Ayano Yokoi

A novel single-nucleotide polymorphism in the 3'-untranslated region of the human dihydrofolate reductase gene with enhanced expression.

Yoshinori Goto, Li-Jie Yue, Ayano Yokoi et al. · PubMed · 2001 · 117 citations

Genetics, Genetic Epidemiology, Human Polymorphism +19

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported

Yo Niida, Akiko Wakisaka, Takanori Tsuji et al. · Journal of Human Genetics · 2013 · 25 citations · Full text

Tuberous Sclerosis Complex, Mutational Analysis, Genetic Disorder +7

A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1

Yo Niida, Ayano Yokoi, Mondo Kuroda et al. · Brain and Development · 2016 · 21 citations

Paternal Uniparental Isodisomy, Genetic Disorder, Pathology +4

A Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome with a <i>KAT6B</i> 10‐base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome

Yo Niida, Yusuke Mitani, Mondo Kuroda et al. · Congenital Anomalies · 2016 · 14 citations · Full text

Developmental Anomaly, Recurrent Mutation, Mendelian Disorder +15

Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis

Yo Niida, Mondo Kuroda, Yusuke Mitani et al. · Molecular Genetics and Metabolism · 2012 · 13 citations

Dna Sequencing, Nucleic Acid Biomarkers, Biochemistry +9