Keating MT - Search Results

1

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.

Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Pröschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT. Frangiskakis JM, et al. Among authors: keating mt. Cell. 1996 Jul 12;86(1):59-69. doi: 10.1016/s0092-8674(00)80077-x. Cell. 1996. PMID: 8689688 Free article.

2

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. Curran ME, et al. Among authors: keating mt. Cell. 1995 Mar 10;80(5):795-803. doi: 10.1016/0092-8674(95)90358-5. Cell. 1995. PMID: 7889573 Free article.

3

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.

Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. Curran ME, et al. Among authors: keating mt. Cell. 1993 Apr 9;73(1):159-68. doi: 10.1016/0092-8674(93)90168-p. Cell. 1993. PMID: 8096434

4

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. Ewart AK, et al. Among authors: keating mt. Nat Genet. 1993 Sep;5(1):11-6. doi: 10.1038/ng0993-11. Nat Genet. 1993. PMID: 7693128

5

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR. Lowery MC, et al. Am J Hum Genet. 1995 Jul;57(1):49-53. Am J Hum Genet. 1995. PMID: 7611295 Free PMC article.

6

A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

Ewart AK, Morris CA, Ensing GJ, Loker J, Moore C, Leppert M, Keating M. Ewart AK, et al. Proc Natl Acad Sci U S A. 1993 Apr 15;90(8):3226-30. doi: 10.1073/pnas.90.8.3226. Proc Natl Acad Sci U S A. 1993. PMID: 8475063 Free PMC article.

7

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. Morris CA, et al. Among authors: keating mt. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496. Am J Med Genet A. 2003. PMID: 14556246

8

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.

Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. Wang Q, et al. Among authors: keating mt. Cell. 1995 Mar 10;80(5):805-11. doi: 10.1016/0092-8674(95)90359-3. Cell. 1995. PMID: 7889574 Free article.

9

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT. Ewart AK, et al. Among authors: keating mt. J Clin Invest. 1994 Mar;93(3):1071-7. doi: 10.1172/JCI117057. J Clin Invest. 1994. PMID: 8132745 Free PMC article.

10

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT. Li DY, et al. Among authors: keating mt. Hum Mol Genet. 1997 Jul;6(7):1021-8. doi: 10.1093/hmg/6.7.1021. Hum Mol Genet. 1997. PMID: 9215670

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