Research Topics
| J R ToroSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
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Detail Information
Publications
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasiaJ R Toro
Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 1908, USA
Arch Dermatol 135:1195-202. 1999..Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with BHD...
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North AmericaJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Executive Plaza South, Rockville, MD 20892, USA
Am J Hum Genet 73:95-106. 2003..HLRCC is associated with clinically significant uterine fibroids and aggressive renal tumors. The present study also expands the histologic spectrum of renal tumors and FH mutations associated with HLRCC...- gamma delta T-cell lymphoma of the skin: a clinical, microscopic, and molecular studyJ R Toro
Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 1908, USA
Arch Dermatol 136:1024-32. 2000..Only a few cases of primary gamma delta cutaneous T-cell lymphoma (CTCL) have been reported. We encountered 3 cases of this rare condition... - Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestationsJ R Toro
National Cancer Institute, National Institutes of Health, Bldg 10, Room 12N 238, 10 Center Dr, MSC 1908, Bethesda, MD 20892 1908, USA
Arch Dermatol 136:1487-94. 2000..To our knowledge, the cutaneous pathologic characteristics of TRAPS have not been described previously... - Detection of type 1 cytokines in discoid lupus erythematosusJ R Toro
National Cancer Intitute, National Institutes of Health, Building 10, Room 12N 238, 10 Center Dr, MSC 1908, Bethesda, MD 20892 1908, USA
Arch Dermatol 136:1497-501. 2000..Although multiple studies suggest a dysregulated T-cell cytokine production in systemic lupus erythematosus, the cytokine profile in discoid lupus erythematosus (DLE) lesions is unknown... - Topical cidofovir for the treatment of dermatologic conditions: verruca, condyloma, intraepithelial neoplasia, herpes simplex and its potential use in smallpoxJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Executive Plaza South, Room 7012, Rockville, MD 20892 7231, USA
Dermatol Clin 21:301-9. 2003..It is also hoped that the cost to formulate and use cidofovir topically will eventually decrease to a level that will allow more widespread use of this drug... - Facial papules, spontaneous pneumothorax, and renal tumorsJorge R Toro
Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892-7231, USA
J Am Acad Dermatol 48:111-4. 2003 - Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndromeJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892 7231, USA
Am J Respir Crit Care Med 175:1044-53. 2007..Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax... - Gamma-delta T-cell phenotype is associated with significantly decreased survival in cutaneous T-cell lymphomaJorge R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7231, USA
Blood 101:3407-12. 2003..067). No other prognostic factors were identified as having a notable association with outcome in this subgroup. TCR delta 1 expression in primary cutaneous lymphomas is an independent prognostic factor associated with decreased survival... - Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyM Huizing
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 69:1022-32. 2001..These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS... - BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reportsJ R Toro
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Executive Plaza South, Room 7012, Rockville, MD 20892 7231, USA
J Med Genet 45:321-31. 2008..Germline mutations in BHD are associated with the susceptibility for BHDS. We previously described 51 BHDS families with BHD germline mutations... - Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto RicoY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 28:376-80. 2001..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation... - Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancerM H Wei
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892, USA
J Med Genet 43:18-27. 2006..Here we characterise the clinical and genetic features of 21 new families and present the first report of two African-American families with HLRCC... - Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USAS Farasat
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20892 4562, USA
J Med Genet 46:103-11. 2009..Mutations in the transglutaminase-1 (TGM1) gene, which encodes for the epidermal enzyme transglutaminase-1 (TGase-1), are one of the causes of ARCI... - Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studiesY O Shevchenko
Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Disease, National Institutes of Health, Bethesda, MD 20892 2757, USA
Hum Genet 106:492-9. 2000.... 
Cutaneous soft tissue sarcoma incidence patterns in the U.S. : an analysis of 12,114 casesPanta Rouhani
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 7231, USA
Cancer 113:616-27. 2008..Cutaneous soft tissue sarcomas (CSTS) are a heterogeneous group of mesenchymal neoplasms. To the authors' knowledge, no prior large, population-based study has focused on CSTS...- Family history and the risk of kidney cancer: a multicenter case-control study in Central EuropeRayjean J Hung
IARC, 150 cours Albert Thomas, F 69372 Lyon Cedex 08, France
Cancer Epidemiol Biomarkers Prev 16:1287-90. 2007.... - Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndromeMichael L Nickerson
Laboratory of Immunobiology, Center for Cancer Research, SAIC Frederick, Inc, National Center for Cancer Research, Frederick, MD 21702, USA
Cancer Cell 2:157-64. 2002.... - Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemiaDavid Ng
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20892 7231, USA
Blood 109:916-25. 2007..In conclusion, we identified a novel candidate region that may predispose to familial CLL... - Incidence patterns of soft tissue sarcomas, regardless of primary site, in the surveillance, epidemiology and end results program, 1978-2001: An analysis of 26,758 casesJorge R Toro
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 7231, USA
Int J Cancer 119:2922-30. 2006..Incidence patterns of STS varied markedly by histologic type, supporting the notion that these tumors may be etiologically distinct... - Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancerLaveta Stewart
Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA
Dermatol Nurs 18:335-41; quiz 342. 2006 - High-density mapping and follow-up studies on chromosomal regions 1, 3, 6, 12, 13 and 17 in 28 families with chronic lymphocytic leukaemiaDavid Ng
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, DHHS, Bethesda, MD 20892 7236, USA
Br J Haematol 133:59-61. 2006..2, 3q22.1, 3q26.2, 6q22.31-q23.2, 12q24.23, 14q32.13, 17p13.3. Chromosome 13q21.33 remains a region of interest with a P-value of 0.013 (marker D13S1291) and warrants additional molecular investigation as a susceptibility region for CLL... - Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndromeLaura S Schmidt
Basic Research Program, Science Applications International Corporation Frederick Inc, Frederick, MD, USA
Am J Hum Genet 76:1023-33. 2005..This study expands the BHD-mutation spectrum and evaluates genotype-phenotype correlations among families with BHD... - Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapyManop Pithukpakorn
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
Adv Dermatol 22:67-90. 2006 - No association of ARLTS1 polymorphisms and risk for familial chronic lymphocytic leukaemiaDavid Ng
Br J Haematol 137:173-5. 2007 - Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumorsMichael L Nickerson
Transgenomic, Gaithersburg, Maryland, USA
Clin Cancer Res 14:4726-34. 2008..Identify relationships between the prevalence of VHL gene alterations and alteration subtypes with patient and tumor characteristics...