Yo Niida

Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions

Yo Niida, Anat Stemmer‐Rachamimov, Marian L. Logrip et al. · The American Journal of Human Genetics · 2001 · 201 citations · Full text

Tuberous Sclerosis Complex, Developmental Anomaly, Somatic Variant +10

Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection.

Takeshi Futatani, Toshio Miyawaki, Satoshi Tsukada et al. · PubMed · 1998 · 169 citations

Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

Yo Niida, Nicole Lawrence-Smith, Ashleigh Banwell et al. · Human Mutation · 1999 · 153 citations

Tuberous Sclerosis Complex, Mendelian Disorder, Genetic Disorder +13

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan

S. Hashimoto, Satoshi Tsukada, M. Matsushita et al. · Blood · 1996 · 126 citations · Full text

Superiority of Denaturing High Performance Liquid Chromatography over single‐stranded conformation and conformation‐sensitive gel electrophoresis for mutation detection in TSC2

Yew-Sing Choy, Sandra L. Dabora, F. Scott Hall et al. · Annals of Human Genetics · 1999 · 125 citations · Full text