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Results: 1-13 |
Results: 13
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
Authors: Delaunoy, JP Abidi, F Zeniou, M Jacquot, S Merienne, K Pannetier, S Schmitt, M Schwartz, CE Hanauer, A
Citation: Jp. Delaunoy et al., Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome, HUM MUTAT, 17(2), 2001, pp. 103-116
Topology of a human equilibrative, nitrobenzylthioinosine (NBMPR)-sensitive nucleoside transporter (hENT1) implicated in the cellular uptake of adenosine and anti-cancer drugs
Authors: Sundaram, M Yao, SYM Ingram, JC Berry, ZA Abidi, F Cass, CE Baldwin, SA Young, JD
Citation: M. Sundaram et al., Topology of a human equilibrative, nitrobenzylthioinosine (NBMPR)-sensitive nucleoside transporter (hENT1) implicated in the cellular uptake of adenosine and anti-cancer drugs, J BIOL CHEM, 276(48), 2001, pp. 45270-45275
Penetrance of mutations in the familial Wilms tumor gene FWT1
Authors: Rahman, N Arbour, L Houlston, R Bonaiti-Pellie, C Abidi, F Tranchemontagne, J Ford, D Narod, S Pritchard-Jones, K Foulkes, WD Schwartz, C Stratton, MR
Citation: N. Rahman et al., Penetrance of mutations in the familial Wilms tumor gene FWT1, J NAT CANC, 92(8), 2000, pp. 650-652
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome
Authors: Stevenson, RE Abidi, F Schwartz, CE Lubs, HA Holmes, LB
Citation: Re. Stevenson et al., Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome, AM J MED G, 94(5), 2000, pp. 383-385
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families
Authors: Lossi, AM Colleaux, L Chiaroni, P Fontes, M Villard, L Abidi, F Schwartz, C Briault, S Moraine, C
Citation: Am. Lossi et al., Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families, AM J MED G, 94(5), 2000, pp. 386-388
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
Authors: Cabezas, DA Slaugh, R Abidi, F Arena, JF Stevenson, RE Schwartz, CE Lubs, HA
Citation: Da. Cabezas et al., A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25, J MED GENET, 37(9), 2000, pp. 663-668
Purification and characterization of a growth factor-like which increases capillary permeability from Vipera lebetina venom
Authors: Gasmi, A Abidi, F Srairi, N Oijatayer, A Karoui, H Elayeb, P
Citation: A. Gasmi et al., Purification and characterization of a growth factor-like which increases capillary permeability from Vipera lebetina venom, BIOC BIOP R, 268(1), 2000, pp. 69-72
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)
Authors: Abidi, F Jacquot, S Lassiter, C Trivier, E Hanauer, A Schwartz, CE
Citation: F. Abidi et al., Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS), EUR J HUM G, 7(1), 1999, pp. 20-26
X-linked mental retardation with variable stature, head circumference, andtesticular volume linked to Xq12-q21
Authors: Abidi, F Hall, BD Cadle, RG Feldman, GL Lubs, HA Ouzts, LV Arena, JF Stevenson, RE Schwartz, CE
Citation: F. Abidi et al., X-linked mental retardation with variable stature, head circumference, andtesticular volume linked to Xq12-q21, AM J MED G, 85(3), 1999, pp. 223-229
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28
Authors: Lubs, H Abidi, F Bier, JAB Abuelo, D Ouzts, L Voeller, K Fennell, E Stevenson, RE Schwartz, CE Arena, F
Citation: H. Lubs et al., XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28, AM J MED G, 85(3), 1999, pp. 243-248
Carpenter-Waziri syndrome results from a mutation in XNP
Authors: Abidi, F Schwartz, CE Carpenter, NJ Villard, L Fontes, M Curtis, M
Citation: F. Abidi et al., Carpenter-Waziri syndrome results from a mutation in XNP, AM J MED G, 85(3), 1999, pp. 249-251
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
Authors: Villard, L Bonino, MC Abidi, F Ragusa, A Belougne, J Lossi, AM Seaver, L Bonnefont, JP Romano, C Fichera, M Lacombe, D Hanauer, A Philip, N Schwartz, C Fontes, M
Citation: L. Villard et al., Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome, J MED GENET, 36(3), 1999, pp. 183-186
Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypiccharacteristics of Wilms' tumour attributable to FWT1
Authors: Rahman, N Abidi, F Ford, D Arbour, L Rapley, E Tonin, P Barton, D Batcup, G Berry, J Cotter, F Davison, V Gerrard, M Gray, E Grundy, R Hanafy, M King, D Lewis, I Luethy, AR Madlensky, L Mann, J O'Meara, A Oakhill, T Skolnick, M Strong, L Variend, D Narod, S Schwartz, C Pritchard-Jones, K Stratton, MR
Citation: N. Rahman et al., Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypiccharacteristics of Wilms' tumour attributable to FWT1, HUM GENET, 103(5), 1998, pp. 547-556
Risultati: 1-13 |