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Results: 1-20 |
Results: 20
Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYSS gene
Authors: Praphanphoj, V Sacksteder, KA Gould, SJ Thomas, GH Geraghty, MT
Citation: V. Praphanphoj et al., Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYSS gene, MOL GEN MET, 72(4), 2001, pp. 336-342
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
Authors: Li, M Shuman, C Fei, YL Cutiongco, E Bender, HA Stevens, C Wilkins-Haug, L Day-Salvatore, D Yong, SL Geraghty, MT Squire, J Weksberg, R
Citation: M. Li et al., GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome, AM J MED G, 102(2), 2001, pp. 161-168
Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser
Authors: Hoover-Fong, JE Geraghty, MT Raymond, GV Thomas, GH
Citation: Je. Hoover-fong et al., Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser, J INH MET D, 24(3), 2001, pp. 415-416
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
Authors: Praphanphoj, V Goodman, BK Thomas, GH Niel, KM Toomes, C Dixon, MJ Geraghty, MT
Citation: V. Praphanphoj et al., Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), GENOMICS, 65(1), 2000, pp. 67-69
Ocular histopathologic study of a patient with the T 8993-G point mutationin Leigh's syndrome
Authors: Hayashi, N Geraghty, MT Green, WR
Citation: N. Hayashi et al., Ocular histopathologic study of a patient with the T 8993-G point mutationin Leigh's syndrome, OPHTHALMOL, 107(7), 2000, pp. 1397-1402
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)
Authors: Cargile, CB McIntosh, I Clough, MV Rutberg, J Yaghmai, R Goodman, BK Chen, XN Korenberg, JR Thomas, GH Geraghty, MT
Citation: Cb. Cargile et al., Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12), AM J MED G, 92(5), 2000, pp. 328-335
Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome
Authors: Goodman, BK Rutberg, J Lin, WW Pulver, AE Thomas, GH Geraghty, MT
Citation: Bk. Goodman et al., Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome, J INH MET D, 23(8), 2000, pp. 847-848
Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
Authors: Praphanproj, V Boyadjiev, SA Waber, LJ Brusilow, SW Geraghty, MT
Citation: V. Praphanproj et al., Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia, J INH MET D, 23(2), 2000, pp. 129-136
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia
Authors: Sacksteder, KA Biery, BJ Morrell, JC Goodman, BK Geisbrecht, BV Cox, RP Gould, SJ Geraghty, MT
Citation: Ka. Sacksteder et al., Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia, AM J HU GEN, 66(6), 2000, pp. 1736-1743
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Authors: Marsh, DJ Kum, JB Lunetta, KL Bennett, MJ Gorlin, RJ Ahmed, SF Bodurtha, J Crowe, C Curtis, MA Dasouki, M Dunn, T Feit, H Geraghty, MT Graham, JM Hodgson, SV Hunter, A Korf, BR Manchester, D Miesfeldt, S Murday, VA Nathanson, KL Parisi, M Pober, B Romano, C Tolmie, JL Trembath, R Winter, RM Zackai, EH Zori, RT Weng, LP Dahia, PLM Eng, C
Citation: Dj. Marsh et al., PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome, HUM MOL GEN, 8(8), 1999, pp. 1461-1472
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ''complete ring" syndrome
Authors: Sigurdardottir, S Goodman, BK Rutberg, J Thomas, GH Jabs, EW Geraghty, MT
Citation: S. Sigurdardottir et al., Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ''complete ring" syndrome, AM J MED G, 87(5), 1999, pp. 384-390
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
Authors: White, SL Shanske, S McGill, JJ Mountain, H Geraghty, MT DiMauro, S Dahl, HHM Thorburn, DR
Citation: Sl. White et al., Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation, J INH MET D, 22(8), 1999, pp. 899-914
Detecting patterns of protein distribution and gene expression in silico
Authors: Geraghty, MT Bassett, D Morrell, JC Gatto, GJ Bai, JW Geisbrecht, BV Hieter, P Gould, SJ
Citation: Mt. Geraghty et al., Detecting patterns of protein distribution and gene expression in silico, P NAS US, 96(6), 1999, pp. 2937-2942
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome
Authors: Rowe, PC Barron, DF Calkins, H Maumenee, IH Tong, PY Geraghty, MT
Citation: Pc. Rowe et al., Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome, J PEDIAT, 135(4), 1999, pp. 494-499
Ehlers-Danlos syndrome
Authors: Rowe, PC Barron, DF Calkins, H Maumenee, IH Tong, PY Geraghty, MT
Citation: Pc. Rowe et al., Ehlers-Danlos syndrome, J PEDIAT, 135(4), 1999, pp. 513-513
Identification of peroxisomal acyl-CoA thioesterases in yeast and humans
Authors: Jones, JM Nau, K Geraghty, MT Erdmann, R Gould, SJ
Citation: Jm. Jones et al., Identification of peroxisomal acyl-CoA thioesterases in yeast and humans, J BIOL CHEM, 274(14), 1999, pp. 9216-9223
Preliminary characterization of Yor180Cp: Identification of a novel peroxisomal protein of Saccharomyces cerevisiae involved in fatty acid metabolism
Authors: Geisbrecht, BV Schulz, K Nau, K Geraghty, MT Schulz, H Erdmann, R Gould, SJ
Citation: Bv. Geisbrecht et al., Preliminary characterization of Yor180Cp: Identification of a novel peroxisomal protein of Saccharomyces cerevisiae involved in fatty acid metabolism, BIOC BIOP R, 260(1), 1999, pp. 28-34
Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding
Authors: Hanley, WB Platt, LD Bachman, RP Buist, N Geraghty, MT Isaacs, J O'Flynn, ME Rhead, WJ Seidlitz, G Tishler, B
Citation: Wb. Hanley et al., Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding, AM J OBST G, 180(4), 1999, pp. 986-994
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families
Authors: Goodman, BK Shaffer, LG Rutberg, J Leppert, M Harum, K Gagos, S Ray, JH Bialer, MG Zhou, XT Pletcher, BA Shapira, SK Geraghty, MT
Citation: Bk. Goodman et al., Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families, AM J MED G, 80(4), 1998, pp. 377-384
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome
Authors: Montgomery, RA Geraghty, MT Bull, E Gelb, BD Johnson, M McIntosh, I Francomano, CA Dietz, HC
Citation: Ra. Montgomery et al., Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome, AM J HU GEN, 63(6), 1998, pp. 1703-1711
Risultati: 1-20 |