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Results: 1-12 |
Results: 12
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
Authors: Inoue, K Dewar, K Katsanis, N Reiter, LT Lander, ES Devon, KL Wyman, DW Lupski, JR Birren, B
Citation: K. Inoue et al., The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes, GENOME RES, 11(6), 2001, pp. 1018-1033
An evaluation of the draft human genome sequence
Authors: Katsanis, N Worley, KC Lupski, JR
Citation: N. Katsanis et al., An evaluation of the draft human genome sequence, NAT GENET, 29(1), 2001, pp. 88-91
Exploring the molecular basis of Bardet-Biedl syndrome
Authors: Katsanis, N Lupski, JR Beales, PL
Citation: N. Katsanis et al., Exploring the molecular basis of Bardet-Biedl syndrome, HUM MOL GEN, 10(20), 2001, pp. 2293-2299
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
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1
Authors: Katsanis, N Shroyer, NF Lewis, RA Cavender, JC Al-Rajhi, AA Jabak, M Lupski, JR
Citation: N. Katsanis et al., Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1, CLIN GENET, 59(6), 2001, pp. 424-429
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type IA duplication diagnosis
Authors: Badano, JL Inoue, K Katsanis, N Lupski, JR
Citation: Jl. Badano et al., New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type IA duplication diagnosis, CLIN CHEM, 47(5), 2001, pp. 838-843
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohortreveal a minor involvement of BBS6 and delineate the critical intervals ofother loci
Authors: Beales, PL Katsanis, N Lewis, RA Ansley, SJ Elcioglu, N Raza, J Woods, MO Green, JS Parfrey, PS Davidson, WS Lupski, JR
Citation: Pl. Beales et al., Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohortreveal a minor involvement of BBS6 and delineate the critical intervals ofother loci, AM J HU GEN, 68(3), 2001, pp. 606-616
Mutations in MKKS cause obesity, retinal dystrophy and renal malformationsassociated with Bardet-Biedl syndrome
Authors: Katsanis, N Beales, PL Woods, MO Lewis, RA Green, JS Parfrey, PS Ansley, SJ Davidson, WS Lupski, JR
Citation: N. Katsanis et al., Mutations in MKKS cause obesity, retinal dystrophy and renal malformationsassociated with Bardet-Biedl syndrome, NAT GENET, 26(1), 2000, pp. 67-70
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13
Authors: Katsanis, N Venable, S Smith, JR Lupski, JR
Citation: N. Katsanis et al., Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13, HUM GENET, 106(1), 2000, pp. 66-72
Identification of novel genes expressed during metanephric induction through single-cell library screening
Authors: Abidari, JM Gonzales, ET Inoue, K Lupski, JR Karsenty, G Katsanis, N
Citation: Jm. Abidari et al., Identification of novel genes expressed during metanephric induction through single-cell library screening, KIDNEY INT, 57(6), 2000, pp. 2221-2228
High-resolution comparative physical mapping of mouse Chromosome 10 in theregion of homology with human Chromosome 21
Authors: Cole, SE Wiltshire, T Rue, EE Morrow, D Hieter, P Brahe, C Fisher, EM Katsanis, N Reeves, RH
Citation: Se. Cole et al., High-resolution comparative physical mapping of mouse Chromosome 10 in theregion of homology with human Chromosome 21, MAMM GENOME, 10(3), 1999, pp. 229-234
Delineation of the critical interval of Bardet-Biedl Syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
Authors: Katsanis, N Lewis, RA Stockton, DW Mai, PMT Baird, L Beales, PL Leppert, M Lupski, JR
Citation: N. Katsanis et al., Delineation of the critical interval of Bardet-Biedl Syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees, AM J HU GEN, 65(6), 1999, pp. 1672-1679
Risultati: 1-12 |