Fukami M - Search Results

1

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Hosono K, et al. Among authors: fukami m. Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z. Sci Rep. 2018. PMID: 29844330 Free PMC article.

2

SOX10 mutation in Waardenburg syndrome type II.

Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. Iso M, et al. Among authors: fukami m. Am J Med Genet A. 2008 Aug 15;146A(16):2162-3. doi: 10.1002/ajmg.a.32403. Am J Med Genet A. 2008. PMID: 18627047 No abstract available.

3

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Dateki S, et al. Among authors: fukami m. J Clin Endocrinol Metab. 2010 Feb;95(2):756-64. doi: 10.1210/jc.2009-1334. Epub 2009 Dec 4. J Clin Endocrinol Metab. 2010. PMID: 19965921

4

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Suzuki J, et al. Among authors: fukami m. J Hum Genet. 2014 Jun;59(6):353-6. doi: 10.1038/jhg.2014.34. Epub 2014 May 8. J Hum Genet. 2014. PMID: 24804704

5

Genotype-phenotype correlation of PAX6 gene mutations in aniridia.

Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N. Yokoi T, et al. Among authors: fukami m. Hum Genome Var. 2016 Feb 11;3:15052. doi: 10.1038/hgv.2015.52. eCollection 2016. Hum Genome Var. 2016. PMID: 27081561 Free PMC article.

6

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.

Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T. Yamoto K, et al. Among authors: fukami m. Hum Mutat. 2017 Aug;38(8):953-958. doi: 10.1002/humu.23253. Epub 2017 May 29. Hum Mutat. 2017. PMID: 28489339

7

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. Shima H, et al. Among authors: fukami m. Endocr J. 2017 Aug 30;64(8):813-817. doi: 10.1507/endocrj.EJ17-0078. Epub 2017 Jul 28. Endocr J. 2017. PMID: 28659543 Free article.

8

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.

Fukami M, Miyado M. Fukami M, et al. Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):90-94. doi: 10.6065/apem.2017.22.2.90. Epub 2017 Jun 28. Ann Pediatr Endocrinol Metab. 2017. PMID: 28690986 Free PMC article. Review.

9

Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.

Nakamura S, Miyado M, Saito K, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H, Fukami M. Nakamura S, et al. Among authors: fukami m. Andrology. 2017 Jul;5(4):824-831. doi: 10.1111/andr.12378. Andrology. 2017. PMID: 28718531 Free article.

10

FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism.

Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T. Yamoto K, et al. Among authors: fukami m. Am J Med Genet A. 2018 Jan;176(1):139-143. doi: 10.1002/ajmg.a.38535. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29160040 No abstract available.

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