Leppig KA - Search Results

1

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

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

DNA deletion associated with hereditary neuropathy with liability to pressure palsies.

Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. Chance PF, et al. Among authors: leppig ka. Cell. 1993 Jan 15;72(1):143-51. doi: 10.1016/0092-8674(93)90058-x. Cell. 1993. PMID: 8422677

4

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

5

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

6

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

7

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L. Parisi MA, et al. Among authors: leppig ka. J Med Genet. 2001 Jan;38(1):52-8. doi: 10.1136/jmg.38.1.52. J Med Genet. 2001. PMID: 11332402 Free PMC article. No abstract available.

8

Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.

Leppig KA, Disteche CM. Leppig KA, et al. Semin Reprod Med. 2001 Jun;19(2):147-57. doi: 10.1055/s-2001-15395. Semin Reprod Med. 2001. PMID: 11480912 Review.

9

Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors.

Laurino MY, Bennett RL, Saraiya DS, Baumeister L, Doyle DL, Leppig K, Pettersen B, Resta R, Shields L, Uhrich S, Varga EA, Raskind WH. Laurino MY, et al. J Genet Couns. 2005 Jun;14(3):165-81. doi: 10.1007/s10897-005-3241-5. J Genet Couns. 2005. PMID: 15959648

10

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: leppig ka. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.

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