Leppig KA - Search Results

1

Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype.

Clement SJ, Leppig KA, Jarvik GP, Kapur RP, Norwood TH. Clement SJ, et al. Among authors: leppig ka. Am J Med Genet. 1996 Oct 28;65(3):197-204. doi: 10.1002/(SICI)1096-8628(19961028)65:3<197::AID-AJMG5>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 9240743

2

Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.

Leppig KA, Brown CJ, Bressler SL, Gustashaw K, Pagon RA, Willard HF, Disteche CM. Leppig KA, et al. Hum Mol Genet. 1993 Jul;2(7):883-7. doi: 10.1093/hmg/2.7.883. Hum Mol Genet. 1993. PMID: 8364571

3

The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.

Leppig KA, Viskochil D, Neil S, Rubenstein A, Johnson VP, Zhu XL, Brothman AR, Stephens K. Leppig KA, et al. Cytogenet Cell Genet. 1996;72(1):95-8. doi: 10.1159/000134171. Cytogenet Cell Genet. 1996. PMID: 8565646

4

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.

Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K. Leppig KA, et al. Am J Med Genet. 1997 Dec 12;73(2):197-204. doi: 10.1002/(sici)1096-8628(1997)73:2<197::aid-ajmg17>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409873

5

Familial cryptic (20;21) translocation identified by in situ hybridization technologies.

Leppig KA, Ball S, Au K, Opheim KE, Norwood T. Leppig KA, et al. Am J Med Genet. 2000 Aug 14;93(4):273-7. doi: 10.1002/1096-8628(20000814)93:4<273::aid-ajmg4>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10946352

6

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC, Leppig KA. Parisi MA, et al. Among authors: leppig ka. Am J Med Genet. 2002 Feb 15;108(1):51-6. doi: 10.1002/ajmg.10185. Am J Med Genet. 2002. PMID: 11857550

7

Phenotype and X inactivation in 45,X/46,X,r(X) cases.

Leppig KA, Sybert VP, Ross JL, Cunniff C, Trejo T, Raskind WH, Disteche CM. Leppig KA, et al. Am J Med Genet A. 2004 Jul 30;128A(3):276-84. doi: 10.1002/ajmg.a.30002. Am J Med Genet A. 2004. PMID: 15216549

8

Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.

Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA. Click ES, et al. Among authors: leppig ka. Am J Med Genet A. 2011 Jul;155A(7):1673-9. doi: 10.1002/ajmg.a.34024. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626672

9

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.

Fullerton SM, Wolf WA, Brothers KB, Clayton EW, Crawford DC, Denny JC, Greenland P, Koenig BA, Leppig KA, Lindor NM, McCarty CA, McGuire AL, McPeek Hinz ER, Mirel DB, Ramos EM, Ritchie MD, Smith ME, Waudby CJ, Burke W, Jarvik GP. Fullerton SM, et al. Among authors: leppig ka. Genet Med. 2012 Apr;14(4):424-31. doi: 10.1038/gim.2012.15. Epub 2012 Feb 23. Genet Med. 2012. PMID: 22361898 Free PMC article.

10

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.

Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS; eMERGE Network. Gottesman O, et al. Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Genet Med. 2013. PMID: 23743551 Free PMC article. Review.

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