Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Takaya Oda, Abdel Elkahloun, Brian L. Pike, +8

Nature Genetics

Mendelian DisorderHuman Jagged1 GeneGenetic DisorderGeneticsPathogenesis +6

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Suzanne D. DeBrosse, Kazuki Okajima, Shulin Zhang, +6

Molecular Genetics and Metabolism

Neurodegenerative DiseasesSurvival OutcomesMetabolic DisorderGenetic DisorderGenetics +8

Sensitive enzyme immunoassay for human Cu/Zn superoxide dismutase

Naomi Kurobe, Fujiko Suzuki, Kazuki Okajima, +1

Clinica Chimica Acta

Sensitive EnzymeAllergyBioactive MetalMetalloproteinBioanalysis +5

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

Mariko Suchi, Haruo Mizuno, Yoko Kawai, +6

PubMed

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

Daniela N. Schweitzer, John M. Graham, Ralph S. Lachman, +7

American Journal of Medical Genetics

Genomic Organization, Expression, and Chromosome Location of the Human SNAIL Gene (SNAI1) and a Related Processed Pseudogene (SNAI1P)

William A. Paznekas, Kazuki Okajima, Michael Schertzer, +2

Genomics

Developmental BiologyGenomic OrganizationChromosome LocationDevelopmental GeneticsGenetics +13

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Kazuki Okajima, Luther K. Robinson, Meeghan A. Hart, +5

American Journal of Medical Genetics

Ocular DiseasePathologyCraniosynostosis SyndromesOpaque CorneaeDermatology +14

Enhancement of S-100β protein in blood of patients with down’s syndrome

Kanefusa Kato, Fujiko Suzuki, Naomi Kurobe, +4

Journal of Molecular Neuroscience

Down SyndromeAutoimmune DiseaseHematologyImmunologyPathology +3

Novel compound heterozygous mutations in <i><scp>DYNC2H1</scp></i> in a patient with severe short‐rib polydactyly syndrome type <scp>III</scp> phenotype

Toshio Okamoto, Ken Nagaya, Yumi Kawata, +5

Congenital Anomalies

Rare DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +12

Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing

Mireguli Maimaiti, Satoru Takahashi, Kazuki Okajima, +6

Journal of Human Genetics

EngineeringGeneticsRna SplicingMolecular BiologyMolecular Genetics +14