J R Toro

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports
    J 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
  2. pmc Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
    M 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
  3. ncbi request reprint Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia
    J R Toro
    Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 1908, USA
    Arch Dermatol 135:1195-202. 1999
  4. ncbi request reprint Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations
    J 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
  5. ncbi request reprint Detection of type 1 cytokines in discoid lupus erythematosus
    J 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
  6. pmc Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
    S 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
  7. ncbi request reprint gamma delta T-cell lymphoma of the skin: a clinical, microscopic, and molecular study
    J R Toro
    Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 1908, USA
    Arch Dermatol 136:1024-32. 2000
  8. ncbi request reprint Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    Y 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
  9. pmc Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer
    M Pithukpakorn
    J Med Genet 43:755-62. 2006
  10. pmc Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
    M 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

Collaborators

Detail Information

Publications13

  1. pmc BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports
    J 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...
  2. pmc Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
    M 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...
  3. ncbi request reprint Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia
    J 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...
  4. ncbi request reprint Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations
    J 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...
  5. ncbi request reprint Detection of type 1 cytokines in discoid lupus erythematosus
    J 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...
  6. pmc Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
    S 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...
  7. ncbi request reprint gamma delta T-cell lymphoma of the skin: a clinical, microscopic, and molecular study
    J 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...
  8. ncbi request reprint Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    Y 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...
  9. pmc Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer
    M Pithukpakorn
    J Med Genet 43:755-62. 2006
    ..Hereditary leiomyomatosis and renal cell cancer (HLRCC) is the autosomal dominant heritable syndrome with predisposition to development of renal cell carcinoma and smooth muscle tumours of the skin and uterus...
  10. pmc Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
    M 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...
  11. pmc Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome
    J R Toro
    J Med Genet 39:E10. 2002
  12. ncbi request reprint Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
    Y 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
    ....
  13. pmc Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
    L S Schmidt
    Intramural Research Support Program, SAIC, National Cancer Institute Frederick, Frederick, MD, 21702, USA
    Am J Hum Genet 69:876-82. 2001
    ..Identification of the gene for BHD may reveal a new genetic locus responsible for renal neoplasia and for lung and hair-follicle developmental defects...