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Results: 1-25 | 26-50 | 51-54
Results: 1-25/54
Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy
Authors: Takashima, H Boerkoel, CF Lupski, JR
Citation: H. Takashima et al., Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy, GENET MED, 3(5), 2001, pp. 335-342
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
Authors: Stankiewicz, P Park, SS Inoue, K Lupski, JR
Citation: P. Stankiewicz et al., The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP, GENOME RES, 11(7), 2001, pp. 1205-1210
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
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
Authors: Shroyer, NF Lewis, RA Yatsenko, AN Wensel, TG Lupski, JR
Citation: Nf. Shroyer et al., Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration, HUM MOL GEN, 10(23), 2001, pp. 2671-2678
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
Regional localization of 10 mariner transposon-like ESTs by means of FISH - evidence for a correlation with fragile sites
Authors: Liehr, T Reiter, LT Lupski, JR Murakami, T Claussen, U Rautenstrauss, B
Citation: T. Liehr et al., Regional localization of 10 mariner transposon-like ESTs by means of FISH - evidence for a correlation with fragile sites, MAMM GENOME, 12(4), 2001, pp. 326-328
Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement
Authors: Inoue, K Tanaka, H Scaglia, F Araki, A Shaffer, LG Lupski, JR
Citation: K. Inoue et al., Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement, ANN NEUROL, 50(6), 2001, pp. 747-754
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
Authors: Liburd, N Ghosh, M Riazuddin, S Naz, S Khan, S Ahmed, Z Riazuddin, S Liang, Y Menon, PSN Smith, T Smith, ACM Chen, KS Lupski, JR Wilcox, ER Potocki, L Friedman, TB
Citation: N. Liburd et al., Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome, HUM GENET, 109(5), 2001, pp. 535-541
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
Authors: Yatsenko, AN Shroyer, NF Lewis, RA Lupski, JR
Citation: An. Yatsenko et al., Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4), HUM GENET, 108(4), 2001, pp. 346-355
Defining the breakpoints of proximal chromosome 14q rearrangements in ninepatients using flow-sorted chromosomes
Authors: Kamnasaran, D O'Brien, PCM Schuffenhauer, S Quarrell, O Lupski, JR Grammatico, P Ferguson-Smith, MA Cox, DW
Citation: D. Kamnasaran et al., Defining the breakpoints of proximal chromosome 14q rearrangements in ninepatients using flow-sorted chromosomes, AM J MED G, 102(2), 2001, pp. 173-182
Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa
Authors: Shroyer, NF Lewis, RA Yatsenko, AN Lupski, JR
Citation: Nf. Shroyer et al., Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa, INV OPHTH V, 42(12), 2001, pp. 2757-2761
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
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype
Authors: Stankiewicz, P Park, SS Holder, SE Waters, CS Palmer, RW Berend, SA Shaffer, LG Potocki, L Lupski, JR
Citation: P. Stankiewicz et al., Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype, CLIN GENET, 60(5), 2001, pp. 336-344
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
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome
Authors: Stockton, DW Meade, RA Netscher, DT Epstein, MJ Shenaq, SM Shaffer, LG Lupski, JR
Citation: Dw. Stockton et al., Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome, ARCH NEUROL, 58(10), 2001, pp. 1635-1637
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: Is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?
Authors: Shroyer, NF Lewis, RA Lupski, JR
Citation: Nf. Shroyer et al., Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: Is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?, AM J OPHTH, 131(6), 2001, pp. 759-760
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: Is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?
Authors: Shroyer, NF Lewis, RA Lupski, JR
Citation: Nf. Shroyer et al., Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: Is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?, AM J OPHTH, 131(6), 2001, pp. 761-766
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
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
Authors: Boerkoel, CF Takashima, H Stankiewicz, P Garcia, CA Leber, SM Rhee-Morris, L Lupski, JR
Citation: Cf. Boerkoel et al., Periaxin mutations cause recessive Dejerine-Sottas neuropathy, AM J HU GEN, 68(2), 2001, pp. 325-333
Macular degeneration: The emerging genetics
Authors: Lewis, RA Lupski, JR
Citation: Ra. Lewis et Jr. Lupski, Macular degeneration: The emerging genetics, HOSP PRACT, 35(6), 2000, pp. 41
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
Molecular mechanism for duplication 17p11.2 - the homologous recombinationreciprocal of the Smith-Magenis microdeletion
Authors: Potocki, L Chen, KS Park, SS Osterholm, DE Withers, MA Kimonis, V Summers, AM Meschino, WS Anyane-Yeboa, K Kashork, CD Shaffer, LG Lupski, JR
Citation: L. Potocki et al., Molecular mechanism for duplication 17p11.2 - the homologous recombinationreciprocal of the Smith-Magenis microdeletion, NAT GENET, 24(1), 2000, pp. 84-87
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus (vol 9, pg 367, 2000)
Authors: Bejjani, BA Stockton, DW Lewis, RA Tomey, KF Dueker, DK Jabak, M Astle, WF Lupski, JR
Citation: Ba. Bejjani et al., Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus (vol 9, pg 367, 2000), HUM MOL GEN, 9(7), 2000, pp. 1141-1141
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