Nakae J - Search Results

1

Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.

Tajima T, Nakae J, Fujieda K. Tajima T, et al. Among authors: nakae j. Pediatr Nephrol. 2003 Dec;18(12):1280-2. doi: 10.1007/s00467-003-1304-0. Epub 2003 Oct 30. Pediatr Nephrol. 2003. PMID: 14586675

2

Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus.

Tajima T, Okuhara K, Satoh K, Nakae J, Fujieda K. Tajima T, et al. Among authors: nakae j. Endocr J. 2003 Aug;50(4):473-6. doi: 10.1507/endocrj.50.473. Endocr J. 2003. PMID: 14599123

3

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K. Tajima T, et al. Among authors: nakae j. J Clin Endocrinol Metab. 2003 Jan;88(1):45-50. doi: 10.1210/jc.2002-020818. J Clin Endocrinol Metab. 2003. PMID: 12519827

4

Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.

Sato K, Hasegawa Y, Nakae J, Nanao K, Takahashi I, Tajima T, Shinohara N, Fujieda K. Sato K, et al. Among authors: nakae j. J Clin Endocrinol Metab. 2002 Jul;87(7):3068-73. doi: 10.1210/jcem.87.7.8639. J Clin Endocrinol Metab. 2002. PMID: 12107202

5

[Leprechaunism caused by mutations in the insulin receptor gene].

Murashita M, Tajima T, Nakae J, Fujieda K. Murashita M, et al. Among authors: nakae j. Nihon Rinsho. 2002 Feb;60(2):344-9. Nihon Rinsho. 2002. PMID: 11857924 Review. Japanese.

6

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.

Tajima T, Kobayashi Y, Abe S, Takahashi M, Konno M, Nakae J, Okuhara K, Satoh K, Ishikawa T, Imai T, Fujieda K. Tajima T, et al. Among authors: nakae j. Endocr J. 2002 Feb;49(1):91-6. doi: 10.1507/endocrj.49.91. Endocr J. 2002. PMID: 12008755

7

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.

Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL. Tajima T, et al. Among authors: nakae j. J Clin Endocrinol Metab. 2001 Aug;86(8):3820-5. doi: 10.1210/jcem.86.8.7748. J Clin Endocrinol Metab. 2001. PMID: 11502818

8

Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.

Ishikawa Y, Tajima T, Nakae J, Nagashima T, Satoh K, Okuhara K, Fujieda K. Ishikawa Y, et al. Among authors: nakae j. J Hum Genet. 2001;46(7):426-30. doi: 10.1007/s100380170062. J Hum Genet. 2001. PMID: 11450852

9

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: nakae j. J Clin Endocrinol Metab. 2000 Dec;85(12):4690-4. doi: 10.1210/jcem.85.12.7078. J Clin Endocrinol Metab. 2000. PMID: 11134129

10

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: nakae j. Pediatr Res. 2000 Oct;48(4):536-40. doi: 10.1203/00006450-200010000-00019. Pediatr Res. 2000. PMID: 11004247

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