Alvarado DM - Search Results

1

Genome-wide association study identifies new disease loci for isolated clubfoot.

Zhang TX, Haller G, Lin P, Alvarado DM, Hecht JT, Blanton SH, Stephens Richards B, Rice JP, Dobbs MB, Gurnett CA. Zhang TX, et al. Among authors: alvarado dm. J Med Genet. 2014 May;51(5):334-9. doi: 10.1136/jmedgenet-2014-102303. Epub 2014 Mar 25. J Med Genet. 2014. PMID: 24667120

2

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA. Alvarado DM, et al. Am J Hum Genet. 2010 Jul 9;87(1):154-60. doi: 10.1016/j.ajhg.2010.06.010. Am J Hum Genet. 2010. PMID: 20598276 Free PMC article.

3

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.

Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB. Alvarado DM, et al. J Bone Joint Surg Am. 2011 Jun 1;93(11):1045-50. doi: 10.2106/JBJS.J.02004. J Bone Joint Surg Am. 2011. PMID: 21531865 Free PMC article.

4

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.

Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA. Alvarado DM, et al. Hum Mol Genet. 2011 Oct 15;20(20):3943-52. doi: 10.1093/hmg/ddr313. Epub 2011 Jul 20. Hum Mol Genet. 2011. PMID: 21775501 Free PMC article.

5

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.

Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA. Alvarado DM, et al. Eur J Hum Genet. 2013 Apr;21(4):373-80. doi: 10.1038/ejhg.2012.177. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892537 Free PMC article.

6

BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma.

Dahiya S, Haydon DH, Alvarado D, Gurnett CA, Gutmann DH, Leonard JR. Dahiya S, et al. Acta Neuropathol. 2013 Jun;125(6):901-10. doi: 10.1007/s00401-013-1120-y. Epub 2013 Apr 23. Acta Neuropathol. 2013. PMID: 23609006

7

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.

Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA. Ha K, et al. Among authors: alvarado dm. Hum Mol Genet. 2013 Dec 15;22(24):4967-77. doi: 10.1093/hmg/ddt344. Epub 2013 Jul 19. Hum Mol Genet. 2013. PMID: 23873045 Free PMC article.

8

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.

Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA. Alvarado DM, et al. Nucleic Acids Res. 2014 Jun;42(10):e82. doi: 10.1093/nar/gku218. Epub 2014 Mar 20. Nucleic Acids Res. 2014. PMID: 24682816 Free PMC article.

9

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, Ng BK, Cheng JC, Dobbs MB, Gurnett CA. Buchan JG, et al. Among authors: alvarado dm. Hum Mol Genet. 2014 Oct 1;23(19):5271-82. doi: 10.1093/hmg/ddu224. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833718 Free PMC article.

10

Are copy number variants associated with adolescent idiopathic scoliosis?

Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA. Buchan JG, et al. Among authors: alvarado dm. Clin Orthop Relat Res. 2014 Oct;472(10):3216-25. doi: 10.1007/s11999-014-3766-8. Epub 2014 Jul 9. Clin Orthop Relat Res. 2014. PMID: 25005481 Free PMC article.

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