Adachi M - Search Results

1

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.

Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T. Narumi S, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2009 Apr;94(4):1317-23. doi: 10.1210/jc.2008-1767. Epub 2009 Jan 21. J Clin Endocrinol Metab. 2009. PMID: 19158199

2

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

Adachi M, Tachibana K, Asakura Y, Suwa S, Nishimura G. Adachi M, et al. Endocr J. 1999 Apr;46(2):285-92. doi: 10.1507/endocrj.46.285. Endocr J. 1999. PMID: 10460013 Free article.

3

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.

Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T. Adachi M, et al. Hum Genet. 2000 Mar;106(3):306-10. doi: 10.1007/s004390051042. Hum Genet. 2000. PMID: 10798359

4

Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.

Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K. Sato K, et al. Among authors: adachi m. Pediatr Res. 2000 Oct;48(4):536-40. doi: 10.1203/00006450-200010000-00019. Pediatr Res. 2000. PMID: 11004247

5

A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.

Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K. Tajima T, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2000 Dec;85(12):4690-4. doi: 10.1210/jcem.85.12.7078. J Clin Endocrinol Metab. 2000. PMID: 11134129

6

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.

Matsuo M, Muroya K, Adachi M, Tachibana K, Asakura Y, Nakagomi Y, Hanaki K, Yokoya S, Yoshizawa A, Igarashi Y, Hanew K, Matsuo N, Ogata T. Matsuo M, et al. Among authors: adachi m. Hum Genet. 2000 Nov;107(5):433-9. doi: 10.1007/s004390000377. Hum Genet. 2000. PMID: 11140940

7

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

8

Hypothalamo-pituitary hypothyroidism detected by neonatal screening for congenital hypothyroidism using measurement of thyroid-stimulating hormone and thyroxine.

Asakura Y, Tachibana K, Adachi M, Suwa S, Yamagami Y. Asakura Y, et al. Among authors: adachi m. Acta Paediatr. 2002;91(2):172-7. doi: 10.1080/080352502317285171. Acta Paediatr. 2002. PMID: 11952005

9

Ovarian function in three female patients with McCune-Albright syndrome with persistent autonomous ovarian activity.

Maesaka H, Abe Y, Tachibana K, Adachi M, Asakura Y. Maesaka H, et al. Among authors: adachi m. J Pediatr Endocrinol Metab. 2002;15 Suppl 3:903-11. J Pediatr Endocrinol Metab. 2002. PMID: 12199349

10

Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening.

Adachi M, Asakura Y, Tachibana K. Adachi M, et al. Acta Paediatr. 2003 Jun;92(6):698-703. doi: 10.1080/08035250310002759. Acta Paediatr. 2003. PMID: 12856981

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