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Results: 1-8 |
Results: 8
A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster
Authors: Reiter, LT Potocki, L Chien, S Gribskov, M Bier, E
Citation: Lt. Reiter et al., A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster, GENOME RES, 11(6), 2001, pp. 1114-1125
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
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
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
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
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
Authors: Wu, YQ Badano, JL McCaskill, C Vogel, H Potocki, L Shaffer, LG
Citation: Yq. Wu et al., Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome, AM J HU GEN, 67(5), 2000, pp. 1327-1332
Subunit 3 of the COP9 signal transduction complex is conserved from plantsto humans and maps within the Smith-Magenis syndrome critical region in 17p11.2
Authors: Potocki, L Chen, KS Lupski, JR
Citation: L. Potocki et al., Subunit 3 of the COP9 signal transduction complex is conserved from plantsto humans and maps within the Smith-Magenis syndrome critical region in 17p11.2, GENOMICS, 57(1), 1999, pp. 180-182
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: 1-8 |