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2. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. Nahorski MS; Lim DH; Martin L; Gille JJ; McKay K; Rehal PK; Ploeger HM; van Steensel M; Tomlinson IP; Latif F; Menko FH; Maher ER J Med Genet; 2010 Jun; 47(6):385-90. PubMed ID: 20522427 [TBL] [Abstract][Full Text] [Related]
3. Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms. Gatalica Z; Lilleberg SL; Vranic S; Eyzaguirre E; Orihuela E; Velagaleti G Hum Pathol; 2009 Dec; 40(12):1813-9. PubMed ID: 19733897 [TBL] [Abstract][Full Text] [Related]
4. Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome. Furuya M; Hong SB; Tanaka R; Kuroda N; Nagashima Y; Nagahama K; Suyama T; Yao M; Nakatani Y Cancer Sci; 2015 Mar; 106(3):315-23. PubMed ID: 25594584 [TBL] [Abstract][Full Text] [Related]
5. Loss of the Birt-Hogg-Dubé gene product folliculin induces longevity in a hypoxia-inducible factor-dependent manner. Gharbi H; Fabretti F; Bharill P; Rinschen MM; Brinkkötter S; Frommolt P; Burst V; Schermer B; Benzing T; Müller RU Aging Cell; 2013 Aug; 12(4):593-603. PubMed ID: 23566034 [TBL] [Abstract][Full Text] [Related]
6. Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus. Starink TM; Houweling AC; van Doorn MB; Leter EM; Jaspars EH; van Moorselaar RJ; Postmus PE; Johannesma PC; van Waesberghe JH; Ploeger MH; Kramer MT; Gille JJ; Waisfisz Q; Menko FH J Am Acad Dermatol; 2012 Feb; 66(2):259.e1-9. PubMed ID: 21794948 [TBL] [Abstract][Full Text] [Related]
7. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Lim DH; Rehal PK; Nahorski MS; Macdonald F; Claessens T; Van Geel M; Gijezen L; Gille JJ; Giraud S; Richard S; van Steensel M; Menko FH; Maher ER Hum Mutat; 2010 Jan; 31(1):E1043-51. PubMed ID: 19802896 [TBL] [Abstract][Full Text] [Related]
8. Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome. Hasumi H; Baba M; Hasumi Y; Furuya M; Yao M Int J Urol; 2016 Mar; 23(3):204-10. PubMed ID: 26608100 [TBL] [Abstract][Full Text] [Related]
9. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Palmirotta R; Donati P; Savonarola A; Cota C; Ferroni P; Guadagni F Eur J Dermatol; 2008; 18(4):382-6. PubMed ID: 18573707 [TBL] [Abstract][Full Text] [Related]
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12. Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene. Alonso-González J; Rodríguez-Pazos L; Fernández-Redondo V; Vega-Gliemmo A; Toribio J Int J Dermatol; 2011 Aug; 50(8):968-71. PubMed ID: 21781069 [TBL] [Abstract][Full Text] [Related]
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14. Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin. Hudon V; Sabourin S; Dydensborg AB; Kottis V; Ghazi A; Paquet M; Crosby K; Pomerleau V; Uetani N; Pause A J Med Genet; 2010 Mar; 47(3):182-9. PubMed ID: 19843504 [TBL] [Abstract][Full Text] [Related]
15. A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic. Enomoto Y; Namba Y; Hoshika Y; Komemushi Y; Mitani K; Kume H; Kobayashi E; Miyama Y; Homma Y; Ushiku T; Seyama K Eur J Med Genet; 2020 Apr; 63(4):103820. PubMed ID: 31778855 [TBL] [Abstract][Full Text] [Related]
16. Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants. Liu K; Xu W; Tian X; Xiao M; Zhao X; Zhang Q; Qu T; Song J; Liu Y; Xu KF; Zhang X Orphanet J Rare Dis; 2019 Oct; 14(1):223. PubMed ID: 31615547 [TBL] [Abstract][Full Text] [Related]
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20. Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. Furuya M; Kobayashi H; Baba M; Ito T; Tanaka R; Nakatani Y BMC Med Genomics; 2018 May; 11(1):42. PubMed ID: 29720200 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]