Mutations in EFHC1 cause juvenile myoclonic epilepsy

Toshimitsu Suzuki, Antonio V. Delgado‐Escueta, Kripamoy Aguan, +25

Nature Genetics

Disease Gene IdentificationGeneticsNeuroscienceGenetic Disorder

Allelotype of human ovarian cancer.

Takaaki Sato, Hiroko Saito, Ryoji Morita, +3

PubMed

Tumor BiologyTumoral PathologyTumor HeterogeneityCytogeneticsGenetics +13

Direct Metagenomic Detection of Viral Pathogens in Nasal and Fecal Specimens Using an Unbiased High-Throughput Sequencing Approach

Shota Nakamura, Cheng-Song Yang, Naomi Sakon, +18

PLoS ONE

Common regions of deletion on chromosomes 5q, 6q, and 10q in renal cell carcinoma.

Ryoji Morita, S. Saito, Jiro ISHIKAWA, +4

PubMed

CytogeneticsGeneticsRenal PathologyPathologyAllelic Losses +16

A detailed deletion mapping of the short arm of chromosome 3 in sporadic renal cell carcinoma.

Kazuhiro Yamakawa, Ryoji Morita, Ei Takahashi, +3

PubMed

Detailed Deletion MappingChromatinShort ArmUrologyChromosome 3P21.3 +13

Allelotype of renal cell carcinoma.

Ryoji Morita, Jiro ISHIKAWA, Masahiro Tsutsumi, +5

PubMed

UrologyGenitourinary CancerTumor HeterogeneityMultiple GenesGenetics +13

Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

Shogo Endo, Masako Suzuki, Mariko Sumi, +5

Proceedings of the National Academy of Sciences

Cerebellar Purkinje CellsRabbit G-substrateSignal RecognitionCellular PhysiologySocial Sciences +16

Novel polymorphisms in the promoter region of the neurotrophin‐3 gene and their associations with schizophrenia

Mineko Hattori, Hiroshi Kunugi, Akihisa Akahane, +6

American Journal of Medical Genetics

GeneticsHuman PolymorphismGenetic FoundationCa Repeat PolymorphismPsychiatric Genetics +14

Juvenile myoclonic epilepsy: Linkage to chromosome 6p12 in Mexico families

Dongsheng Bai, María Elisa Alonso, Marco T. Medina, +11

American Journal of Medical Genetics

Clinical EpilepsyGeneticsGenetic EpidemiologyJuvenile Myoclonic EpilepsyNeurology +14

Childhood Absence Epilepsy in 8q24: Refinement of Candidate Region and Construction of Physical Map

Yoshihisa Sugimoto, Ryoji Morita, Kenji Amano, +6

Genomics

Neuropsychological FunctioningDisabilityPediatricsEarly Childhood DevelopmentEducation +8