Fukami M - Search Results

1

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.

Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Montalbano A, et al. Among authors: fukami m. EMBO Mol Med. 2016 Dec 1;8(12):1455-1469. doi: 10.15252/emmm.201606623. Print 2016 Dec. EMBO Mol Med. 2016. PMID: 27861128 Free PMC article.

2

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Rao E, et al. Among authors: fukami m. Nat Genet. 1997 May;16(1):54-63. doi: 10.1038/ng0597-54. Nat Genet. 1997. PMID: 9140395

3

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

4

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SL, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold GA. Schiller S, et al. Among authors: fukami m. Eur J Hum Genet. 2000 Jan;8(1):54-62. doi: 10.1038/sj.ejhg.5200402. Eur J Hum Genet. 2000. PMID: 10713888

5

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.

6

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F. Gohlke BC, et al. Among authors: fukami m. J Med Genet. 2000 Aug;37(8):600-2. doi: 10.1136/jmg.37.8.600. J Med Genet. 2000. PMID: 10922387 Free PMC article.

7

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T. Rappold GA, et al. Among authors: fukami m. J Clin Endocrinol Metab. 2002 Mar;87(3):1402-6. doi: 10.1210/jcem.87.3.8328. J Clin Endocrinol Metab. 2002. PMID: 11889216

8

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

9

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.

10

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

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