Fukami M - Search Results

1

Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.

Okuno M, Ayabe T, Yokota I, Musha I, Shiga K, Kikuchi T, Kikuchi N, Ohtake A, Nakamura A, Nakabayashi K, Okamura K, Momozawa Y, Kubo M, Suzuki J, Urakami T, Kawamura T, Amemiya S, Ogata T, Sugihara S, Fukami M; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Okuno M, et al. Among authors: fukami m. Diabet Med. 2018 Mar;35(3):376-380. doi: 10.1111/dme.13566. Epub 2018 Jan 3. Diabet Med. 2018. PMID: 29247561

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

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

4

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.

5

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.

6

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

7

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

8

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.

9

Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.

Sato N, Ohyama K, Fukami M, Okada M, Ogata T. Sato N, et al. Among authors: fukami m. J Clin Endocrinol Metab. 2006 Apr;91(4):1415-8. doi: 10.1210/jc.2005-2266. Epub 2006 Jan 17. J Clin Endocrinol Metab. 2006. PMID: 16418210

10

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.

Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T. Fukami M, et al. Pediatr Res. 2006 Feb;59(2):276-80. doi: 10.1203/01.pdr.0000195825.31504.28. Pediatr Res. 2006. PMID: 16439592

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

433 results

Search Page