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Items: 1 to 20 of 245

1.

A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

Shimizu A, Asakawa S, Sasaki T, Yamazaki S, Yamagata H, Kudoh J, Minoshima S, Kondo I, Shimizu N.

Biochem Biophys Res Commun. 2003 Sep 12;309(1):143-54.

PMID:
12943675
2.

Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy.

Sano A, Mikami M, Nakamura M, Ueno S, Tanabe H, Kaneko S.

Epilepsia. 2002;43 Suppl 9:26-31.

PMID:
12383276
3.

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Kohl S, Baumann B, Broghammer M, J├Ągle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.

Hum Mol Genet. 2000 Sep 1;9(14):2107-16.

6.

Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A.

Ganesh S, Amano K, Delgado-Escueta AV, Yamakawa K.

Biochem Biophys Res Commun. 1999 Apr 2;257(1):24-8.

PMID:
10092504
7.

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

Scott DA, Drury S, Sundstrom RA, Bishop J, Swiderski RE, Carmi R, Ramesh A, Elbedour K, Srikumari Srisailapathy CR, Keats BJ, Sheffield VC, Smith RJ.

Gene. 2000 Apr 4;246(1-2):265-74.

PMID:
10767548
8.

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.

Yamakawa K, Mitchell S, Hubert R, Chen XN, Colbern S, Huo YK, Gadomski C, Kim UJ, Korenberg JR.

Hum Mol Genet. 1995 Apr;4(4):709-16.

PMID:
7633421
9.

PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression.

Hogan MC, Griffin MD, Rossetti S, Torres VE, Ward CJ, Harris PC.

Hum Mol Genet. 2003 Mar 15;12(6):685-98.

10.

Spinesin/TMPRSS5, a novel transmembrane serine protease, cloned from human spinal cord.

Yamaguchi N, Okui A, Yamada T, Nakazato H, Mitsui S.

J Biol Chem. 2002 Mar 1;277(9):6806-12. Epub 2001 Dec 12.

11.

Activation of transcriptional activities of AP1 and SRE by a novel zinc finger protein ZNF445.

Luo K, Yuan J, Shan Y, Li J, Xu M, Cui Y, Tang W, Wan B, Zhang N, Wu Y, Yu L.

Gene. 2006 Feb 15;367:89-100. Epub 2005 Dec 20.

PMID:
16368201
12.

Transcript map of the 8p23 putative tumor suppressor region.

Sun PC, Uppaluri R, Schmidt AP, Pashia ME, Quant EC, Sunwoo JB, Gollin SM, Scholnick SB.

Genomics. 2001 Jul;75(1-3):17-25.

PMID:
11472063
13.

Identification of novel candidate genes in the diffuse panbronchiolitis critical region of the class I human MHC.

Matsuzaka Y, Tounai K, Denda A, Tomizawa M, Makino S, Okamoto K, Keicho N, Oka A, Kulski JK, Tamiya G, Inoko H.

Immunogenetics. 2002 Aug;54(5):301-9. Epub 2002 Jul 9.

PMID:
12185533
14.

Identification and characterization of human BCL9L gene and mouse Bcl9l gene in silico.

Katoh M, Katoh M.

Int J Mol Med. 2003 Oct;12(4):643-9.

PMID:
12964048
15.
16.

Identification of strain-specific variants of mouse Adamts13 gene encoding von Willebrand factor-cleaving protease.

Banno F, Kaminaka K, Soejima K, Kokame K, Miyata T.

J Biol Chem. 2004 Jul 16;279(29):30896-903. Epub 2004 May 10.

17.
18.

Molecular cloning, expression and chromosomal localization of a novel human REG family gene, REG III.

Nata K, Liu Y, Xu L, Ikeda T, Akiyama T, Noguchi N, Kawaguchi S, Yamauchi A, Takahashi I, Shervani NJ, Onogawa T, Takasawa S, Okamoto H.

Gene. 2004 Sep 29;340(1):161-70.

PMID:
15556304
19.

A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein.

Suzuki T, Ganesh S, Agarwala KL, Morita R, Sugimoto Y, Inazawa J, Delgado-Escueta AV, Yamakawa K.

Biochem Biophys Res Commun. 2001 Nov 2;288(3):626-36.

PMID:
11676489
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