Yoshiura K - Search Results

1

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Among authors: yoshiura k. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.

2

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K. Kondoh S, et al. Among authors: yoshiura k. J Hum Genet. 2002;47(3):136-9. doi: 10.1007/s100380200015. J Hum Genet. 2002. PMID: 11954550

3

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K. Komatsu K, et al. Among authors: yoshiura k. J Hum Genet. 2002;47(8):395-9. doi: 10.1007/s100380200057. J Hum Genet. 2002. PMID: 12181639

4

Phenotype-genotype correlation in two patients with 12q proximal deletion.

Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: yoshiura k. J Hum Genet. 2004;49(5):282-4. doi: 10.1007/s10038-004-0144-5. J Hum Genet. 2004. PMID: 15362574

5

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies.

Nomura M, Hamasaki YI, Katayama I, Abe K, Niikawa N, Yoshiura KI. Nomura M, et al. Among authors: yoshiura ki. J Hum Genet. 2005;50(9):483-489. doi: 10.1007/s10038-005-0282-4. Epub 2005 Sep 20. J Hum Genet. 2005. PMID: 16172808

6

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.

Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, Yoshiura KI. Ichikawa E, et al. J Hum Genet. 2006;51(1):38-46. doi: 10.1007/s10038-005-0319-8. Epub 2005 Oct 25. J Hum Genet. 2006. PMID: 16247549

7

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.

Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura KI, Niikawa N. Kikuchi T, et al. Among authors: yoshiura ki. J Hum Genet. 2007;52(4):334-341. doi: 10.1007/s10038-007-0116-7. Epub 2007 Feb 14. J Hum Genet. 2007. PMID: 17387577

8

A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.

Miura K, Yoshiura K, Miura S, Shimada T, Yamasaki K, Yoshida A, Nakayama D, Shibata Y, Niikawa N, Masuzaki H. Miura K, et al. Among authors: yoshiura k. Hum Genet. 2007 Jun;121(5):631-3. doi: 10.1007/s00439-007-0356-9. Epub 2007 Mar 30. Hum Genet. 2007. PMID: 17394018

9

A Japanese patient with a mild Lenz-Majewski syndrome.

Dateki S, Kondoh T, Nishimura G, Motomura K, Yoshiura KI, Kinoshita A, Kuniba H, Koga Y, Moriuchi H. Dateki S, et al. Among authors: yoshiura ki. J Hum Genet. 2007;52(8):686-689. doi: 10.1007/s10038-007-0165-y. Epub 2007 Jun 26. J Hum Genet. 2007. PMID: 17593321

10

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.

Nakashima M, Nakano M, Hirano A, Kishino T, Kondoh S, Miwa N, Niikawa N, Yoshiura KI. Nakashima M, et al. J Hum Genet. 2008;53(1):34-41. doi: 10.1007/s10038-007-0214-6. Epub 2007 Nov 7. J Hum Genet. 2008. PMID: 17987257

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