Hauser MA - Search Results

1

A novel mutation in the gene encoding noggin is not causative in human neural tube defects.

Bauer KA, George TM, Enterline DS, Stottmann RW, Melvin EC, Siegel D, Samal S, Hauser MA, Klingensmith J, Nye JS, Speer MC; Neural Tube Defects Collaborative Group. Bauer KA, et al. Among authors: hauser ma. J Neurogenet. 2002 Jan-Mar;16(1):65-71. J Neurogenet. 2002. PMID: 12420790

2

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Hauser MA, et al. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653

3

myotilin Mutation found in second pedigree with LGMD1A.

Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. Hauser MA, et al. Am J Hum Genet. 2002 Dec;71(6):1428-32. doi: 10.1086/344532. Epub 2002 Nov 11. Am J Hum Genet. 2002. PMID: 12428213 Free PMC article.

4

Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.

Oliveira SA, Scott WK, Zhang F, Stajich JM, Fujiwara K, Hauser M, Scott BL, Pericak-Vance MA, Vance JM, Martin ER. Oliveira SA, et al. Among authors: hauser m. Neurogenetics. 2004 Sep;5(3):147-55. doi: 10.1007/s10048-004-0180-5. Epub 2004 Jun 8. Neurogenetics. 2004. PMID: 15459824

5

Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.

Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M, Ellenbogen RG, Milhorat TH, Hauser MA, George TM. Speer MC, et al. Among authors: hauser ma. J Genet Couns. 2003 Aug;12(4):297-311. doi: 10.1023/A:1023948921381. J Genet Couns. 2003. PMID: 26141174

6

Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.

Challa P, Hauser MA, Luna CC, Freedman SF, Pericak-Vance M, Yang J, McDonald MT, Allingham RR. Challa P, et al. Among authors: hauser ma. Mol Vis. 2006 Aug 28;12:1009-15. Mol Vis. 2006. PMID: 16971892 Free article.

7

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.

Challa P, Herndon LW, Hauser MA, Broomer BW, Pericak-Vance MA, Ababio-Danso B, Allingham RR. Challa P, et al. Among authors: hauser ma. J Glaucoma. 2002 Oct;11(5):416-20. doi: 10.1097/00061198-200210000-00008. J Glaucoma. 2002. PMID: 12362081

8

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA. Garvey SM, et al. Among authors: hauser ma. Ann Hum Genet. 2006 May;70(Pt 3):414-6. doi: 10.1111/j.1529-8817.2005.00252.x. Ann Hum Genet. 2006. PMID: 16674563

9

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, Pasquale LR, Pericak-Vance M, Realini A, Schuman JS, Singh K, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Young T, Allingham RR, Wiggs JL, Ashley-Koch A, Hauser MA. Ulmer M, et al. Among authors: hauser ma. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468-74. doi: 10.1167/iovs.12-9784. Invest Ophthalmol Vis Sci. 2012. PMID: 22661486 Free PMC article.

10

Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.

Liu Y, Allingham RR, Qin X, Layfield D, Dellinger AE, Gibson J, Wheeler J, Ashley-Koch AE, Stamer WD, Hauser MA. Liu Y, et al. Among authors: hauser ma. Invest Ophthalmol Vis Sci. 2013 Sep 27;54(9):6382-9. doi: 10.1167/iovs.13-12128. Invest Ophthalmol Vis Sci. 2013. PMID: 24003086 Free PMC article.

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