,et al.  Molecular Characterization of Amelogenesis Imperfecta in Chinese Patients , 2012, Cells Tissues Organs.

[8]  O. Matangkasombut,et al.  Split hand‐split foot‐ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation , 2012, American journal of medical genetics. Part A.

[9]  M. Nyegaard,et al.  Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation. , 2011, International journal of paediatric dentistry.

[10]  Jeffrey C Murray,et al.  Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. , 2011, American journal of human genetics.

[11]  J. Simmer,et al.  FAM83H Mutations Cause ADHCAI and Alter Intracellular Protein Localization , 2011, Journal of dental research.

[12]  C. Inglehearn,et al.  Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth , 2010, Cells Tissues Organs.

[13]  K. Nam,et al.  Novel WDR72 Mutation and Cytoplasmic Localization , 2010, Journal of dental research.

[14]  J. Simmer,et al.  Altered Enamelin Phosphorylation Site Causes Amelogenesis Imperfecta , 2010, Journal of dental research.

[15]  C. Gibson,et al.  Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. , 2010, Pediatric dentistry.

[16]  J. Kirkham,et al.  The Structure and Composition of Deciduous Enamel Affected by Local Hypoplastic Autosomal Dominant Amelogenesis Imperfecta Resulting from an ENAM Mutation , 2009, Cells Tissues Organs.

[17]  H. Hyun,et al.  Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. , 2009, International endodontic journal.

[18]  C. Inglehearn,et al.  Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation , 2009, Cells Tissues Organs.

[19]  T. Hart,et al.  Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta , 2009, Journal of dental research.

[20]  S. Lee,et al.  DLX3 Mutation in a New Family and Its Phenotypic Variations , 2008, Journal of dental research.

[21]  Z. Lee,et al.  FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. , 2008, American journal of human genetics.

[22]  T. Battelino,et al.  Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. , 2007, Archives of oral biology.

[23]  M. Yamauchi,et al.  Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation. , 2006, European journal of oral sciences.

[24]  J-W Kim,et al.  Amelogenin p.M1T and p.W4S Mutations Underlying Hypoplastic X-linked Amelogenesis Imperfecta , 2004, Journal of dental research.

[25]  G. Embery,et al.  Stromelysin-1 (MMP-3) in Forming Enamel and Predentine in Rat Incisor – Coordinated Distribution with Proteoglycans Suggests a Functional Role , 1999, The Histochemical Journal.

[26]  H. Ozawa,et al.  Ca-ATPase and ALPase activities at the initial calcification sites of dentin and enamel in the rat incisor , 2004, Cell and Tissue Research.

[27]  T. Hart,et al.  Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. , 2003, Archives of oral biology.

[28]  M. Snead,et al.  A Tuftelin-interacting Protein (TIP39) Localizes to the Apical Secretory Pole of Mouse Ameloblasts* , 2000, The Journal of Biological Chemistry.

[29]  M. Yamauchi,et al.  Unique Enamel Phenotype Associated with Amelogenin Gene (AMELX) Codon 41 Point Mutation , 2000, Journal of dental research.

[30]  J. Kirkham,et al.  The mineral composition and enamel ultrastructure of hypocalcified amelogenesis imperfecta. , 1993, Journal of craniofacial genetics and developmental biology.