Fukami M - Search Results

1

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.

Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. Ohishi A, et al. Among authors: fukami m. J Hum Genet. 2020 Jan;65(2):181-186. doi: 10.1038/s10038-019-0690-5. Epub 2019 Oct 23. J Hum Genet. 2020. PMID: 31645653

2

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.

Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, Heinrich U, Garcia-Heras J, Schiebel K, Rappold GA. Rao E, et al. Among authors: fukami m. Hum Genet. 1997 Aug;100(2):236-9. doi: 10.1007/s004390050497. Hum Genet. 1997. PMID: 9254856

3

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. Fukami M, et al. Am J Hum Genet. 2000 Sep;67(3):563-73. doi: 10.1086/303047. Epub 2000 Jul 20. Am J Hum Genet. 2000. PMID: 10903929 Free PMC article.

4

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

5

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.

6

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

7

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.

8

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.

9

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

10

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

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