Leppig KA - Search Results

1

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JM, et al. Dahan K, et al. Among authors: leppig ka. Kidney Int. 1995 Dec;48(6):1900-6. doi: 10.1038/ki.1995.489. Kidney Int. 1995. PMID: 8587250 Free article.

2

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.

Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD, Leppig KA, Proesmans W, Guyot C, Guillot M, et al. Heidet L, et al. Among authors: leppig ka. Hum Mol Genet. 1995 Jan;4(1):99-108. doi: 10.1093/hmg/4.1.99. Hum Mol Genet. 1995. PMID: 7711741

3

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

4

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P. Karolak JA, et al. Among authors: leppig ka. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639323 Free PMC article.

5

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.

6

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

7

Phenotypic correlations of ocular coloboma without known cause.

Leppig KA, Pagon RA. Leppig KA, et al. Clin Dysmorphol. 1993 Oct;2(4):322-31. Clin Dysmorphol. 1993. PMID: 8305963 Review.

8

Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.

Raff ML, Leppig KA, Rutledge JC, Weinberger E, Pagon RA. Raff ML, et al. Among authors: leppig ka. Clin Dysmorphol. 1998 Jan;7(1):29-34. Clin Dysmorphol. 1998. PMID: 9546827

9

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

10

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

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