Fukami M - Search Results

1

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Yamoto K, et al. Among authors: fukami m. Eur J Hum Genet. 2019 Dec;27(12):1845-1857. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22. Eur J Hum Genet. 2019. PMID: 31332306 Free PMC article.

2

Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function.

Fukami M, Matsuo N, Hasegawa T, Sato S, Ogata T. Fukami M, et al. Eur J Endocrinol. 2003 Oct;149(4):337-41. doi: 10.1530/eje.0.1490337. Eur J Endocrinol. 2003. PMID: 14514349

3

Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.

Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T. Fukami M, et al. Endocr J. 2004 Apr;51(2):197-200. doi: 10.1507/endocrj.51.197. Endocr J. 2004. PMID: 15118270 Free article.

4

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

5

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

Hasegawa T, Fukami M, Sato N, Katsumata N, Sasaki G, Fukutani K, Morohashi K, Ogata T. Hasegawa T, et al. Among authors: fukami m. J Clin Endocrinol Metab. 2004 Dec;89(12):5930-5. doi: 10.1210/jc.2004-0935. J Clin Endocrinol Metab. 2004. PMID: 15579739 Review.

6

Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling.

Soneda S, Fukami M, Fujimoto M, Hasegawa T, Koitabashi Y, Ogata T. Soneda S, et al. Among authors: fukami m. Endocr J. 2005 Feb;52(1):83-8. doi: 10.1507/endocrj.52.83. Endocr J. 2005. PMID: 15758562 Free article.

7

Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.

Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T. Sato N, et al. Among authors: fukami m. Hum Reprod. 2005 Aug;20(8):2173-8. doi: 10.1093/humrep/dei052. Epub 2005 Apr 21. Hum Reprod. 2005. PMID: 15845591

8

Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors.

Yoshida R, Fukami M, Sasagawa I, Hasegawa T, Kamatani N, Ogata T. Yoshida R, et al. Among authors: fukami m. J Clin Endocrinol Metab. 2005 Aug;90(8):4716-21. doi: 10.1210/jc.2005-0211. Epub 2005 May 17. J Clin Endocrinol Metab. 2005. PMID: 15899960

9

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.

Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Fukami M, et al. Am J Med Genet A. 2005 Aug 15;137(1):72-6. doi: 10.1002/ajmg.a.30852. Am J Med Genet A. 2005. PMID: 16007631 Review.

10

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

Fukami M, Kato F, Tajima T, Yokoya S, Ogata T. Fukami M, et al. Am J Hum Genet. 2006 Jan;78(1):167-70. doi: 10.1086/499254. Am J Hum Genet. 2006. PMID: 16385461 Free PMC article. No abstract available.

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