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Results: 1-9 |
Results: 9
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
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
Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti
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
Sixteen type I loci from six human chromosomes were comparatively fluorescence in-situ mapped to river buffalo (Bubalus bubalis) and sheep (Ovis aries) chromosomes
Authors: Iannuzzi, L Di Meo, GP Perucatti, A Schibler, L Incarnato, D Ferrara, L Bardaro, T Cribiu, EP
Citation: L. Iannuzzi et al., Sixteen type I loci from six human chromosomes were comparatively fluorescence in-situ mapped to river buffalo (Bubalus bubalis) and sheep (Ovis aries) chromosomes, CHROMOS RES, 8(5), 2000, pp. 447-450
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
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta7-sterol reductase in Italy and report of three novel mutations
Authors: 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
Citation: D. De Brasi et al., Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta7-sterol reductase in Italy and report of three novel mutations, EUR J HUM G, 7(8), 1999, pp. 937-940
ZOO-FISH and R-banding reveal extensive conservation of human chromosome regions in euchromatic regions of river buffalo chromosomes
Authors: Iannuzzi, L Di Meo, GP Perucatti, A Bardaro, T
Citation: L. Iannuzzi et al., ZOO-FISH and R-banding reveal extensive conservation of human chromosome regions in euchromatic regions of river buffalo chromosomes, CYTOG C GEN, 82(3-4), 1998, pp. 210-214
Risultati: 1-9 |