Works by Kosugi, Shinji
Results: 86
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Effects of atorvastatin on renal function in patients with dyslipidemia and chronic kidney disease: assessment of clinical usefulness in CKD patients with atorvastatin (ASUCA) trial.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 3, p. 417, doi. 10.1007/s10157-016-1304-6
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- Publication type:
- Article
Multiple endocrine neoplasia type 1 in end-stage renal failure.
- Published in:
- Clinical & Experimental Nephrology, 2004, v. 8, n. 4, p. 380, doi. 10.1007/s10157-004-0318-7
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- Publication type:
- Article
Germline mutations of thePTCHgene in Japanese patients with nevoid basal cell carcinoma syndrome.
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- Archives of Dermatological Research, 2005, v. 296, n. 7, p. 303, doi. 10.1007/s00403-004-0520-1
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- Publication type:
- Article
Reproductive decision-making following the diagnosis of an inherited metabolic disorder via newborn screening in Japan: a qualitative study.
- Published in:
- Frontiers in Reproductive Health, 2023, v. 5, p. 1, doi. 10.3389/frph.2023.1098464
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- Publication type:
- Article
Association of Education and Depressive Symptoms with Tooth Loss.
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- Journal of Dental Research, 2021, v. 100, n. 4, p. 361, doi. 10.1177/0022034520969129
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- Publication type:
- Article
Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case.
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- Surgery Today, 2014, v. 44, n. 11, p. 2195, doi. 10.1007/s00595-013-0826-8
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- Publication type:
- Article
Risks and Cough-Aggravating Factors in Prolonged Cough. Epidemiological Observations from the Nagahama Cohort Study.
- Published in:
- 2017
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- Publication type:
- journal article
Effects of Smoking and Shared Epitope on the Production of Anti-Citrullinated Peptide Antibody in a Japanese Adult Population.
- Published in:
- Arthritis Care & Research, 2014, v. 66, n. 12, p. 1818, doi. 10.1002/acr.22385
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- Publication type:
- Article
THE PROCESS OF WHISTLEBLOWING IN A JAPANESE PSYCHIATRIC HOSPITAL.
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- Nursing Ethics, 2008, v. 15, n. 5, p. 631, doi. 10.1177/0969733008092871
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- Publication type:
- Article
Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in ITD.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 4, p. 1199, doi. 10.1210/jc.2005-1832
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- Publication type:
- Article
A Novel Peculiar Mutation in the Sodium/Iodide Symporter Gene in Spanish Siblings with Iodide Transport Defect.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 8, p. 3830, doi. 10.1210/jcem.87.8.8767
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- Publication type:
- Article
A Novel Mutation in the Sodium/Iodide Symporter Gene in the Largest Family with Iodide Transport Defect.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 9, p. 3248, doi. 10.1210/jcem.84.9.5971
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- Publication type:
- Article
High Prevalence of T354P Sodium/Iodide Symporter Gene Mutation in Japanese Patients with Iodide Transport Defect Who Have Heterogeneous Clinical Pictures.
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- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 11, p. 4123, doi. 10.1210/jc.83.11.4123
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- Publication type:
- Article
A Homozygous Missense Mutation of the Sodium/Iodide Symporter Gene Causing Iodide Transport Defect.
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- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 12, p. 3966, doi. 10.1210/jcem.82.12.4425
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- Publication type:
- Article
Frequent nocturnal urination in older men is associated with arterial stiffness: The Nagahama study.
- Published in:
- Hypertension Research, 2019, v. 42, n. 12, p. 1996, doi. 10.1038/s41440-019-0309-4
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- Publication type:
- Article
Association of the spot urine sodium-to-potassium ratio with blood pressure is independent of urinary Na and K levels: The Nagahama study.
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- Hypertension Research, 2019, v. 42, n. 10, p. 1624, doi. 10.1038/s41440-019-0276-9
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- Publication type:
- Article
Association between socioeconomic factors and urinary sodium-to-potassium ratio: the Nagahama Study.
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- Hypertension Research, 2018, v. 41, n. 11, p. 973, doi. 10.1038/s41440-018-0101-x
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- Publication type:
- Article
Clinical significance of an elevated ankle-brachial index differs depending on the amount of appendicular muscle mass: the J-SHIPP and Nagahama studies.
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- Hypertension Research, 2018, v. 41, n. 5, p. 354, doi. 10.1038/s41440-018-0020-x
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- Publication type:
- Article
Prevalence of postmicturition urinary incontinence in Japanese men: Comparison with other types of incontinence.
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- International Journal of Urology, 2013, v. 20, n. 9, p. 911, doi. 10.1111/iju.12074
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- Publication type:
- Article
Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1.
- Published in:
- Clinical Endocrinology, 2000, v. 52, n. 4, p. 509, doi. 10.1046/j.1365-2265.2000.00966.x
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- Publication type:
- Article
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 613, doi. 10.1038/jhg.2015.82
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- Publication type:
- Article
Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.
- Published in:
- 2024
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- Publication type:
- Case Study
Exploring ethical considerations in medical research: Harnessing pre-generated transformers for AI-powered ethics discussions.
- Published in:
- PLoS ONE, 2025, v. 20, n. 1, p. 1, doi. 10.1371/journal.pone.0311148
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- Publication type:
- Article
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan.
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- Congenital Anomalies, 2024, v. 64, n. 3, p. 116, doi. 10.1111/cga.12562
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- Publication type:
- Article
Analysis of triptan use during pregnancy in Japan: A case series.
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- Congenital Anomalies, 2022, v. 62, n. 2, p. 78, doi. 10.1111/cga.12456
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- Publication type:
- Article
Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan.
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- Congenital Anomalies, 2020, v. 60, n. 6, p. 166, doi. 10.1111/cga.12381
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- Publication type:
- Article
Association Between Antinuclear Antibodies and the HLA Class II Locus and Heterogeneous Characteristics of Staining Patterns: The Nagahama Study.
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- Arthritis & Rheumatology, 2014, v. 66, n. 12, p. 3395, doi. 10.1002/art.38867
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- Publication type:
- Article
National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.
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- Pediatrics International, 2019, v. 61, n. 8, p. 748, doi. 10.1111/ped.13927
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- Publication type:
- Article
Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.
- Published in:
- Nature Communications, 2015, v. 6, n. 7, p. 7754, doi. 10.1038/ncomms8754
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- Publication type:
- Article
Knee Pain and Low Back Pain Additively Disturb Sleep in the General Population: A Cross-Sectional Analysis of the Nagahama Study.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140058
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- Publication type:
- Article
Gender Differences in Smoking Initiation and Cessation Associated with the Intergenerational Transfer of Smoking across Three Generations: The Nagahama Study.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 3, p. 1511, doi. 10.3390/ijerph19031511
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- Publication type:
- Article
Lifestyle habits associated with nocturnal urination frequency: The Nagahama study.
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- Neurourology & Urodynamics, 2019, v. 38, n. 8, p. 2359, doi. 10.1002/nau.24156
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- Publication type:
- Article
Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer.
- Published in:
- Gastric Cancer, 2019, v. 22, n. 4, p. 892, doi. 10.1007/s10120-018-00912-w
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- Publication type:
- Article
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
- Published in:
- 2021
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- Publication type:
- Case Study
Real-world outcome of universal screening for Lynch syndrome in Japanese patients with colorectal cancer highlights the importance of targeting patients with young-onset disease.
- Published in:
- Molecular & Clinical Oncology, 2021, v. 15, n. 6, p. N.PAG, doi. 10.3892/mco.2021.2409
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- Publication type:
- Article
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Association between serum α1-antitrypsin levels and all-cause mortality in the general population: the Nagahama study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96833-3
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- Publication type:
- Article
Association of weak hip abduction strength with nocturia in older women: The Nagahama study.
- Published in:
- Geriatrics & Gerontology International, 2019, v. 19, n. 10, p. 1010, doi. 10.1111/ggi.13761
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- Publication type:
- Article
Further Studies of Amino Acids (268-304) in Thyrotropin (TSH)-Lutropin/Chorionic Gonadotropin (LH/CG) Receptor Chimeras: Cysteine-301 Is Important in TSH Binding and Receptor Tertiary Structure.
- Published in:
- Thyroid, 1994, v. 4, n. 1, p. 43, doi. 10.1089/thy.1994.4.43
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- Publication type:
- Article
The Extracellular Domain of the TSH Receptor Has an Immunogenic Epitope Reactive with Graves' IgG but Unrelated to Receptor Function as Well as Determinants Having Different Roles for High Affinity TSH Binding and the Activity of Thyroid-Stimulating Autoantibodies
- Published in:
- Thyroid, 1991, v. 1, n. 4, p. 321, doi. 10.1089/thy.1991.1.321
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- Publication type:
- Article
Descriptive epidemiology of high frequency component based on heart rate variability from 10-second ECG data and daily physical activity among community adult residents: the Nagahama Study.
- Published in:
- BioScience Trends, 2020, v. 14, n. 4, p. 241, doi. 10.5582/bst.2020.03146
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- Publication type:
- Article
Multimedia Presentations on the Human Genome.
- Published in:
- Biochemistry & Molecular Biology Education, 2008, v. 36, n. 6, p. 395, doi. 10.1002/bmb.20231
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- Publication type:
- Article
Thymic neuroendocrine tumour in multiple endocrine neoplasia type 1: female patients are not rare exceptions.
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 2, p. 248, doi. 10.1111/j.1365-2265.2012.04467.x
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- Publication type:
- Article
Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database.
- Published in:
- Clinical Endocrinology, 2012, v. 76, n. 4, p. 533, doi. 10.1111/j.1365-2265.2011.04227.x
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- Publication type:
- Article
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 183
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- Publication type:
- Article
Combined association of clinical and lifestyle factors with non-restorative sleep: The Nagahama Study.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0171849
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- Publication type:
- Article
The Current State of Genetic Counseling Before and After Amniocentesis for Fetal Karyotyping in Japan: A Survey of Obstetric Hospital Clients of a Prenatal Testing Laboratory.
- Published in:
- Journal of Genetic Counseling, 2013, v. 22, n. 6, p. 795, doi. 10.1007/s10897-013-9632-0
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- Publication type:
- Article
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A -Associated Retinitis Pigmentosa in Japanese Patients.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7817, doi. 10.3390/ijms21217817
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- Publication type:
- Article
A Novel Six-nucleotide Insertion in Exon 4 of the MEN1 Gene, 878insCTGCAG, in Three Patients with Familial Insulinoma and Primary Hyperparathyroidism.
- Published in:
- Japanese Journal of Clinical Oncology, 2002, v. 32, n. 9, p. 368, doi. 10.1093/jjco/hyf079
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- Publication type:
- Article