Lewis RA - Search Results

1

Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance.

Craigen WJ, Levy ML, Lewis RA. Craigen WJ, et al. Among authors: lewis ra. Am J Med Genet. 1997 Aug 8;71(2):186-8. doi: 10.1002/(sici)1096-8628(19970808)71:2<186::aid-ajmg12>3.0.co;2-a. Am J Med Genet. 1997. PMID: 9217219

2

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. Wang LL, et al. Among authors: lewis ra. Am J Med Genet. 2001 Jul 22;102(1):11-7. doi: 10.1002/1096-8628(20010722)102:1<11::aid-ajmg1413>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11471165

3

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL. Parrish JE, et al. Among authors: lewis ra. Hum Mol Genet. 1996 Nov;5(11):1777-83. doi: 10.1093/hmg/5.11.1777. Hum Mol Genet. 1996. PMID: 8923006

4

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).

Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israël A, Nelson DL. Aradhya S, et al. Among authors: lewis ra. Am J Hum Genet. 2001 Mar;68(3):765-71. doi: 10.1086/318806. Epub 2001 Feb 8. Am J Hum Genet. 2001. PMID: 11179023 Free PMC article.

5

De novo mutation in three families with multigenerational incontinentia pigmenti.

Scheuerle A, Lewis RA, Levy ML, Nelson DL. Scheuerle A, et al. Among authors: lewis ra. Am J Hum Genet. 1994 Dec;55(6):1279-81. Am J Hum Genet. 1994. PMID: 7977389 Free PMC article. No abstract available.

6

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Kirchman TT, Levy ML, Lewis RA, Kanzler MH, Nelson DL, Scheuerle AE. Kirchman TT, et al. Among authors: lewis ra. J Med Genet. 1995 Nov;32(11):887-90. doi: 10.1136/jmg.32.11.887. J Med Genet. 1995. PMID: 8592334 Free PMC article.

7

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL. Aradhya S, et al. Among authors: lewis ra. Hum Mol Genet. 2001 Sep 15;10(19):2171-9. doi: 10.1093/hmg/10.19.2171. Hum Mol Genet. 2001. PMID: 11590134

8

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson DL, Levy M, Lewis RA; International IP Consortium. Kenwrick S, et al. Among authors: lewis ra. Am J Hum Genet. 2001 Dec;69(6):1210-7. doi: 10.1086/324591. Epub 2001 Oct 22. Am J Hum Genet. 2001. PMID: 11673821 Free PMC article.

9

Bilateral macular lesions in incontinentia pigmenti.

Levy ML, Lewis RA. Levy ML, et al. Among authors: lewis ra. Retina. 1996;16(4):348-52. Retina. 1996. PMID: 8865402 No abstract available.

10

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Smahi A, et al. Among authors: lewis ra. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543

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