Bardaro T - Search Results

1

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G. De Brasi D, et al. Among authors: bardaro t. Eur J Hum Genet. 1999 Dec;7(8):937-40. doi: 10.1038/sj.ejhg.5200390. Eur J Hum Genet. 1999. PMID: 10602371

2

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.

Aradhya S, Bardaro T, Galgóczy P, Yamagata T, Esposito T, Patlan H, Ciccodicola A, Munnich A, Kenwrick S, Platzer M, D'Urso M, Nelson DL. Aradhya S, et al. Among authors: bardaro t. Hum Mol Genet. 2001 Oct 15;10(22):2557-67. doi: 10.1093/hmg/10.22.2557. Hum Mol Genet. 2001. PMID: 11709543

3

Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti.

Woffendin H, Esposito T, Jakins T, Bardaro T, Stern MH, Kenwrick S. Woffendin H, et al. Among authors: bardaro t. Eur J Hum Genet. 2000 Apr;8(4):239-40. doi: 10.1038/sj.ejhg.5200454. Eur J Hum Genet. 2000. PMID: 10854103 No abstract available.

4

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: bardaro t. Hum Mol Genet. 2001 Sep 15;10(19):2171-9. doi: 10.1093/hmg/10.19.2171. Hum Mol Genet. 2001. PMID: 11590134

5

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: bardaro t. 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.

6

Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.

Aradhya S, Nelson DL, Heiss NS, Poustka A, Woffendin H, Kenwrick S, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Smahi A, Munnich A, Herman GE, Lewis RA. Aradhya S, et al. Among authors: bardaro t. Am J Med Genet. 2000 Mar 20;91(3):241-4. doi: 10.1002/(sici)1096-8628(20000320)91:3<241::aid-ajmg19>3.0.co;2-j. Am J Med Genet. 2000. PMID: 10756353 No abstract available.

7

Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.

Aradhya S, Ahobila P, Lewis RA, Nelson DL, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Woffendin H, Kenwrick S, Smahi A, Heuertz S, Munnich A, Heiss NS, Poustka A, Chishti AH. Aradhya S, et al. Among authors: bardaro t. Am J Med Genet. 2000 Sep 4;94(1):79-84. doi: 10.1002/1096-8628(20000904)94:1<79::aid-ajmg17>3.0.co;2-m. Am J Med Genet. 2000. PMID: 10982489 No abstract available.

8

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: bardaro t. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543

9

Incontinentia pigmenti with NEMO mutation in a Turkish family.

Silan F, Aydogan I, Kavak A, Bardaro T, D'Urso M. Silan F, et al. Among authors: bardaro t. Int J Dermatol. 2004 Jul;43(7):527-9. doi: 10.1111/j.1365-4632.2004.02156.x. Int J Dermatol. 2004. PMID: 15230896 No abstract available.

10

[Incontinencia pigmenti associated with Klinefelter's syndrome].

Lorda-Sánchez I, de Paula M, Bardaro T, Martín R, Villegas C, Ayuso C. Lorda-Sánchez I, et al. Among authors: bardaro t. An Esp Pediatr. 2001 Aug;55(2):177-8. An Esp Pediatr. 2001. PMID: 11472677 Spanish. No abstract available.

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