Target gene analyses of 39 amelogenesis imperfecta kindreds

A novel mutation in the AMELX gene and multiple crown resorptions

(2012) Kyung-Eun Lee et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

(2011) James O'Sullivan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

(2011) J. Timothy Wright et al.   CELLS TISSUES ORGANS

Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth

(2011) W. El-Sayed et al.   CELLS TISSUES ORGANS

Why Does Enamel in Klk4-Null Mice Break above the Dentino-Enamel Junction?

(2011) James P. Simmer et al.   CELLS TISSUES ORGANS

Effect of Kallikrein 4 Loss on Enamel Mineralization

(2011) Charles E. Smith et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Amelogenesis Imperfecta and Nephrocalcinosis Syndrome: A Case Report and Review of the Literature

(2011) Hercílio Martelli-Júnior et al.   NEPHRON PHYSIOLOGY

Histological and immunohistochemical analyses of molar tooth germ in enamelin-deficient mouse

(2010) Takashi Sawada et al.   ACTA HISTOCHEMICA

Novel WDR72 Mutation and Cytoplasmic Localization

(2010) S.-K. Lee et al.   JOURNAL OF DENTAL RESEARCH

Altered Enamelin Phosphorylation Site Causes Amelogenesis Imperfecta

(2010) H.-C. Chan et al.   JOURNAL OF DENTAL RESEARCH

Regulation of Dental Enamel Shape and Hardness

(2010) J.P. Simmer et al.   JOURNAL OF DENTAL RESEARCH

The Enamelin Genes in Lizard, Crocodile, and Frog and the Pseudogene in the Chicken Provide New Insights on Enamelin Evolution in Tetrapods

(2010) N. Al-Hashimi et al.   MOLECULAR BIOLOGY AND EVOLUTION

Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales

(2010) R. W. Meredith et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

(2009) Walid El-Sayed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)

(2009) Grace M. Hobson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expression patterns of the Fam83h gene during murine tooth development

(2009) Min-Jung Lee et al.   ARCHIVES OF ORAL BIOLOGY

Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation

(2009) W. El-Sayed et al.   CELLS TISSUES ORGANS

NovelFAM83Hmutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta

(2009)   CLINICAL GENETICS

Oral Manifestations in the Epidermolysis Bullosa Spectrum

(2009) J. Timothy Wright   DERMATOLOGIC CLINICS

Identification of a novelFAM83Hmutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta

(2009) H.-K. Hyun et al.   INTERNATIONAL ENDODONTIC JOURNAL

Loss of teeth and enamel in tetrapods: fossil record, genetic data and morphological adaptations

(2009) Tiphaine Davit-Béal et al.   JOURNAL OF ANATOMY

Hypomaturation Enamel Defects inKlk4Knockout/LacZKnockin Mice

(2009) James P. Simmer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enamel Proteases Reduce Amelogenin-Apatite Binding

(2009) Z. Sun et al.   JOURNAL OF DENTAL RESEARCH

Premature Stop Codon in MMP20 Causing Amelogenesis Imperfecta

(2009) P. Papagerakis et al.   JOURNAL OF DENTAL RESEARCH

MMP20 Hemopexin Domain Mutation in Amelogenesis Imperfecta

(2009) S.-K. Lee et al.   JOURNAL OF DENTAL RESEARCH

Candidate Gene Strategy Reveals ENAM Mutations

(2009) H.-Y. Kang et al.   JOURNAL OF DENTAL RESEARCH

Fam83h is Associated with Intracellular Vesicles and ADHCAI

(2009) Y. Ding et al.   JOURNAL OF DENTAL RESEARCH

Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta

(2009) J.T. Wright et al.   JOURNAL OF DENTAL RESEARCH

The Relationship of Amelogenesis Imperfecta and Nephrocalcinosis Syndrome

(2009) Z. Kirzioglu et al.   Medicina Oral Patologia Oral y Cirugia Bucal

Molecular Decay of the Tooth Gene Enamelin (ENAM) Mirrors the Loss of Enamel in the Fossil Record of Placental Mammals

(2009) Robert W. Meredith et al.   PLoS Genetics

FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta

(2008) Jung-Wook Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functions of KLK4 and MMP-20 in dental enamel formation

(2008) Yuhe Lu et al.   BIOLOGICAL CHEMISTRY

Hen's teeth with enamel cap: from dream to impossibility

(2008) Jean-Yves Sire et al.   BMC EVOLUTIONARY BIOLOGY

Autosomal dominant junctional epidermolysis bullosa

(2008) N. Almaani et al.   BRITISH JOURNAL OF DERMATOLOGY

Mutational spectrum ofFAM83H: the C-terminal portion is required for tooth enamel calcification

(2008) Sook-Kyung Lee et al.   HUMAN MUTATION

Enamel Defects and Ameloblast-specific Expression inEnamKnock-out/lacZKnock-in Mice

(2008) Jan C.-C. Hu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY