Search Results

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

• Authors : Yasuko Shoji^1,2; Ayaha Hata¹; Takatoshi Maeyama¹

• Source: Clinical Pediatric Endocrinology. Apr2024, Vol. 33 Issue 2, p50-58. 9p.

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Clinical Phenotypes Associated with the Gut Microbiome in Older Japanese People with Care Needs in a Nursing Home.

• Authors : Inoue R; Department of Nutritional Science, Faculty of Health and Welfare Science, Okayama Prefectural University, Soja City 719-1197, Okayama, Japan.; Microbial Research Center for Health and Medicine, National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN), Ibaraki City 567-0085, Osaka, Japan.

Subjects: Frailty* ; Gastrointestinal Microbiome* ; Nursing Homes*

• Source: Nutrients [Nutrients] 2024 Nov 08; Vol. 16 (22). Date of Electronic Publication: 2024 Nov 08.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.

• Authors : Togi, Sumihito^1,2 (AUTHOR); Ura, Hiroki^1,2 (AUTHOR); Hatanaka, Hisayo¹ (AUTHOR)

Subjects: *TUBEROUS sclerosis; *JAPANESE people; *MISSENSE mutationJAPAN

• Source: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 19, p11175. 27p.

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Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.

• Authors : Natsume K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8560, Japan.; Kominami T

Subjects: Eye Proteins*/Eye Proteins*/Eye Proteins*/genetics ; Phenotype* ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics

• Source: Scientific reports [Sci Rep] 2024 Oct 27; Vol. 14 (1), pp. 25669. Date of Electronic Publication: 2024 Oct 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Associations between Broader Autism Phenotype and Dietary Intake: A Cross-Sectional Study (Japan Environment & Children's Study)

• Authors : Hirokawa, Kumi (ORCID 0000-0002-5603-3739); Kimura, Takashi; Ikehara, Satoyo

Subjects: Eating Habits; Dietetics; NutritionJapan

• Source: Journal of Autism and Developmental Disorders. Aug 2020 50(8):2698-2709.12

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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

• Authors : Higuchi Y; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.; Hasegawa K

Subjects: Genotype* ; Phenotype*; Osteogenesis Imperfecta/Osteogenesis Imperfecta/Osteogenesis Imperfecta/*genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Jun; Vol. 9 (6), pp. e1675. Date of Electronic Publication: 2021 May 03.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A case of renal cell carcinoma unclassified with medullary phenotype without detectable gene deletion.

• Authors : Tsuzuki, Sadatoshi¹ (AUTHOR); Kataoka, Tatsuki R.¹ (AUTHOR); Ito, Hiroaki¹ (AUTHOR)

• Source: Pathology International. Dec2019, Vol. 69 Issue 12, p710-714. 5p.

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Geographical distribution of Enterobacterales with a carbapenemase IMP-6 phenotype and its association with antimicrobial use: An analysis using comprehensive national surveillance data on antimicrobial resistance.

• Authors : Hirabayashi, Aki¹ (AUTHOR) ; Yahara, Koji¹ (AUTHOR) ; Kajihara, Toshiki¹ (AUTHOR)

Subjects: *DRUG resistance in microorganisms; *CARBAPENEMASE; *IMIPENEMJAPAN

• Source: PLoS ONE. 12/17/2020, Vol. 15 Issue 12, p1-12. 12p.

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Investigating the effects of nest shading on the green turtle (Chelonia mydas) hatchling phenotype in the Ogasawara islands using a field-based split clutch experiment.

• Authors : Kobayashi S; Organization for the Strategic Coordination of Research and Intellectual Property, Meiji University, Kanagawa, Japan.; Endo D

Subjects: Temperature*; Turtles/Turtles/Turtles/*embryology; Animal Shells/Animal Shells/Animal Shells/embryology

• Source: Journal of experimental zoology. Part A, Ecological and integrative physiology [J Exp Zool A Ecol Integr Physiol] 2020 Nov; Vol. 333 (9), pp. 629-636. Date of Electronic Publication: Publisher: Wiley Periodicals, Inc Country of Publication: United States NLM ID: 101710204 Publication Model: Print-Electronic Cited Medium: Internet

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HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data.

• Authors : Watanabe M; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Nakamura Y

Subjects: Biological Specimen Banks* ; Genetic Association Studies*; HLA-DP beta-Chains/HLA-DP beta-Chains/HLA-DP beta-Chains/*genetics

• Source: Scientific reports [Sci Rep] 2021 Jan 12; Vol. 11 (1), pp. 607. Date of Electronic Publication: 2021 Jan 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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