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Results: 1-15 |
Results: 15
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome
Authors: Heilstedt, HA Burgess, DL Anderson, AE Chedrawi, A Tharp, B Lee, O Kashork, CD Starkey, DE Wu, YQ Noebels, JL Shaffer, LG Shapira, SK
Citation: Ha. Heilstedt et al., Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome, EPILEPSIA, 42(9), 2001, pp. 1103-1111
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 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
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach
Authors: Ligon, AH Kashork, CD Richards, CS Shaffer, LG
Citation: Ah. Ligon et al., Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach, EUR J HUM G, 8(4), 2000, pp. 293-298
FISHing for mechanisms of cytogenetically defined terminal deletions usingchromosome-specific subtelomeric probes
Authors: Ballif, BC Kashork, CD Shaffer, LG
Citation: Bc. Ballif et al., FISHing for mechanisms of cytogenetically defined terminal deletions usingchromosome-specific subtelomeric probes, EUR J HUM G, 8(10), 2000, pp. 764-770
Characterization of human retinal fascin gene (FSCN2) at 17q25: Close physical linkage of fascin and cytoplasmic actin genes
Authors: Tubb, BE Bardien-Kruger, S Kashork, CD Shaffer, LG Ramagli, LS Xu, JP Siciliano, MJ Bryan, J
Citation: Be. Tubb et al., Characterization of human retinal fascin gene (FSCN2) at 17q25: Close physical linkage of fascin and cytoplasmic actin genes, GENOMICS, 65(2), 2000, pp. 146-156
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
Authors: Bacino, CA Kashork, CD Davino, NA Shaffer, LG
Citation: Ca. Bacino et al., Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes, AM J MED G, 92(4), 2000, pp. 250-255
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
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
Authors: Potocki, L Glaze, D Tan, DX Park, SS Kashork, CD Shaffer, LG Reiter, RJ Lupski, JR
Citation: L. Potocki et al., Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome, J MED GENET, 37(6), 2000, pp. 428-433
Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene
Authors: Li, DX Burch, P Gonzalez, O Kashork, CD Shaffer, LG Bachinski, LL Roberts, R
Citation: Dx. Li et al., Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene, BIOC BIOP R, 274(1), 2000, pp. 117-123
The promise and pitfalls of telomere region-specific probes
Authors: Ballif, BC Kashork, CD Shaffer, LG
Citation: Bc. Ballif et al., The promise and pitfalls of telomere region-specific probes, AM J HU GEN, 67(5), 2000, pp. 1356-1359
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization
Authors: Kashork, CD Lupski, JR Shaffer, LG
Citation: Cd. Kashork et al., Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization, PRENAT DIAG, 19(5), 1999, pp. 446-449
Caution: Telomere crossing
Authors: Shaffer, LG Kashork, CD Bacino, CA Benke, PJ
Citation: Lg. Shaffer et al., Caution: Telomere crossing, AM J MED G, 87(3), 1999, pp. 278-280
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci
Authors: Mutchinick, OM Shaffer, LG Kashork, CD Cervantes, EI
Citation: Om. Mutchinick et al., Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci, AM J MED G, 85(2), 1999, pp. 99-104
DNA rearrangements on both homologues of chromosome 17 in a mildly delayedindividual with a family history of autosomal dominant carpal tunnel syndrome
Authors: Potocki, L Chen, KS Koeuth, T Killian, J Iannaccone, ST Shapira, SK Kashork, CD Spikes, AS Shaffer, LG Lupski, JR
Citation: L. Potocki et al., DNA rearrangements on both homologues of chromosome 17 in a mildly delayedindividual with a family history of autosomal dominant carpal tunnel syndrome, AM J HU GEN, 64(2), 1999, pp. 471-478
Risultati: 1-15 |