Mewborn SK - Search Results

1

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. Cardoso C, et al. Among authors: mewborn sk. Hum Mol Genet. 2000 Dec 12;9(20):3019-28. doi: 10.1093/hmg/9.20.3019. Hum Mol Genet. 2000. PMID: 11115846

2

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. Christian SL, et al. Among authors: mewborn sk. Hum Mol Genet. 1999 Jun;8(6):1025-37. doi: 10.1093/hmg/8.6.1025. Hum Mol Genet. 1999. PMID: 10332034

3

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Matsumoto N, et al. Among authors: mewborn sk. Eur J Hum Genet. 2001 Jan;9(1):5-12. doi: 10.1038/sj.ejhg.5200548. Eur J Hum Genet. 2001. PMID: 11175293

4

Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.

Fantes JA, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH. Fantes JA, et al. Among authors: mewborn sk. J Med Genet. 2002 Mar;39(3):170-7. doi: 10.1136/jmg.39.3.170. J Med Genet. 2002. PMID: 11897815 Free PMC article.

5

The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.

Mewborn SK, Lese Martin C, Ledbetter DH. Mewborn SK, et al. Cytogenet Genome Res. 2005;108(1-3):22-5. doi: 10.1159/000080798. Cytogenet Genome Res. 2005. PMID: 15545712 Review.

6

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM. Puckelwartz MJ, et al. Among authors: mewborn sk. Hum Mol Genet. 2009 Feb 15;18(4):607-20. doi: 10.1093/hmg/ddn386. Epub 2008 Nov 13. Hum Mol Genet. 2009. PMID: 19008300 Free PMC article.

7

Nesprin-1 mutations in human and murine cardiomyopathy.

Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM. Puckelwartz MJ, et al. Among authors: mewborn sk. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. doi: 10.1016/j.yjmcc.2009.11.006. Epub 2009 Nov 24. J Mol Cell Cardiol. 2010. PMID: 19944109 Free PMC article.

8

Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.

Mewborn SK, Puckelwartz MJ, Abuisneineh F, Fahrenbach JP, Zhang Y, MacLeod H, Dellefave L, Pytel P, Selig S, Labno CM, Reddy K, Singh H, McNally E. Mewborn SK, et al. PLoS One. 2010 Dec 14;5(12):e14342. doi: 10.1371/journal.pone.0014342. PLoS One. 2010. PMID: 21179469 Free PMC article.

9

Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle.

Allikian MJ, Hack AA, Mewborn S, Mayer U, McNally EM. Allikian MJ, et al. J Cell Sci. 2004 Aug 1;117(Pt 17):3821-30. doi: 10.1242/jcs.01234. Epub 2004 Jul 13. J Cell Sci. 2004. PMID: 15252120

10

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM. Dellefave LM, et al. Circ Cardiovasc Genet. 2009 Oct;2(5):442-9. doi: 10.1161/CIRCGENETICS.109.861955. Epub 2009 Jul 24. Circ Cardiovasc Genet. 2009. PMID: 20031619 Clinical Trial.

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