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Results:
1-9
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Results: 9
Authors:
Courtois, G
Smahi, A
Israel, A
Citation: G. Courtois et al., NEMO/IKK gamma: Linking NF-kappa B to human disease, TRENDS MO M, 7(10), 2001, pp. 427-430
Authors:
Doffinger, R
Smahi, A
Bessia, C
Geissmann, F
Feinberg, J
Durandy, A
Bodemer, C
Kenwrick, S
Dupuis-Girod, S
Blanche, S
Wood, P
Rabia, SH
Headon, DJ
Overbeek, PA
Le Deist, F
Holland, SM
Belani, K
Kumararatne, DS
Fischer, A
Shapiro, R
Conley, ME
Reimund, E
Kalhoff, H
Abinun, M
Munnich, A
Israel, A
Courtois, G
Casanova, JL
Citation: R. Doffinger et al., X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling, NAT GENET, 27(3), 2001, pp. 277-285
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
Authors:
Siffroi, JP
Benzacken, B
Angelopoulou, R
Le Bourhis, C
Berthaut, I
Kanafani, S
Smahi, A
Wolf, JP
Dadoune, JP
Citation: Jp. Siffroi et al., Alternative centromeric inactivation in a pseudodicentric t(Y;13) (q12;p 11.2) translocation chromosome associated with extreme oligozoospermia, J MED GENET, 38(11), 2001, pp. 802-806
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
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
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
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
Authors:
Cabot, A
Rozet, JM
Gerber, S
Perrault, I
Ducroq, D
Smahi, A
Souied, E
Munnich, A
Kaplan, J
Citation: A. Cabot et al., A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3, AM J HU GEN, 64(4), 1999, pp. 1141-1146
Risultati:
1-9
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