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Results: 1-8 |
Results: 8
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
Authors: Aradhya, S Bardaro, T Galgoczy, P Yamagata, T Esposito, T Patlan, H Ciccodicola, A Munnich, A Kenwrick, S Platzer, M D'Urso, M Nelson, DL
Citation: S. Aradhya et al., Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes, HUM MOL GEN, 10(22), 2001, pp. 2557-2567
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
Authors: 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
Citation: S. Aradhya et al., A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations, HUM MOL GEN, 10(19), 2001, pp. 2171-2179
NF-kappa B signaling and human disease
Authors: Aradhya, S Nelson, DL
Citation: S. Aradhya et Dl. Nelson, NF-kappa B signaling and human disease, CUR OP GEN, 11(3), 2001, pp. 300-306
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
Authors: 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
Citation: S. Kenwrick et al., Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome, AM J HU GEN, 69(6), 2001, pp. 1210-1217
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)
Authors: Aradhya, S Courtois, G Rajkovic, A Lewis, RA Levy, M Israel, A Nelson, DL
Citation: S. Aradhya et al., Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma), AM J HU GEN, 68(3), 2001, pp. 765-771
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2
Authors: 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
Citation: S. Aradhya et al., Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2, AM J MED G, 94(1), 2000, pp. 79-84
Human homologue of the murine Bare patches/Striated gene is not mutated inIncontinentia Pigmenti type 2
Authors: 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
Citation: S. Aradhya et al., Human homologue of the murine Bare patches/Striated gene is not mutated inIncontinentia Pigmenti type 2, AM J MED G, 91(3), 2000, pp. 241-244
Mutation analysis of the DKC1 gene in incontinentia pigmenti
Authors: Heiss, NS Poustka, A Knight, SW Aradhya, S Nelson, DL Lewis, RA Esposito, T Ciccodicola, A D'Urso, M Smahi, A Heuertz, S Munnich, A Vabres, P Woffendin, H Kenwrick, S
Citation: Ns. Heiss et al., Mutation analysis of the DKC1 gene in incontinentia pigmenti, J MED GENET, 36(11), 1999, pp. 860-862
Risultati: 1-8 |