Fukami M - Search Results

1

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.

Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M. Nagai K, et al. Among authors: fukami m. Cytogenet Genome Res. 2017;151(1):1-4. doi: 10.1159/000458469. Epub 2017 Mar 3. Cytogenet Genome Res. 2017. PMID: 28253503 Free article.

2

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.

Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T. Homma K, et al. Among authors: fukami m. J Clin Endocrinol Metab. 2006 Jul;91(7):2643-9. doi: 10.1210/jc.2005-2460. Epub 2006 Apr 11. J Clin Endocrinol Metab. 2006. PMID: 16608896

3

Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M. Igarashi M, et al. Among authors: fukami m. PLoS One. 2013 Jul 8;8(7):e68194. doi: 10.1371/journal.pone.0068194. Print 2013. PLoS One. 2013. PMID: 23861871 Free PMC article.

4

Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.

Fukami M, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Burger H, Simpson ER, Umezawa A, Shihara D, Nakabayashi K, Bulun SE, Shozu M, Ogata T. Fukami M, et al. J Clin Endocrinol Metab. 2013 Dec;98(12):E2013-21. doi: 10.1210/jc.2013-2520. Epub 2013 Sep 24. J Clin Endocrinol Metab. 2013. PMID: 24064691 Free PMC article.

5

De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.

Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M. Suzuki E, et al. Among authors: fukami m. Horm Res Paediatr. 2014;81(2):139-44. doi: 10.1159/000355380. Epub 2013 Nov 20. Horm Res Paediatr. 2014. PMID: 24280688 Free article.

6

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.

Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M. Izumi Y, et al. Among authors: fukami m. Fertil Steril. 2014 Oct;102(4):1130-1136.e3. doi: 10.1016/j.fertnstert.2014.06.017. Epub 2014 Jul 23. Fertil Steril. 2014. PMID: 25064402 Free article.

7

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.

Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T. Nakashima S, et al. Among authors: fukami m. J Hum Genet. 2014 Oct;59(10):549-53. doi: 10.1038/jhg.2014.70. Epub 2014 Aug 7. J Hum Genet. 2014. PMID: 25102093

8

Skeletal Deformity Associated with SHOX Deficiency.

Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M. Seki A, et al. Among authors: fukami m. Clin Pediatr Endocrinol. 2014 Jul;23(3):65-72. doi: 10.1297/cpe.23.65. Epub 2014 Aug 6. Clin Pediatr Endocrinol. 2014. PMID: 25110390 Free PMC article. Review.

9

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.

Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A. Izumi Y, et al. Among authors: fukami m. Endocrine. 2015 Jun;49(2):553-6. doi: 10.1007/s12020-014-0434-4. Epub 2014 Oct 2. Endocrine. 2015. PMID: 25273316 No abstract available.

10

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M. Kon M, et al. Among authors: fukami m. Hum Reprod. 2015 Mar;30(3):499-506. doi: 10.1093/humrep/deu364. Epub 2015 Jan 20. Hum Reprod. 2015. PMID: 25605705

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