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Jorge Toro

Research Profile

Disorders

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Physiology

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DNA Mutational Analysis

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Chromosomes, Human, Pair 13

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Publications

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John J DiGiovanna; Theodora Mauro; Leonard M Milstone; Matthias Schmuth; Jorge R Toro
Systemic retinoids in the management of ichthyoses and related skin types.
Cristina N Brau-Javier; Jose Gonzales-Chavez; Jorge R Toro
Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra.
Lee E Moore; Marie Navratilova; Michael L Nickerson; Jessica Rinsky; Laura S Schmidt; Neonilia Szeszenia-Dabrowska; Jorge R Toro; Frederic M Waldman; David Zaridze; Vladimir Bencko; Paolo Boffetta; Paul Brennan; STEPHEN CHANOCK; Wong-Ho Chow; Summer S Han; Erich Jaeger; vladimir janout; Sara Karami; Helena Kollarova; Petra Lenz; W Marston Linehan; Dana Mates; Vsevolod Matveev; Maria Merino; Nathaniel Rothman
Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.

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All Publications

2013: John J DiGiovanna; Theodora Mauro; Leonard M Milstone; Matthias Schmuth; Jorge R Toro
Systemic retinoids in the management of ichthyoses and related skin types.
Dermatologic therapy 2013;26(1):26-38.
2012: Cristina N Brau-Javier; Jose Gonzales-Chavez; Jorge R Toro
Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra.
Archives of dermatology 2012;148(3):301-4.
2011: Lee E Moore; Marie Navratilova; Michael L Nickerson; Jessica Rinsky; Laura S Schmidt; Neonilia Szeszenia-Dabrowska; Jorge R Toro; Frederic M Waldman; David Zaridze; Vladimir Bencko; Paolo Boffetta; Paul Brennan; STEPHEN CHANOCK; Wong-Ho Chow; Summer S Han; Erich Jaeger; vladimir janout; Sara Karami; Helena Kollarova; Petra Lenz; W Marston Linehan; Dana Mates; Vsevolod Matveev; Maria Merino; Nathaniel Rothman
Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.
PLoS genetics 2011;7(10):e1002312.
2010: Patrick W Blake; Porcia T Bradford; Susan S Devesa; Jorge R Toro
Cutaneous appendageal carcinoma incidence and survival patterns in the United States: a population-based study.
Archives of dermatology 2010;146(6):625-32.
2009: Jorge R Toro; Patrick W Blake; Magnus Björkholm; Sigurdur Y Kristinsson; Zhuoqiao Wang; Ola Landgren
Prior history of non-melanoma skin cancer is associated with increased mortality in patients with chronic lymphocytic leukemia.
Haematologica 2009;94(10):1460-4.
2009: Ming-Hui Wei; Patrick W Blake; Julia Shevchenko; Jorge R Toro
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Human mutation 2009;30(9):E880-90.
2009: Patrick W Blake; Jorge R Toro
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
Human mutation 2009;30(7):1025-36.
2009: W Marston Linehan; Peter A Pinto; Gennady Bratslavsky; Elizabeth Pfaffenroth; Maria Merino; Cathy D Vocke; Jorge R Toro; Donald Bottaro; Len Neckers; Laura S Schmidt; Ramaprasad Srinivasan
Hereditary kidney cancer: unique opportunity for disease-based therapy.
Cancer 2009;115(10 Suppl):2252-61.
2009: Matthew L Herman; Sharifeh Farasat; Peter J Steinbach; Ming-Hui Wei; Ousmane Toure; Philip Fleckman; Patrick Blake; Sherri J Bale; Jorge R Toro
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Human mutation 2009;30(4):537-47.
2009: Emilie Lanoy; Graça M Dores; Margaret M Madeleine; Jorge R Toro; Joseph Fraumeni; Eric A Engels
Epidemiology of nonkeratinocytic skin cancers among persons with AIDS in the United States.
AIDS (London, England) 2009;23(3):385-93.
2008: Panta Rouhani; Christopher D M Fletcher; Susan S Devesa; Jorge R Toro
Cutaneous soft tissue sarcoma incidence patterns in the U.S. : an analysis of 12,114 cases.
Cancer 2008;113(3):616-27.
2008: Jorge R Toro; Ming-Hui Wei; Gladys Glenn; Michael Weinreich; Ousmane Toure; C Vocke; M Turner; Peter Choyke; Maria J Merino; P A Pinto; Seth M Steinberg; Laura S Schmidt; W Marston Linehan
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Journal of medical genetics 2008;45(6):321-31.
2008: Sharifeh Farasat; Ivona Aksentijevich; Jorge R Toro
Autoinflammatory diseases: clinical and genetic advances.
Archives of dermatology 2008;144(3):392-402.
2007: Elizabeth Raveche; Erica Salerno; Brian J Scaglione; Vijaya Manohar; Fatima Abbasi; Yi-Chu Lin; Torgny Fredrickson; Pablo Landgraf; Sumant Ramachandra; Konrad Huppi; Jorge R Toro; Vincent E Zenger; Robert A Metcalf; Gerald E Marti
Abnormal microRNA-16 locus with synteny to human 13q14 linked to CLL in NZB mice.
Blood 2007;109(12):5079-86.
2007: Jorge R Toro; Stephen E Pautler; LAVETA STEWART; Gladys Glenn; Michael Weinreich; Ousmane Toure; Ming-Hui Wei; Laura S Schmidt; Lewis Davis; Berton Zbar; Peter Choyke; Seth M Steinberg; Dao Nguyen; W Marston Linehan
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
American journal of respiratory and critical care medicine 2007;175(10):1044-53.
2007: David Ng; Ousmane Toure; Laura Fontaine; Mary L McMaster; Lynn R Goldin; Neil Caporaso; Jorge R Toro
No association of ARLTS1 polymorphisms and risk for familial chronic lymphocytic leukaemia.
British journal of haematology 2007;137(2):173-5.
2007: David Ng; Ousmane Toure; Ming-Hui Wei; Diane C Arthur; Fatima Abbasi; Laura Fontaine; Gerald E Marti; Joseph Fraumeni; Lynn R Goldin; Neil Caporaso; Jorge R Toro
Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemia.
Blood 2007;109(3):916-25.
2006: Jorge R Toro; Lois B Travis; Hongyu Julian Wu; Kangmin Zhu; Christopher D M Fletcher; Susan S Devesa
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 cases.
International journal of cancer. Journal international du cancer 2006;119(12):2922-30.
2006: Manop Pithukpakorn; Ming-Hui Wei; Ousmane Toure; P J Steinbach; Gladys Glenn; Berton Zbar; W Marston Linehan; Jorge R Toro
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Journal of medical genetics 2006;43(9):755-62.
2006: LAVETA STEWART; Gladys Glenn; Jorge R Toro
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer.
Dermatology nursing / Dermatology Nurses' Association 2006;18(4):335-41; quiz 342.
2006: David Ng; Gerald E Marti; Laura Fontaine; Jorge R Toro; Neil Caporaso; Lynn R Goldin
High-density mapping and follow-up studies on chromosomal regions 1, 3, 6, 12, 13 and 17 in 28 families with chronic lymphocytic leukaemia.
British journal of haematology 2006;133(1):59-61.
2006: Manop Pithukpakorn; Ivona Aksentijevich; Jorge R Toro
Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.
Advances in dermatology 2006;22():67-90.
2006: Ming-Hui Wei; Ousmane Toure; Gladys Glenn; Manop Pithukpakorn; L Neckers; Catherine Stolle; Peter Choyke; Robert L Grubb; Lindsay Middelton; Maria L Turner; McClellan Walther; Maria J Merino; Berton Zbar; W Marston Linehan; Jorge R Toro
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Journal of medical genetics 2006;43(1):18-27.
2005: Laura S Schmidt; Michael L Nickerson; Michelle B Warren; Gladys Glenn; Jorge R Toro; Maria J Merino; Maria L Turner; Peter L Choyke; Nirmala Sharma; James Peterson; Patrick Morrison; Eamonn R Maher; McClellan Walther; Berton Zbar; W Marston Linehan
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
American journal of human genetics 2005;76(6):1023-33.
2003: Jorge R Toro; Michael L Nickerson; Ming-Hui Wei; Michelle B Warren; Gladys Glenn; Maria L Turner; LAVETA STEWART; Paul H Duray; Ousman Tourre; Nirmala Sharma; Peter Choyke; Pamela Stratton; Maria Merino; McClellan Walther; W Marston Linehan; Laura S Schmidt; Berton Zbar
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
American journal of human genetics 2003;73(1):95-106.
2003: Jorge R Toro; David J Liewehr; Nina Pabby; Lynn Sorbara; Mark Raffeld; Seth M Steinberg; Elaine S Jaffe
Gamma-delta T-cell phenotype is associated with significantly decreased survival in cutaneous T-cell lymphoma.
Blood 2003;101(9):3407-12.
2003: Jorge R Toro; Samuel Sanchez; George Turiansky; Andrew Blauvelt
Topical cidofovir for the treatment of dermatologic conditions: verruca, condyloma, intraepithelial neoplasia, herpes simplex and its potential use in smallpox.
Dermatologic clinics 2003;21(2):301-9.
2003: Jorge R Toro; Gladys Glenn; Lifang Hou; Paul H Duray; Bradley Clark; Maria Merino; Berton Zbar; Marston Linehan; Maria L Turner
Facial papules, spontaneous pneumothorax, and renal tumors.
Journal of the American Academy of Dermatology 2003;48(1):111-4.
2002: Michael L Nickerson; Michelle B Warren; Jorge R Toro; Vera Y Matrosova; Gladys Glenn; Maria L Turner; Paul H Duray; Maria Merino; Peter Choyke; Christian P Pavlovich; Nirmala Sharma; McClellan Walther; David Munroe; Rob Hill; Eamonn Maher; Cheryl Greenberg; Michael I Lerman; W Marston Linehan; Berton Zbar; Laura S Schmidt
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 syndrome.
Cancer cell 2002;2(2):157-64.
2001: Laura S Schmidt; Michelle B Warren; Michael L Nickerson; Gregor Weirich; Vera Y Matrosova; Jorge R Toro; Maria L Turner; Paul H Duray; Maria Merino; S Hewitt; Christian P Pavlovich; Gladys Glenn; C R Greenberg; W Marston Linehan; Berton Zbar
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.
American journal of human genetics 2001;69(4):876-82.
2000: Jorge R Toro; Ivona Aksentijevich; Keith M Hull; Jurrien Dean; Daniel Kastner
Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.
Archives of dermatology 2000;136(12):1487-94.
2000: Jorge R Toro; Michael Beaty; Lynn Sorbara; Maria L Turner; J White; Douglas W Kingma; Mark Raffeld; Elaine S Jaffe
gamma delta T-cell lymphoma of the skin: a clinical, microscopic, and molecular study.
Archives of dermatology 2000;136(8):1024-32.
2000: Jorge R Toro; Lauren V Wood; N K Patel; Maria L Turner
Topical cidofovir: a novel treatment for recalcitrant molluscum contagiosum in children infected with human immunodeficiency virus 1.
Archives of dermatology 2000;136(8):983-5.
1999: Jorge R Toro; Gladys Glenn; Paul H Duray; Thomas Darling; Gregor Weirich; Berton Zbar; Marston Linehan; Maria L Turner
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.
Archives of dermatology 1999;135(10):1195-202.