Tetsuya Niihori

Sendai, 9808575, Japan

Last Updated: 09/26/2026

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Found 88 publications

Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report.

Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report.

Journal: Familial cancer

Published: August 17, 2025

KLHL9-linked distal myopathy: a second family suggesting broad phenotypic variability.

KLHL9-linked distal myopathy: a second family suggesting broad phenotypic variability.

Journal: Neuromuscular disorders : NMD

Published: April 23, 2025

TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.

TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.

Journal: Journal of gastroenterology

Published: February 18, 2025

Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.

Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.

Journal: The Tohoku journal of experimental medicine

Published: December 18, 2024

Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.

Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.

Journal: Molecular genetics & genomic medicine

Published: November 23, 2024

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.

Journal: Scientific reports

Published: September 29, 2024

Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.

Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.

Journal: Cancer medicine

Published: May 20, 2024

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.

Journal: Neurology. Genetics

Published: May 13, 2024

Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.

Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.

Journal: JCI insight

Published: April 26, 2024

Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.

Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.

Journal: Cerebellum (London, England)

Published: January 28, 2024

Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.

Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.

Journal: Human molecular genetics

Published: January 28, 2024

Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome.

Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: January 09, 2024

Showing 1-12 of 88

Last Updated: 09/26/2026