Kosaki K - Search Results

1

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Kubo A, et al. Among authors: kosaki r, kosaki k. Am J Hum Genet. 2013 Nov 7;93(5):945-56. doi: 10.1016/j.ajhg.2013.09.015. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207119 Free PMC article.

2

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G, Casey B. Kosaki K, et al. Among authors: kosaki r. Am J Hum Genet. 1999 Mar;64(3):712-21. doi: 10.1086/302289. Am J Hum Genet. 1999. PMID: 10053005 Free PMC article.

3

Isoform-specific imprinting of the human PEG1/MEST gene.

Kosaki K, Kosaki R, Craigen WJ, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Am J Hum Genet. 2000 Jan;66(1):309-12. doi: 10.1086/302712. Am J Hum Genet. 2000. PMID: 10631159 Free PMC article. No abstract available.

4

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Yoshihashi H, et al. Among authors: kosaki r, kosaki k. Am J Hum Genet. 2000 Aug;67(2):476-82. doi: 10.1086/302997. Epub 2000 Jun 12. Am J Hum Genet. 2000. PMID: 10856193 Free PMC article.

5

Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.

Kosaki K, Yoshihashi H, Ohashi Y, Kosaki R, Suzuki T, Matsuo N. Kosaki K, et al. Among authors: kosaki r. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):111-9. doi: 10.1016/s0165-022x(00)00157-3. J Biochem Biophys Methods. 2001. PMID: 11179767

6

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder.

Kosaki K, Suzuki T, Kosaki R, Yoshihashi H, Itoh M, Goto Y, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Mol Psychiatry. 2001 Jan;6(1):87-91. doi: 10.1038/sj.mp.4000799. Mol Psychiatry. 2001. PMID: 11244491

7

Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.

Maeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K. Maeyama K, et al. Among authors: kosaki r, kosaki k. Teratology. 2001 Mar;63(3):119-26. doi: 10.1002/tera.1022. Teratology. 2001. PMID: 11283968

8

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.

Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Clin Genet. 2001 Oct;60(4):314-5. doi: 10.1034/j.1399-0004.2001.600411.x. Clin Genet. 2001. PMID: 11683779 No abstract available.

9

Micropenis and the AR Gene: mutation and CAG repeat-length analysis.

Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N. Ishii T, et al. Among authors: kosaki k. J Clin Endocrinol Metab. 2001 Nov;86(11):5372-8. doi: 10.1210/jcem.86.11.7999. J Clin Endocrinol Metab. 2001. PMID: 11701709 Clinical Trial.

10

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Hasegawa T, Takahashi T, Matsuo N, Kosaki K. Fujita H, et al. Among authors: kosaki r, kosaki k. Teratology. 2002 Jan;65(1):10-8. doi: 10.1002/tera.1093. Teratology. 2002. PMID: 11835227

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