Adachi M - Search Results

1

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.

Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M. Asakura Y, et al. Among authors: adachi m. J Clin Endocrinol Metab. 2008 Mar;93(3):920-4. doi: 10.1210/jc.2007-1419. Epub 2007 Dec 18. J Clin Endocrinol Metab. 2008. PMID: 18089695

2

Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia.

Nishimura G, Okada T, Tachibana K, Adachi M, Masuno M, Imaizumi K, Aida N. Nishimura G, et al. Among authors: adachi m. Eur J Pediatr. 1997 Aug;156(8):631-5. doi: 10.1007/s004310050680. Eur J Pediatr. 1997. PMID: 9266196

3

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.

Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y. Masuno M, et al. Among authors: adachi m. Am J Med Genet. 1999 May 7;84(1):8-11. doi: 10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10213038

4

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.

5

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

6

Shinkai M, Ohhama Y, Nishi T, Yamamoto H, Fujita S, Take H, Adachi M, Tachibana K, Aida N, Kato K, Tanaka Y, Takemiya S, Tanaka K. Shinkai M, et al. Among authors: adachi m. Transplant Proc. 2000 Nov;32(7):2184. doi: 10.1016/s0041-1345(00)01626-2. Transplant Proc. 2000. PMID: 11120124 No abstract available.

7

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

8

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

9

Congenital absence of the portal vein and role of liver transplantation in children.

Shinkai M, Ohhama Y, Nishi T, Yamamoto H, Fujita S, Take H, Adachi M, Tachibana K, Aida N, Kato K, Tanaka Y, Takemiya S. Shinkai M, et al. Among authors: adachi m. J Pediatr Surg. 2001 Jul;36(7):1026-31. doi: 10.1053/jpsu.2001.24731. J Pediatr Surg. 2001. PMID: 11431769

10

Graves' disease in patients with 22q11.2 deletion.

Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn DM. Kawame H, et al. Among authors: adachi m. J Pediatr. 2001 Dec;139(6):892-5. doi: 10.1067/mpd.2001.119448. J Pediatr. 2001. PMID: 11743521

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

2,201 results

Search Page

Filters