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1.

Hereditary Leiomyomatosis and Renal Cell Cancer.

Pithukpakorn M, Toro JR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Jul 31 [updated 2015 Aug 6].

2.

Birt-Hogg-Dubé Syndrome.

Toro JR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Feb 27 [updated 2014 Aug 7].

3.

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.

Wang Z, Zhu B, Zhang M, Parikh H, Jia J, Chung CC, Sampson JN, Hoskins JW, Hutchinson A, Burdette L, Ibrahim A, Hautman C, Raj PS, Abnet CC, Adjei AA, Ahlbom A, Albanes D, Allen NE, Ambrosone CB, Aldrich M, Amiano P, Amos C, Andersson U, Andriole G Jr, Andrulis IL, Arici C, Arslan AA, Austin MA, Baris D, Barkauskas DA, Bassig BA, Beane Freeman LE, Berg CD, Berndt SI, Bertazzi PA, Biritwum RB, Black A, Blot W, Boeing H, Boffetta P, Bolton K, Boutron-Ruault MC, Bracci PM, Brennan P, Brinton LA, Brotzman M, Bueno-de-Mesquita HB, Buring JE, Butler MA, Cai Q, Cancel-Tassin G, Canzian F, Cao G, Caporaso NE, Carrato A, Carreon T, Carta A, Chang GC, Chang IS, Chang-Claude J, Che X, Chen CJ, Chen CY, Chen CH, Chen C, Chen KY, Chen YM, Chokkalingam AP, Chu LW, Clavel-Chapelon F, Colditz GA, Colt JS, Conti D, Cook MB, Cortessis VK, Crawford ED, Cussenot O, Davis FG, De Vivo I, Deng X, Ding T, Dinney CP, Di Stefano AL, Diver WR, Duell EJ, Elena JW, Fan JH, Feigelson HS, Feychting M, Figueroa JD, Flanagan AM, Fraumeni JF Jr, Freedman ND, Fridley BL, Fuchs CS, Gago-Dominguez M, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Garcia-Closas R, Gastier-Foster JM, Gaziano JM, Gerhard DS, Giffen CA, Giles GG, Gillanders EM, Giovannucci EL, Goggins M, Gokgoz N, Goldstein AM, Gonzalez C, Gorlick R, Greene MH, Gross M, Grossman HB, Grubb R 3rd, Gu J, Guan P, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Hartge P, Hattinger C, Hayes RB, He Q, Helman L, Henderson BE, Henriksson R, Hoffman-Bolton J, Hohensee C, Holly EA, Hong YC, Hoover RN, Hosgood HD 3rd, Hsiao CF, Hsing AW, Hsiung CA, Hu N, Hu W, Hu Z, Huang MS, Hunter DJ, Inskip PD, Ito H, Jacobs EJ, Jacobs KB, Jenab M, Ji BT, Johansen C, Johansson M, Johnson A, Kaaks R, Kamat AM, Kamineni A, Karagas M, Khanna C, Khaw KT, Kim C, Kim IS, Kim JH, Kim YH, Kim YC, Kim YT, Kang CH, Jung YJ, Kitahara CM, Klein AP, Klein R, Kogevinas M, Koh WP, Kohno T, Kolonel LN, Kooperberg C, Kratz CP, Krogh V, Kunitoh H, Kurtz RC, Kurucu N, Lan Q, Lathrop M, Lau CC, Lecanda F, Lee KM, Lee MP, Le Marchand L, Lerner SP, Li D, Liao LM, Lim WY, Lin D, Lin J, Lindstrom S, Linet MS, Lissowska J, Liu J, Ljungberg B, Lloreta J, Lu D, Ma J, Malats N, Mannisto S, Marina N, Mastrangelo G, Matsuo K, McGlynn KA, McKean-Cowdin R, McNeill LH, McWilliams RR, Melin BS, Meltzer PS, Mensah JE, Miao X, Michaud DS, Mondul AM, Moore LE, Muir K, Niwa S, Olson SH, Orr N, Panico S, Park JY, Patel AV, Patino-Garcia A, Pavanello S, Peeters PH, Peplonska B, Peters U, Petersen GM, Picci P, Pike MC, Porru S, Prescott J, Pu X, Purdue MP, Qiao YL, Rajaraman P, Riboli E, Risch HA, Rodabough RJ, Rothman N, Ruder AM, Ryu JS, Sanson M, Schned A, Schumacher FR, Schwartz AG, Schwartz KL, Schwenn M, Scotlandi K, Seow A, Serra C, Serra M, Sesso HD, Severi G, Shen H, Shen M, Shete S, Shiraishi K, Shu XO, Siddiq A, Sierrasesumaga L, Sierri S, Loon Sihoe AD, Silverman DT, Simon M, Southey MC, Spector L, Spitz M, Stampfer M, Stattin P, Stern MC, Stevens VL, Stolzenberg-Solomon RZ, Stram DO, Strom SS, Su WC, Sund M, Sung SW, Swerdlow A, Tan W, Tanaka H, Tang W, Tang ZZ, Tardon A, Tay E, Taylor PR, Tettey Y, Thomas DM, Tirabosco R, Tjonneland A, Tobias GS, Toro JR, Travis RC, Trichopoulos D, Troisi R, Truelove A, Tsai YH, Tucker MA, Tumino R, Van Den Berg D, Van Den Eeden SK, Vermeulen R, Vineis P, Visvanathan K, Vogel U, Wang C, Wang C, Wang J, Wang SS, Weiderpass E, Weinstein SJ, Wentzensen N, Wheeler W, White E, Wiencke JK, Wolk A, Wolpin BM, Wong MP, Wrensch M, Wu C, Wu T, Wu X, Wu YL, Wunder JS, Xiang YB, Xu J, Yang HP, Yang PC, Yatabe Y, Ye Y, Yeboah ED, Yin Z, Ying C, Yu CJ, Yu K, Yuan JM, Zanetti KA, Zeleniuch-Jacquotte A, Zheng W, Zhou B, Mirabello L, Savage SA, Kraft P, Chanock SJ, Yeager M, Landi MT, Shi J, Chatterjee N, Amundadottir LT.

Hum Mol Genet. 2014 Dec 15;23(24):6616-33. doi: 10.1093/hmg/ddu363. Epub 2014 Jul 15.

4.

Systemic retinoids in the management of ichthyoses and related skin types.

Digiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro JR.

Dermatol Ther. 2013 Jan-Feb;26(1):26-38. doi: 10.1111/j.1529-8019.2012.01527.x.

5.

Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra.

Brau-Javier CN, Gonzales-Chavez J, Toro JR.

Arch Dermatol. 2012 Mar;148(3):301-4. doi: 10.1001/archdermatol.2011.2857. No abstract available.

6.

The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma.

Han SS, Yeager M, Moore LE, Wei MH, Pfeiffer R, Toure O, Purdue MP, Johansson M, Scelo G, Chung CC, Gaborieau V, Zaridze D, Schwartz K, Szeszenia-Dabrowska N, Davis F, Bencko V, Colt JS, Janout V, Matveev V, Foretova L, Mates D, Navratilova M, Boffetta P, Berg CD, Grubb RL 3rd, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Albanes D, Weinstein SJ, Virtamo J, Burdett L, Brisuda A, McKay JD, Fraumeni JF Jr, Chatterjee N, Rosenberg PS, Rothman N, Brennan P, Chow WH, Tucker MA, Chanock SJ, Toro JR.

Hum Mol Genet. 2012 Mar 1;21(5):1190-200. doi: 10.1093/hmg/ddr551. Epub 2011 Nov 23.

7.

Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.

Moore LE, Nickerson ML, Brennan P, Toro JR, Jaeger E, Rinsky J, Han SS, Zaridze D, Matveev V, Janout V, Kollarova H, Bencko V, Navratilova M, Szeszenia-Dabrowska N, Mates D, Schmidt LS, Lenz P, Karami S, Linehan WM, Merino M, Chanock S, Boffetta P, Chow WH, Waldman FM, Rothman N.

PLoS Genet. 2011 Oct;7(10):e1002312. doi: 10.1371/journal.pgen.1002312. Epub 2011 Oct 13.

8.

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.

Wu X, Scelo G, Purdue MP, Rothman N, Johansson M, Ye Y, Wang Z, Zelenika D, Moore LE, Wood CG, Prokhortchouk E, Gaborieau V, Jacobs KB, Chow WH, Toro JR, Zaridze D, Lin J, Lubinski J, Trubicka J, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Jinga V, Bencko V, Slamova A, Holcatova I, Navratilova M, Janout V, Boffetta P, Colt JS, Davis FG, Schwartz KL, Banks RE, Selby PJ, Harnden P, Berg CD, Hsing AW, Grubb RL 3rd, Boeing H, Vineis P, Clavel-Chapelon F, Palli D, Tumino R, Krogh V, Panico S, Duell EJ, Quirós JR, Sanchez MJ, Navarro C, Ardanaz E, Dorronsoro M, Khaw KT, Allen NE, Bueno-de-Mesquita HB, Peeters PH, Trichopoulos D, Linseisen J, Ljungberg B, Overvad K, Tjønneland A, Romieu I, Riboli E, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Pharoah PD, Easton DF, Albanes D, Virtamo J, Vatten L, Hveem K, Fletcher T, Koppova K, Cussenot O, Cancel-Tassin G, Benhamou S, Hildebrandt MA, Pu X, Foglio M, Lechner D, Hutchinson A, Yeager M, Fraumeni JF Jr, Lathrop M, Skryabin KG, McKay JD, Gu J, Brennan P, Chanock SJ.

Hum Mol Genet. 2012 Jan 15;21(2):456-62. doi: 10.1093/hmg/ddr479. Epub 2011 Oct 18.

9.

Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.

Purdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, Moore LE, Prokhortchouk E, Wu X, Kiemeney LA, Gaborieau V, Jacobs KB, Chow WH, Zaridze D, Matveev V, Lubinski J, Trubicka J, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Foretova L, Janout V, Boffetta P, Colt JS, Davis FG, Schwartz KL, Banks RE, Selby PJ, Harnden P, Berg CD, Hsing AW, Grubb RL 3rd, Boeing H, Vineis P, Clavel-Chapelon F, Palli D, Tumino R, Krogh V, Panico S, Duell EJ, Quirós JR, Sanchez MJ, Navarro C, Ardanaz E, Dorronsoro M, Khaw KT, Allen NE, Bueno-de-Mesquita HB, Peeters PH, Trichopoulos D, Linseisen J, Ljungberg B, Overvad K, Tjønneland A, Romieu I, Riboli E, Mukeria A, Shangina O, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Pharoah PD, Easton DF, Albanes D, Weinstein SJ, Virtamo J, Vatten L, Hveem K, Njølstad I, Tell GS, Stoltenberg C, Kumar R, Koppova K, Cussenot O, Benhamou S, Oosterwijk E, Vermeulen SH, Aben KK, van der Marel SL, Ye Y, Wood CG, Pu X, Mazur AM, Boulygina ES, Chekanov NN, Foglio M, Lechner D, Gut I, Heath S, Blanche H, Hutchinson A, Thomas G, Wang Z, Yeager M, Fraumeni JF Jr, Skryabin KG, McKay JD, Rothman N, Chanock SJ, Lathrop M, Brennan P.

Nat Genet. 2011 Jan;43(1):60-5. doi: 10.1038/ng.723. Epub 2010 Dec 5.

10.

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H.

J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. Review.

PMID:
20643494
11.

Cutaneous appendageal carcinoma incidence and survival patterns in the United States: a population-based study.

Blake PW, Bradford PT, Devesa SS, Toro JR.

Arch Dermatol. 2010 Jun;146(6):625-32. doi: 10.1001/archdermatol.2010.105.

PMID:
20566926
12.

Cutaneous papules, uterine fibroids, and renal cell cancer: one family's tale.

Onder M, Glenn G, Adisen E, Keseroglu O, Sahin S, Ataoglu O, Akkaya B, Toro JR.

Lancet. 2010 Jan 9;375(9709):170. doi: 10.1016/S0140-6736(09)61499-9. No abstract available.

PMID:
20109895
13.

Prior history of non-melanoma skin cancer is associated with increased mortality in patients with chronic lymphocytic leukemia.

Toro JR, Blake PW, Björkholm M, Kristinsson SY, Wang Z, Landgren O.

Haematologica. 2009 Oct;94(10):1460-4. doi: 10.3324/haematol.2008.004721.

14.

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Wei MH, Blake PW, Shevchenko J, Toro JR.

Hum Mutat. 2009 Sep;30(9):E880-90. doi: 10.1002/humu.21075.

15.
16.

Hereditary kidney cancer: unique opportunity for disease-based therapy.

Linehan WM, Pinto PA, Bratslavsky G, Pfaffenroth E, Merino M, Vocke CD, Toro JR, Bottaro D, Neckers L, Schmidt LS, Srinivasan R.

Cancer. 2009 May 15;115(10 Suppl):2252-61. doi: 10.1002/cncr.24230. Review.

17.

Cutaneous lymphoma incidence patterns in the United States: a population-based study of 3884 cases.

Bradford PT, Devesa SS, Anderson WF, Toro JR.

Blood. 2009 May 21;113(21):5064-73. doi: 10.1182/blood-2008-10-184168. Epub 2009 Mar 11.

18.

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR.

Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review.

19.

Epidemiology of nonkeratinocytic skin cancers among persons with AIDS in the United States.

Lanoy E, Dores GM, Madeleine MM, Toro JR, Fraumeni JF Jr, Engels EA.

AIDS. 2009 Jan 28;23(3):385-93. doi: 10.1097/QAD.0b013e3283213046.

20.

Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.

Stewart L, Glenn GM, Stratton P, Goldstein AM, Merino MJ, Tucker MA, Linehan WM, Toro JR.

Arch Dermatol. 2008 Dec;144(12):1584-92. doi: 10.1001/archdermatol.2008.517.

21.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR.

J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.

22.

Incidence of cutaneous sebaceous carcinoma and risk of associated neoplasms: insight into Muir-Torre syndrome.

Dores GM, Curtis RE, Toro JR, Devesa SS, Fraumeni JF Jr.

Cancer. 2008 Dec 15;113(12):3372-81. doi: 10.1002/cncr.23963.

23.

Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors.

Nickerson ML, Jaeger E, Shi Y, Durocher JA, Mahurkar S, Zaridze D, Matveev V, Janout V, Kollarova H, Bencko V, Navratilova M, Szeszenia-Dabrowska N, Mates D, Mukeria A, Holcatova I, Schmidt LS, Toro JR, Karami S, Hung R, Gerard GF, Linehan WM, Merino M, Zbar B, Boffetta P, Brennan P, Rothman N, Chow WH, Waldman FM, Moore LE.

Clin Cancer Res. 2008 Aug 1;14(15):4726-34. doi: 10.1158/1078-0432.CCR-07-4921.

24.

Cutaneous soft tissue sarcoma incidence patterns in the U.S. : an analysis of 12,114 cases.

Rouhani P, Fletcher CD, Devesa SS, Toro JR.

Cancer. 2008 Aug 1;113(3):616-27. doi: 10.1002/cncr.23571.

25.

Autoinflammatory diseases: clinical and genetic advances.

Farasat S, Aksentijevich I, Toro JR.

Arch Dermatol. 2008 Mar;144(3):392-402. Review.

PMID:
18347298
26.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM.

J Med Genet. 2008 Jun;45(6):321-31. doi: 10.1136/jmg.2007.054304. Epub 2008 Jan 30. Review.

27.

Family history and the risk of kidney cancer: a multicenter case-control study in Central Europe.

Hung RJ, Moore L, Boffetta P, Feng BJ, Toro JR, Rothman N, Zaridze D, Navratilova M, Bencko V, Janout V, Kollarova H, Szeszenia-Dabrowska N, Mates D, Chow WH, Brennan P.

Cancer Epidemiol Biomarkers Prev. 2007 Jun;16(6):1287-90.

28.

No association of ARLTS1 polymorphisms and risk for familial chronic lymphocytic leukaemia.

Ng D, Toure O, Fontaine L, McMaster ML, Goldin LR, Caporaso N, Toro JR.

Br J Haematol. 2007 Apr;137(2):173-5. No abstract available.

PMID:
17391501
29.

Abnormal microRNA-16 locus with synteny to human 13q14 linked to CLL in NZB mice.

Raveche ES, Salerno E, Scaglione BJ, Manohar V, Abbasi F, Lin YC, Fredrickson T, Landgraf P, Ramachandra S, Huppi K, Toro JR, Zenger VE, Metcalf RA, Marti GE.

Blood. 2007 Jun 15;109(12):5079-86. Epub 2007 Mar 9.

30.

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.

Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM.

Am J Respir Crit Care Med. 2007 May 15;175(10):1044-53. Epub 2007 Feb 22.

31.

Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.

Pithukpakorn M, Aksentijevich I, Toro JR.

Adv Dermatol. 2006;22:67-90. Review. No abstract available.

PMID:
17249296
32.

Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemia.

Ng D, Toure O, Wei MH, Arthur DC, Abbasi F, Fontaine L, Marti GE, Fraumeni JF Jr, Goldin LR, Caporaso N, Toro JR.

Blood. 2007 Feb 1;109(3):916-25. Epub 2006 Oct 17.

33.
34.

Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer.

Stewart L, Glenn G, Toro JR.

Dermatol Nurs. 2006 Aug;18(4):335-41; quiz 342. Review. No abstract available.

PMID:
16948378
35.

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Pithukpakorn M, Wei MH, Toure O, Steinbach PJ, Glenn GM, Zbar B, Linehan WM, Toro JR.

J Med Genet. 2006 Sep;43(9):755-62. Epub 2006 Apr 5.

36.

High-density mapping and follow-up studies on chromosomal regions 1, 3, 6, 12, 13 and 17 in 28 families with chronic lymphocytic leukaemia.

Ng D, Marti GE, Fontaine L, Toro JR, Caporaso N, Goldin LR.

Br J Haematol. 2006 Apr;133(1):59-61.

PMID:
16512829
37.

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR.

J Med Genet. 2006 Jan;43(1):18-27. Epub 2005 Jun 3.

38.

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM.

Am J Hum Genet. 2005 Jun;76(6):1023-33. Epub 2005 Apr 25.

39.

Role of FDG-PET in the Pre-Operative Evaluation of Surgical Resection of Hepatic Metastases from Colorectal Cancer.

Halkar RK, Toro JR, Lim EH, Staley CA, Grafton ST, Garcia EV, Hoffman J.

Clin Positron Imaging. 1999 Nov;2(6):335. No abstract available.

PMID:
14516632
40.

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.

Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B.

Am J Hum Genet. 2003 Jul;73(1):95-106. Epub 2003 May 22.

41.
42.

Facial papules, spontaneous pneumothorax, and renal tumors.

Toro JR, Glenn G, Hou L, Duray P, Clark B, Merino M, Zbar B, Linehan M, Turner ML.

J Am Acad Dermatol. 2003 Jan;48(1):111-4. No abstract available.

PMID:
12522379
43.

Gamma-delta T-cell phenotype is associated with significantly decreased survival in cutaneous T-cell lymphoma.

Toro JR, Liewehr DJ, Pabby N, Sorbara L, Raffeld M, Steinberg SM, Jaffe ES.

Blood. 2003 May 1;101(9):3407-12. Epub 2003 Jan 9.

44.

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.

Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS.

Cancer Cell. 2002 Aug;2(2):157-64.

45.

Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome.

Toro JR, Shevchenko YO, Compton JG, Bale SJ.

J Med Genet. 2002 Feb;39(2):E10. No abstract available.

46.

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA.

Am J Hum Genet. 2001 Nov;69(5):1022-32. Epub 2001 Oct 3.

47.

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

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.

Am J Hum Genet. 2001 Oct;69(4):876-82. Epub 2001 Aug 30.

48.

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR.

Nat Genet. 2001 Aug;28(4):376-80.

PMID:
11455388
49.

A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion.

Stratakis CA, Turner ML, Lafferty A, Toro JR, Hill S, Meck JM, Blancato J.

J Med Genet. 2001 May;38(5):338-43. No abstract available.

50.

Genetic basis of Darier-White disease: bad pumps cause bumps.

Bale SJ, Toro JR.

J Cutan Med Surg. 2000 Apr;4(2):103-6.

PMID:
11179934

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