AAAAAA

   
Results: 1-12 |
Results: 12
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
Authors: Katsanis, N Ansley, SJ Badano, JL Eichers, ER Lewis, RA Hoskins, BE Scambler, PJ Davidson, WS Beales, PL Lupski, JR
Citation: N. Katsanis et al., Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder, SCIENCE, 293(5538), 2001, pp. 2256-2259
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic archdefects in mice
Authors: Lindsay, EA Vitelli, F Su, H Morishima, M Huynh, T Pramparo, T Jurecic, V Ogunrinu, G Sutherland, HF Scambler, PJ Bradley, A Baldini, A
Citation: Ea. Lindsay et al., Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic archdefects in mice, NATURE, 410(6824), 2001, pp. 97-101
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN
Authors: Bacchelli, C Goodman, FR Scambler, PJ Winter, RM
Citation: C. Bacchelli et al., Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN, CLIN GENET, 59(3), 2001, pp. 203-205
Human HOX gene mutations
Authors: Goodman, FR Scambler, PJ
Citation: Fr. Goodman et Pj. Scambler, Human HOX gene mutations, CLIN GENET, 59(1), 2001, pp. 1-11
The 22q11 deletion syndromes
Authors: Scambler, PJ
Citation: Pj. Scambler, The 22q11 deletion syndromes, HUM MOL GEN, 9(16), 2000, pp. 2421-2426
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci
Authors: Berend, SA Spikes, AS Kashork, CD Wu, JM Daw, SC Scambler, PJ Shaffer, LG
Citation: Sa. Berend et al., Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci, AM J MED G, 91(4), 2000, pp. 313-317
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia
Authors: Robertson, SP Shears, DJ Oei, P Winter, RM Scambler, PJ Aftimos, S Savarirayan, R
Citation: Sp. Robertson et al., Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia, J MED GENET, 37(12), 2000, pp. 959-964
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
Authors: Goodman, FR Bacchelli, C Brady, AF Brueton, LA Fryns, JP Mortlock, DP Innis, JW Holmes, LB Donnenfeld, AE Feingold, M Beemer, FA Hennekam, RCM Scambler, PJ
Citation: Fr. Goodman et al., Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome, AM J HU GEN, 67(1), 2000, pp. 197-202
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse
Authors: Kimber, WL Hsieh, P Hirotsune, S Yuva-Paylor, L Sutherland, HF Chen, A Ruiz-Lozano, P Hoogstraten-Miller, SL Chien, KR Paylor, R Scambler, PJ Wynshaw-Boris, A
Citation: Wl. Kimber et al., Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse, HUM MOL GEN, 8(12), 1999, pp. 2229-2237
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families
Authors: Wang, J Spitz, L Hayward, R Kiely, E Hall, CM O'Donoghue, DP Palmer, R Goodman, FR Scambler, PJ Winter, RM Reardon, W
Citation: J. Wang et al., Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families, EUR J PED, 158(11), 1999, pp. 902-905
Genetics - Engineering a broken heart
Authors: Scambler, PJ
Citation: Pj. Scambler, Genetics - Engineering a broken heart, NATURE, 401(6751), 1999, pp. 335-337
Hemizygosity of chromosome 22q11 and human birth defects
Authors: Scambler, PJ
Citation: Pj. Scambler, Hemizygosity of chromosome 22q11 and human birth defects, BIOM HLTH R, 23, 1998, pp. 463-475
Risultati: 1-12 |