Mutational analysis of candidate genes in 24 amelogenesis imperfecta families (Q83287337)

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20 January 2020

title

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families (English)

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20 January 2020

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amelogenesis imperfecta

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20 January 2020

Jung-Wook Kim

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20 January 2020

James P Simmer

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20 January 2020

Brent P-L Lin

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20 January 2020

Figen Seymen

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20 January 2020

Jan C-C Hu

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20 January 2020

publication date

1 May 2006

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European Journal of Oral Sciences

20 January 2020

published in

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20 January 2020

volume

114 Suppl 1

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20 January 2020

page(s)

3-12; discussion 39-41, 379

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Sex determination of forensic samples by dual PCR amplification of an X-Y homologous gene

20 January 2020

cites work

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Rare failures in the amelogenin sex test

21 January 2018

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A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome

21 January 2018

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A nomenclature for X-linked amelogenesis imperfecta

21 January 2018

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A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

21 January 2018

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Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta

21 January 2018

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Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)

21 January 2018

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Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)

21 January 2018

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An amelogenin gene defect associated with human X-linked amelogenesis imperfecta

21 January 2018

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Mutational analysis of X-linked amelogenesis imperfecta in multiple families

21 January 2018

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Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations

21 January 2018

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A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta

21 January 2018

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Full-length sequence, localization, and chromosomal mapping of ameloblastin. A novel tooth-specific gene

21 January 2018

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Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21

21 January 2018

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Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21.

21 January 2018

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Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

21 January 2018

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Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

21 January 2018

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Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

21 January 2018

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A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

21 January 2018

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Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q

21 January 2018

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Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta

21 January 2018

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Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts

21 January 2018

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Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21

21 January 2018

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Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

21 January 2018

1 reference

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DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

21 January 2018

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Molecular cloning and mRNA tissue distribution of a novel matrix metalloproteinase isolated from porcine enamel organ

21 January 2018

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Identification and structural and functional characterization of human enamelysin (MMP-20)

21 January 2018

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Isolation, characterization, and chromosomal location of the mouse enamelysin gene

21 January 2018

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Assignment of serine protease 17 (PRSS17) to human chromosome bands 19q13.3-->q13.4 by in situ hybridization

21 January 2018

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Characterization of the mouse and human PRSS17 genes, their relationship to other serine proteases, and the expression of PRSS17 in developing mouse incisors

21 January 2018

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Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

21 January 2018

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MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

21 January 2018

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Epithelial-mesenchymal signalling regulating tooth morphogenesis

21 January 2018

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The genetics of human tooth agenesis: new discoveries for understanding dental anomalies

21 January 2018

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A human MSX1 homeodomain missense mutation causes selective tooth agenesis

21 January 2018

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Mutation of PAX9 is associated with oligodontia

21 January 2018

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X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

21 January 2018

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The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

21 January 2018

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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

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21 January 2018

Identifiers

DOI

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20 January 2020

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