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Results: 1-11 |
Results: 11
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
Authors: Anikster, Y Huizing, M White, J Shevchenko, YO Fitzpatrick, DL Touchman, JW Compton, JG Bale, SJ Swank, RT Gahl, WA Toro, JR
Citation: Y. Anikster et al., Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, NAT GENET, 28(4), 2001, pp. 376-380
A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion
Authors: Stratakis, CA Turner, ML Lafferty, A Toro, JR Hill, S Meck, JM Blancato, J
Citation: Ca. Stratakis et al., A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion, J MED GENET, 38(5), 2001, pp. 338-343
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
Authors: Huizing, M Anikster, Y Fitzpatrick, DL Jeong, AB D'Souza, M Rausche, M Toro, JR Kaiser-Kupfer, MI White, JG Gahl, WA
Citation: M. Huizing et al., Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency, AM J HU GEN, 69(5), 2001, pp. 1022-1032
Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
Authors: Schmidt, LS Warren, MB Nickerson, ML Weirich, G Matrosova, V Toro, JR Turner, ML Duray, P Merino, M Hewitt, S Pavlovich, CP Glenn, G Greenberg, CR Linehan, WM Zbar, B
Citation: Ls. Schmidt et al., Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2, AM J HU GEN, 69(4), 2001, pp. 876-882
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
Authors: Shevchenko, YO Compton, JG Toro, JR DiGiovanna, JJ Bale, SJ
Citation: Yo. Shevchenko et al., Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies, HUM GENET, 106(5), 2000, pp. 492-499
Topical cidofovir - A novel treatment for recalcitrant molluscum contagiosum in children infected with human immunodeficiency virus 1
Authors: Toro, JR Wood, LV Patel, NK Turner, ML
Citation: Jr. Toro et al., Topical cidofovir - A novel treatment for recalcitrant molluscum contagiosum in children infected with human immunodeficiency virus 1, ARCH DERMAT, 136(8), 2000, pp. 983-985
gamma delta T-cell lymphoma of the skin - A clinical, microscopic, and molecular study
Authors: Toro, JR Beaty, M Sorbara, L Turner, ML White, J Kingma, DW Raffeld, M Jaffe, ES
Citation: Jr. Toro et al., gamma delta T-cell lymphoma of the skin - A clinical, microscopic, and molecular study, ARCH DERMAT, 136(8), 2000, pp. 1024-1032
Tumor necrosis factor receptor-associated periodic syndrome - A novel syndrome with cutaneous manifestations
Authors: Toro, JR Aksentijevich, I Hull, K Dean, J Kastner, DL
Citation: Jr. Toro et al., Tumor necrosis factor receptor-associated periodic syndrome - A novel syndrome with cutaneous manifestations, ARCH DERMAT, 136(12), 2000, pp. 1487-1494
Detection of type 1 cytokines in discoid lupus erythematosus
Authors: Toro, JR Finlay, D Dou, XG Zheng, SC LeBoit, PE Connolly, MK
Citation: Jr. Toro et al., Detection of type 1 cytokines in discoid lupus erythematosus, ARCH DERMAT, 136(12), 2000, pp. 1497-1501
Granuloma annulare and human immunodeficiency virus infection
Authors: Toro, JR Chu, P Ben Yen, TS LeBoit, PE
Citation: Jr. Toro et al., Granuloma annulare and human immunodeficiency virus infection, ARCH DERMAT, 135(11), 1999, pp. 1341-1346
Birt-Hogg-Dube syndrome - A novel marker of kidney neoplasia
Authors: Toro, JR Glenn, G Duray, P Darling, T Weirich, G Zbar, B Linehan, M Turner, ML
Citation: Jr. Toro et al., Birt-Hogg-Dube syndrome - A novel marker of kidney neoplasia, ARCH DERMAT, 135(10), 1999, pp. 1195-1202
Risultati: 1-11 |