Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

Naohiro Kamiyoshi, Kandai Nozu, Xue Jun Fu, +14

Clinical Journal of the American Society of Nephrology

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome

Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, +17

Kidney International

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, +13

Kidney International Reports

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

Tomohiko Yamamura, Tomoko Horinouchi, Tomomi Adachi, +29

Nature Communications

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome

Tomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, +27

Journal of the American Society of Nephrology

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

Ai Unzaki, Naoya Morisada, Kandai Nozu, +23

Journal of Human Genetics

UrologyMendelian DisorderGenetic DisorderMedicineGenetics +7

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

China Nagano, Kandai Nozu, Naoya Morisada, +17

Clinical and Experimental Nephrology

Pair AnalysisGeneticsGenetic EpidemiologyMolecular GeneticsGenomics +14

Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

Naoya Morisada, Riku Hamada, Kenichiro Miura, +4

CEN Case Reports

Unrelated PatientsMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +6

Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population

Nana Sakakibara, Kandai Nozu, Tomohiko Yamamura, +13

Journal of Human Genetics

Comprehensive Genetic AnalysisNext-generation SequencingGeneticsPathologyGenomics +3

Clinical spectrum of male patients with OFD1 mutations

Nana Sakakibara, Naoya Morisada, Kandai Nozu, +15

Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsPathology +4