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Results: 1-13 |
Results: 13
Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis
Authors: Yu, J Astrinidis, A Henske, EP
Citation: J. Yu et al., Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis, AM J R CRIT, 164(8), 2001, pp. 1537-1540
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis
Authors: Strizheva, GD Carsillo, T Kruger, WD Sullivan, EJ Ryu, JH Henske, EP
Citation: Gd. Strizheva et al., The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis, AM J R CRIT, 163(1), 2001, pp. 253-258
Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers
Authors: White, R Hua, Y Scheithauer, B Lynch, DR Henske, EP Crino, PB
Citation: R. White et al., Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers, ANN NEUROL, 49(1), 2001, pp. 67-78
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
Pulmonary lymphangioleiomyomatosis in a man
Authors: Aubry, MC Myers, JL Ryu, JH Henske, EP Logginidou, H Jalal, SM Tazelaar, HD
Citation: Mc. Aubry et al., Pulmonary lymphangioleiomyomatosis in a man, AM J R CRIT, 162(2), 2000, pp. 749-752
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis
Authors: Carsillo, T Astrinidis, A Henske, EP
Citation: T. Carsillo et al., Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis, P NAS US, 97(11), 2000, pp. 6085-6090
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
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis
Authors: Logginidou, H Ao, X Russo, I Henske, EP
Citation: H. Logginidou et al., Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis, CHEST, 117(1), 2000, pp. 25-30
Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues
Authors: Gutmann, DH Zhang, YJ Hasbani, MJ Goldberg, MP Plank, TL Henske, EP
Citation: Dh. Gutmann et al., Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues, ACT NEUROP, 99(3), 2000, pp. 223-230
Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys
Authors: Henske, EP Thorner, P Patterson, K Zhuang, ZP Bernstein, J
Citation: Ep. Henske et al., Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys, PEDIATR D P, 2(3), 1999, pp. 270-274
The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas
Authors: Plank, TL Logginidou, H Klein-Szanto, A Henske, EP
Citation: Tl. Plank et al., The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas, MOD PATHOL, 12(5), 1999, pp. 539-545
New developments in the neurobiology of the tuberous sclerosis complex
Authors: Crino, PB Henske, EP
Citation: Pb. Crino et Ep. Henske, New developments in the neurobiology of the tuberous sclerosis complex, NEUROLOGY, 53(7), 1999, pp. 1384-1390
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance
Authors: Kwiatkowska, J Jozwiak, S Hall, F Henske, EP Haines, JL McNamara, P Braiser, J Wigowska-Sowinska, J Kasprzyk-Obara, J Short, MP Kwiatkowski, DJ
Citation: J. Kwiatkowska et al., Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance, ANN HUM GEN, 62, 1998, pp. 277-285
Risultati: 1-13 |