Jin H - Search Results

1

Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

Jin H, Webster AD, Vihinen M, Sideras P, Vorechovsky I, Hammarstróm L, Bernatowska-Matuszkiewicz E, Smith CI, Bobrow M, Vetrie D. Jin H, et al. Hum Mol Genet. 1995 Apr;4(4):693-700. doi: 10.1093/hmg/4.4.693. Hum Mol Genet. 1995. PMID: 7633420

2

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. Jin H, et al. Nat Genet. 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177. Nat Genet. 1996. PMID: 8841189

3

Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci.

Sideras P, Müller S, Shiels H, Jin H, Khan WN, Nilsson L, Parkinson E, Thomas JD, Brandén L, Larsson I, et al. Sideras P, et al. Among authors: jin h. J Immunol. 1994 Dec 15;153(12):5607-17. J Immunol. 1994. PMID: 7989760

4

A complete YAC contig and cosmid interval map covering the entirety of human Xq21.33 to Xq22.3 from DXS3 to DXS287.

Kendall E, Evans W, Jin H, Holland J, Vetrie D. Kendall E, et al. Among authors: jin h. Genomics. 1997 Jul 15;43(2):171-82. doi: 10.1006/geno.1997.4795. Genomics. 1997. PMID: 9244434

5

The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins.

Jin H, Kendall E, Freeman TC, Roberts RG, Vetrie DL. Jin H, et al. Genomics. 1999 Nov 1;61(3):259-67. doi: 10.1006/geno.1999.5966. Genomics. 1999. PMID: 10552927

6

Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.

Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG. Jin H, et al. Eur J Hum Genet. 2000 Feb;8(2):87-94. doi: 10.1038/sj.ejhg.5200415. Eur J Hum Genet. 2000. PMID: 10757639

7

The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms.

Jin H, Tan S, Hermanowski J, Böhm S, Pacheco S, McCauley JM, Greener MJ, Hinits Y, Hughes SM, Sharpe PT, Roberts RG. Jin H, et al. BMC Genomics. 2007 Jan 17;8:19. doi: 10.1186/1471-2164-8-19. BMC Genomics. 2007. PMID: 17233888 Free PMC article.

8

Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat.

Böhm SV, Constantinou P, Tan S, Jin H, Roberts RG. Böhm SV, et al. Among authors: jin h. BMC Biol. 2009 Dec 4;7:85. doi: 10.1186/1741-7007-7-85. BMC Biol. 2009. PMID: 19961569 Free PMC article.

9

Structural evolution of the BRCA1 genomic region in primates.

Jin H, Selfe J, Whitehouse C, Morris JR, Solomon E, Roberts RG. Jin H, et al. Genomics. 2004 Dec;84(6):1071-82. doi: 10.1016/j.ygeno.2004.08.019. Genomics. 2004. PMID: 15533724

10

Dystrobrevin and dystrophin family gene expression in zebrafish.

Böhm S, Jin H, Hughes SM, Roberts RG, Hinits Y. Böhm S, et al. Among authors: jin h. Gene Expr Patterns. 2008 Jan;8(2):71-8. doi: 10.1016/j.modgep.2007.10.004. Epub 2007 Oct 24. Gene Expr Patterns. 2008. PMID: 18042440 Free PMC article.

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