Goji K - Search Results

1

Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

Goji K, Nishijima E, Tsugawa C, Nishio H, Pokharel RK, Matsuo M. Goji K, et al. Hum Mutat. 1998;Suppl 1:S114-6. doi: 10.1002/humu.1380110138. Hum Mutat. 1998. PMID: 9452059 No abstract available.

2

Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.

Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M. Goji K, et al. J Clin Endocrinol Metab. 2006 Feb;91(2):365-70. doi: 10.1210/jc.2005-1776. Epub 2005 Nov 22. J Clin Endocrinol Metab. 2006. PMID: 16303832

3

Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S. Goji K, et al. J Clin Endocrinol Metab. 1998 Sep;83(9):3205-9. doi: 10.1210/jcem.83.9.5074. J Clin Endocrinol Metab. 1998. PMID: 9745427

4

Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy.

Katayama Y, Tran VK, Hoan NT, Zhang Z, Goji K, Yagi M, Takeshima Y, Saiki K, Nhan NT, Matsuo M. Katayama Y, et al. Among authors: goji k. Hum Genet. 2006 Jun;119(5):516-9. doi: 10.1007/s00439-006-0159-4. Epub 2006 Mar 10. Hum Genet. 2006. PMID: 16528518

5

Gonadotropin-independent precocious puberty associated with a somatic activating mutation of the LH receptor gene: detection of a mutation present in only a small fraction of cells from testicular tissue using wild-type blocking polymerase chain reaction and laser-capture microdissection.

Goji K, Teraoka Y, Hosokawa Y, Okuno M, Ozaki K, Yoshida M, Matsuo M. Goji K, et al. Endocrine. 2009 Jun;35(3):397-401. doi: 10.1007/s12020-009-9165-3. Epub 2009 Mar 12. Endocrine. 2009. PMID: 19280371

6

Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome?

Fu XJ, Nozu K, Goji K, Ikeda K, Kamioka I, Fujita T, Kaito H, Nishio H, Iijima K, Matsuo M. Fu XJ, et al. Among authors: goji k. Nephrol Dial Transplant. 2006 Oct;21(10):2959-62. doi: 10.1093/ndt/gfl328. Epub 2006 Jun 24. Nephrol Dial Transplant. 2006. PMID: 16799168 No abstract available.

7

A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.

Reuter AL, Goji K, Bingham NC, Matsuo M, Parker KL. Reuter AL, et al. Among authors: goji k. Eur J Endocrinol. 2007 Aug;157(2):233-8. doi: 10.1530/EJE-07-0113. Eur J Endocrinol. 2007. PMID: 17656604

8

Brief report: short stature caused by a mutant growth hormone.

Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K. Takahashi Y, et al. Among authors: goji k. N Engl J Med. 1996 Feb 15;334(7):432-6. doi: 10.1056/NEJM199602153340704. N Engl J Med. 1996. PMID: 8552145 Free article. No abstract available.

9

Short stature caused by a natural growth hormone antagonist.

Chihara K, Takahashi Y, Kaji H, Goji K, Okimura Y, Abe H. Chihara K, et al. Among authors: goji k. Horm Res. 1998;49 Suppl 1:41-5. doi: 10.1159/000053067. Horm Res. 1998. PMID: 9554469

10

A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.

Ikeda Y, Goji K, Takagi A. Ikeda Y, et al. Among authors: goji k. Clin Sci (Lond). 2000 Dec;99(6):569-78. Clin Sci (Lond). 2000. PMID: 11099402

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

31 results

Search Page

Filters