FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)

Target gene analyses of 39 amelogenesis imperfecta kindreds

(2012) Hui-Chen Chan et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization

(2012) V. S. Tagliabracci et al.   SCIENCE

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice

(2012) P. Vogel et al.   VETERINARY PATHOLOGY

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

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta

(2011) Sang Hyun Cho et al.   HUMAN MUTATION

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

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

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

(2010) M Fradin et al.   CLINICAL GENETICS

Novel WDR72 Mutation and Cytoplasmic Localization

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

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan–protein linkage region

(2009) Toshiyasu Koike et al.   BIOCHEMICAL JOURNAL

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

(2009) MA Simpson et al.   CLINICAL GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

The Relationship of Amelogenesis Imperfecta and Nephrocalcinosis Syndrome

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

FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta

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

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption

(2008) Eva Decker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Case Reports of a New Syndrome Associating Gingival Fibromatosis and Dental Abnormalities in a Consanguineous Family

(2008) Hercílio Martelli-Júnior et al.   JOURNAL OF PERIODONTOLOGY