Adachi M - Search Results

1

A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space.

Iwata S, Ito M, Nakata T, Noguchi Y, Okuno T, Ohkawara B, Masuda A, Goto T, Adachi M, Osaka H, Nonaka R, Arikawa-Hirasawa E, Ohno K. Iwata S, et al. Among authors: adachi m. Neuromuscul Disord. 2015 Aug;25(8):667-71. doi: 10.1016/j.nmd.2015.05.002. Epub 2015 May 8. Neuromuscul Disord. 2015. PMID: 26031903

2

1p36 deletion syndrome associated with Prader-Willi-like phenotype.

Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, Osaka H, Yamamoto K, Kurosawa K. Tsuyusaki Y, et al. Among authors: adachi m. Pediatr Int. 2010 Aug;52(4):547-50. doi: 10.1111/j.1442-200X.2010.03090.x. Pediatr Int. 2010. PMID: 20113418

3

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Among authors: adachi m. PLoS One. 2012;7(9):e46008. doi: 10.1371/journal.pone.0046008. Epub 2012 Sep 24. PLoS One. 2012. PMID: 23029363 Free PMC article.

4

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Among authors: adachi m. Horm Res Paediatr. 2014;81(2):133-8. doi: 10.1159/000355279. Epub 2014 Jan 18. Horm Res Paediatr. 2014. PMID: 24457197

5

Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.

Adachi M, Tachibana K, Asakura Y, Abe S, Nakae J, Tajima T, Fujieda K. Adachi M, et al. J Clin Endocrinol Metab. 2001 Jan;86(1):9-12. doi: 10.1210/jcem.86.1.7116. J Clin Endocrinol Metab. 2001. PMID: 11231969

6

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Hirose Y, et al. Among authors: adachi m. J Hum Genet. 2006;51(8):706-710. doi: 10.1007/s10038-006-0015-3. Epub 2006 Jul 11. J Hum Genet. 2006. PMID: 16832578

7

Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.

Tajima T, Nawate M, Takahashi Y, Mizoguchi Y, Sugihara S, Yoshimoto M, Murakami M, Adachi M, Tachibana K, Mochizuki H, Fujieda K. Tajima T, et al. Among authors: adachi m. Endocr J. 2006 Oct;53(5):647-52. doi: 10.1507/endocrj.k06-034. Epub 2006 Aug 11. Endocr J. 2006. PMID: 16902263 Free article.

8

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T. Kurokawa K, et al. Among authors: adachi m. J Hum Genet. 2007;52(4):349-354. doi: 10.1007/s10038-007-0122-9. Epub 2007 Feb 20. J Hum Genet. 2007. PMID: 17310273

9

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

Narumi S, Nagasaki K, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T. Narumi S, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2011 Aug;96(8):E1340-5. doi: 10.1210/jc.2011-0070. Epub 2011 Jun 15. J Clin Endocrinol Metab. 2011. PMID: 21677043

10

Association between graves' disease and renal coloboma syndrome: a case report.

Sato T, Muroya K, Hanakawa J, Asakura Y, Takahashi E, Shiroyanagi Y, Yamazaki Y, Tanaka Y, Hasegawa T, Adachi M. Sato T, et al. Among authors: adachi m. Clin Pediatr Endocrinol. 2013 Jul;22(3):45-51. doi: 10.1292/cpe.22.45. Epub 2013 Aug 1. Clin Pediatr Endocrinol. 2013. PMID: 23966757 Free PMC article.

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