Hims MM - Search Results

1

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Keen TJ, et al. Among authors: hims mm. Eur J Hum Genet. 2002 Apr;10(4):245-9. doi: 10.1038/sj.ejhg.5200797. Eur J Hum Genet. 2002. PMID: 12032732

2

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: hims mm. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

3

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Bowne SJ, et al. Among authors: hims mm. Hum Mol Genet. 1999 Oct;8(11):2121-8. doi: 10.1093/hmg/8.11.2121. Hum Mol Genet. 1999. PMID: 10484783 Free PMC article.

4

Retinitis pigmentosa: genes, proteins and prospects.

Hims MM, Diager SP, Inglehearn CF. Hims MM, et al. Dev Ophthalmol. 2003;37:109-25. doi: 10.1159/000072042. Dev Ophthalmol. 2003. PMID: 12876833 Review.

5

PCR-based methods for identification of species of the Anopheles minimus group: allele-specific amplification and single-strand conformation polymorphism.

Sharpe RG, Hims MM, Harbach RE, Butlin RK. Sharpe RG, et al. Among authors: hims mm. Med Vet Entomol. 1999 Jul;13(3):265-73. doi: 10.1046/j.1365-2915.1999.00178.x. Med Vet Entomol. 1999. PMID: 10514052

6

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Among authors: hims mm. Hum Mol Genet. 2004 Feb 15;13(4):429-36. doi: 10.1093/hmg/ddh046. Epub 2004 Jan 6. Hum Mol Genet. 2004. PMID: 14709595

7

Specific correction of a splice defect in brain by nutritional supplementation.

Shetty RS, Gallagher CS, Chen YT, Hims MM, Mull J, Leyne M, Pickel J, Kwok D, Slaugenhaupt SA. Shetty RS, et al. Among authors: hims mm. Hum Mol Genet. 2011 Nov 1;20(21):4093-101. doi: 10.1093/hmg/ddr333. Epub 2011 Aug 5. Hum Mol Genet. 2011. PMID: 21821670 Free PMC article.

8

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.

Ibrahim EC, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R. Ibrahim EC, et al. Among authors: hims mm. Hum Mutat. 2007 Jan;28(1):41-53. doi: 10.1002/humu.20401. Hum Mutat. 2007. PMID: 16964593

9

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA. Hims MM, et al. J Mol Med (Berl). 2007 Feb;85(2):149-61. doi: 10.1007/s00109-006-0137-2. Epub 2007 Jan 6. J Mol Med (Berl). 2007. PMID: 17206408

10

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA. Hims MM, et al. Genomics. 2007 Sep;90(3):389-96. doi: 10.1016/j.ygeno.2007.05.012. Epub 2007 Jul 17. Genomics. 2007. PMID: 17644305 Free PMC article.

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