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Results:
1-8
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Results: 8
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:
Mansour, S
Woffendin, H
Mitton, S
Jeffery, I
Jakins, T
Kenwrick, S
Murday, VA
Citation: S. Mansour et al., Rapid publication - Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection, AM J MED G, 99(2), 2001, pp. 172-177
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:
Woffendin, H
Esposito, T
Jakins, T
Bardaro, T
Stern, MH
Kenwrick, S
Citation: H. Woffendin et al., Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti, EUR J HUM G, 8(4), 2000, pp. 239-240
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:
Woffendin, H
Jakins, T
Jouet, M
Stewart, H
Landy, S
Haan, E
Harris, A
Donnai, D
Read, A
Kenwrick, S
Citation: H. Woffendin et al., X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation, CLIN GENET, 55(1), 1999, pp. 55-60
Risultati:
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