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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Kawashima S, et al. Among authors: wakui k. J Clin Endocrinol Metab. 2018 Jun 1;103(6):2083-2088. doi: 10.1210/jc.2017-02780. J Clin Endocrinol Metab. 2018. PMID: 29878129
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M. Hara-Isono K, et al. Among authors: wakui k. J Hum Genet. 2021 Nov;66(11):1121-1126. doi: 10.1038/s10038-021-00937-7. Epub 2021 May 24. J Hum Genet. 2021. PMID: 34031513
Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases.
Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. Muroya K, et al. Among authors: wakui k. J Clin Endocrinol Metab. 2000 Sep;85(9):3094-100. doi: 10.1210/jcem.85.9.6771. J Clin Endocrinol Metab. 2000. PMID: 10999792 Clinical Trial.
[Tricho-rhino-phalangeal syndrome, type II].
Wakui K, Fukushima Y. Wakui K, et al. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):755-6. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11529008 Review. Japanese. No abstract available.
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Among authors: wakui k. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.
218 results