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Results: 1-11 |
Results: 11
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
Authors: Sohocki, MM Daiger, SP Bowne, SJ Rodriguez, JA Northrup, H Heckenlively, JR Birch, DG Mintz-Hittner, H Ruiz, RS Lewis, RA Saperstein, DA Sullivan, LS
Citation: Mm. Sohocki et al., Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies, HUM MUTAT, 17(1), 2001, pp. 42-51
A novel missense mutation in the GTPase activating protein homology regionof TSC2 in two large families with tuberous sclerosis complex
Authors: Khare, L Strizheva, GD Bailey, JN Au, KS Northrup, H Smith, M Smalley, SL Henske, EP
Citation: L. Khare et al., A novel missense mutation in the GTPase activating protein homology regionof TSC2 in two large families with tuberous sclerosis complex, J MED GENET, 38(5), 2001, pp. 347-349
The generation and characterization of a cell line derived from a sporadicrenal angiomyolipoma - Use of telomerase to obtain stable populations of cells from benign neoplasms
Authors: Arbiser, JL Yeung, R Weiss, SW Arbiser, ZK Amin, MB Cohen, C Frank, D Mahajan, S Herron, GS Yang, JW Onda, H Zhang, HB Bai, XH Uhlmann, E Loehr, A Northrup, H Au, P Davis, I Fisher, DE Gutmann, DH
Citation: Jl. Arbiser et al., The generation and characterization of a cell line derived from a sporadicrenal angiomyolipoma - Use of telomerase to obtain stable populations of cells from benign neoplasms, AM J PATH, 159(2), 2001, pp. 483-491
Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability
Authors: Volcik, KA Blanton, SH Northrup, H
Citation: Ka. Volcik et al., Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability, AM J HU GEN, 69(5), 2001, pp. 1150-1152
Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics
Authors: Volcik, KA Blanton, SH Tyerman, GH Jong, ST Rott, EJ Page, TZ Romaine, NK Northrup, H
Citation: Ka. Volcik et al., Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics, AM J MED G, 95(1), 2000, pp. 21-27
Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis
Authors: Astrinidis, A Khare, L Carsillo, T Smolarek, T Au, KS Northrup, H Henske, EP
Citation: A. Astrinidis et al., Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis, J MED GENET, 37(1), 2000, pp. 55-57
Hydrocephalus
Authors: Fletcher, JM Dennis, M Northrup, H
Citation: Jm. Fletcher et al., Hydrocephalus, SCI PRACT N, 2000, pp. 25-46
Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation
Authors: Roach, ES DiMario, FJ Kandt, RS Northrup, H
Citation: Es. Roach et al., Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation, J CHILD NEU, 14(6), 1999, pp. 401-407
Complete inactivation of the TSC2 gene leads to formation of hamartomas
Authors: Au, KS Hebert, AA Roach, ES Northrup, H
Citation: Ks. Au et al., Complete inactivation of the TSC2 gene leads to formation of hamartomas, AM J HU GEN, 65(6), 1999, pp. 1790-1795
Germ-line mosaicism in tuberous sclerosis: How common?
Authors: Rose, VM Au, KS Pollom, G Roach, ES Prashner, HR Northrup, H
Citation: Vm. Rose et al., Germ-line mosaicism in tuberous sclerosis: How common?, AM J HU GEN, 64(4), 1999, pp. 986-992
Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
Authors: Roach, ES Gomez, MR Northrup, H
Citation: Es. Roach et al., Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria, J CHILD NEU, 13(12), 1998, pp. 624-628
Risultati: 1-11 |