Nakamura A - Search Results

1

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: nakamura a. 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.

2

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Nakamura A, Fujiwara F, Hasegawa Y, Ishizu K, Mabe A, Nakagawa H, Nagasaki K, Jo W, Tajima T. Nakamura A, et al. Endocr J. 2011;58(2):123-30. doi: 10.1507/endocrj.k10e-246. Epub 2010 Dec 10. Endocr J. 2011. PMID: 21157112 Free article.

3

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.

Tajima T, Nakamura A, Ishizu K. Tajima T, et al. Among authors: nakamura a. Endocr J. 2013;60(2):245-9. doi: 10.1507/endocrj.ej13-0009. Epub 2013 Jan 30. Endocr J. 2013. PMID: 23363888 Free article.

4

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group. Fukami M, et al. Among authors: nakamura a. J Hum Genet. 2015 Sep;60(9):553-6. doi: 10.1038/jhg.2015.53. Epub 2015 Jun 4. J Hum Genet. 2015. PMID: 26040210

5

A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.

Yeşiltepe Mutlu G, Kırmızıbekmez H, Nakamura A, Fukami M, Hatun Ş. Yeşiltepe Mutlu G, et al. Among authors: nakamura a. J Clin Res Pediatr Endocrinol. 2015 Dec;7(4):344-8. doi: 10.4274/jcrpe.2249. J Clin Res Pediatr Endocrinol. 2015. PMID: 26777049 Free PMC article.

6

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M. Nakamura A, et al. J Clin Endocrinol Metab. 2016 Jul;101(7):2623-7. doi: 10.1210/jc.2016-1725. Epub 2016 Jun 2. J Clin Endocrinol Metab. 2016. PMID: 27253667

7

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.

Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, Ogata T. Kagami M, et al. Among authors: nakamura a. Genet Med. 2017 Apr;19(4):476-482. doi: 10.1038/gim.2016.123. Epub 2016 Sep 15. Genet Med. 2017. PMID: 27632690 Free PMC article.

8

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.

Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. Shima H, et al. Among authors: nakamura a. Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27648561

9

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

Goto M, Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K. Goto M, et al. Among authors: nakamura a. Pediatr Int. 2016 Nov;58(11):1229-1231. doi: 10.1111/ped.13096. Pediatr Int. 2016. PMID: 27882740

10

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M. Inoue T, et al. Among authors: nakamura a. Clin Epigenetics. 2017 May 15;9:52. doi: 10.1186/s13148-017-0350-6. eCollection 2017. Clin Epigenetics. 2017. PMID: 28515796 Free PMC article.

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