Fukami M - Search Results

1

WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome.

Sutani A, Shima H, Hijikata A, Hosokawa S, Katoh-Fukui Y, Takasawa K, Suzuki E, Doi S, Shirai T, Morio T, Fukami M, Kashimada K. Sutani A, et al. Among authors: fukami m. Eur J Med Genet. 2020 Jan;63(1):103626. doi: 10.1016/j.ejmg.2019.01.016. Epub 2019 Jan 31. Eur J Med Genet. 2020. PMID: 30711679

2

CXorf6 is a causative gene for hypospadias.

Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjöld A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T. Fukami M, et al. Nat Genet. 2006 Dec;38(12):1369-71. doi: 10.1038/ng1900. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086185

3

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.

Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T. Fukami M, et al. Endocr J. 2013;60(8):1013-20. doi: 10.1507/endocrj.ej13-0023. Epub 2013 May 9. Endocr J. 2013. PMID: 23657145 Free article.

4

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.

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

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

Nagasaki K, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. Nagasaki K, et al. Among authors: fukami m. Am J Med Genet A. 2014 Mar;164A(3):731-5. doi: 10.1002/ajmg.a.36314. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375913

7

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.

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

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.

Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y. Suzuki E, et al. Among authors: fukami m. Horm Res Paediatr. 2015;84(3):212-6. doi: 10.1159/000436965. Epub 2015 Jul 29. Horm Res Paediatr. 2015. PMID: 26228106

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