Terms: = Skin cancer AND FLCN, BHD, 201163, ENSG00000154803, MGC23445, MGC17998, FLCL
129 results:
1. Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.
van Riel L; van Hulst RA; van Hest L; van Moorselaar R; Boerrigter BG; Franken SM; Wolthuis R; Dubbink HJ; Marciniak SJ; Gupta N; van de Beek I; Houweling AC
Expert Rev Respir Med; 2023; 17(11):1003-1008. PubMed ID: 37991821
[TBL] [Abstract] [Full Text] [Related]
2. [Expert consensus on the diagnosis and management of Birt-Hogg-Dubé syndrome].
; ; ;
Zhonghua Jie He He Hu Xi Za Zhi; 2023 Sep; 46(9):897-908. PubMed ID: 37670643
[TBL] [Abstract] [Full Text] [Related]
3. PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Schmidt LS; Vocke CD; Ricketts CJ; Blake Z; Choo KK; Nielsen D; Gautam R; Crooks DR; Reynolds KL; Krolus JL; Bashyal M; Karim B; Cowen EW; Malayeri AA; Merino MJ; Srinivasan R; Ball MW; Zbar B; Marston Linehan W
Urology; 2023 Sep; 179():58-70. PubMed ID: 37331486
[TBL] [Abstract] [Full Text] [Related]
4. Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ; Dowty JG; Win AK; Goddard LC; Agrawal P; Attina' D; Bissada N; De Luise M; Eisen DB; Furuya M; Gasparre G; Genuardi M; Gerdes AM; Hansen TVO; Houweling AC; Johannesma PC; Lencastre A; Lim D; Lindor NM; Luzzi V; Lynch M; Maffé A; Menko FH; Michels G; Pulido JS; Ryu JH; Sattler EC; Steinlein OK; Tomassetti S; Tucker K; Turchetti D; van de Beek I; van Riel L; van Steensel M; Zenone T; Zompatori M; Walsh J; Bondavalli D; Maher ER; Winship IM;
J Med Genet; 2023 Apr; 60(4):317-326. PubMed ID: 36849229
[TBL] [Abstract] [Full Text] [Related]
5. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I; Glykofridis IE; Tanck MWT; Luijten MNH; Starink TM; Balk JA; Johannesma PC; Hennekam E; van den Hoff MJB; Gunst QD; Gille JJP; Polstra AM; Postmus PE; van Steensel MAM; Postma AV; Wolthuis RMF; Menko FH; Houweling AC; Waisfisz Q
J Hum Genet; 2023 Apr; 68(4):273-279. PubMed ID: 36599954
[TBL] [Abstract] [Full Text] [Related]
6. [DIAGNOSIS OF GENETIC VARIANT CARRIERS IN A PATIENT WITH ASYMPTOMATIC BIRT-HOGG-DUBÉ SYNDROME: A CASE REPORT].
Watari S; Ichikawa T; Hirasawa A; Shiraishi H; Tokunaga M; Kubota R; Kusumi N; Tsushima T; Shinno Y; Furuya M
Nihon Hinyokika Gakkai Zasshi; 2023; 114(2):61-65. PubMed ID: 38644188
[TBL] [Abstract] [Full Text] [Related]
7. A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD; Fleming LR; Piskorski AM; Amin A; Phornphutkul C; de la Monte S; Vilboux T; Duncan F; Pellegrino J; Braddock B; Middelton LA; Schmidt LS; Merino MJ; Cowen EW; Introne WJ; Linehan WM; Smith ACM
Am J Med Genet A; 2023 Feb; 191(2):490-497. PubMed ID: 36513625
[TBL] [Abstract] [Full Text] [Related]
8. PRDM10 directs flcn expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
van de Beek I; Glykofridis IE; Oosterwijk JC; van den Akker PC; Diercks GFH; Bolling MC; Waisfisz Q; Mensenkamp AR; Balk JA; Zwart R; Postma AV; Meijers-Heijboer HEJ; van Moorselaar RJA; Wolthuis RMF; Houweling AC
Hum Mol Genet; 2023 Mar; 32(7):1223-1235. PubMed ID: 36440963
[TBL] [Abstract] [Full Text] [Related]
9. Combined germline pathogenic variants in flcn and TP53 are associated with early onset renal cell carcinoma and brain tumors.
van de Beek I; Glykofridis IE; Wagner A; den Toom DT; Bongers EMHF; van Leenders GJLH; Johannesma PC; Meijers-Heijboer HEJ; Wolthuis RMF; van Steensel MAM; Dubbink HJ; Houweling AC
Mol Genet Genomic Med; 2023 Feb; 11(2):e2098. PubMed ID: 36382415
[TBL] [Abstract] [Full Text] [Related]
10. Topical systems for the controlled release of antineoplastic Drugs: Oxidized Alginate-Gelatin Hydrogel/Unilamellar vesicles.
Stagnoli S; Garro C; Ertekin O; Heid S; Seyferth S; Soria G; Mariano Correa N; Leal-Egaña A; Boccaccini AR
J Colloid Interface Sci; 2023 Jan; 629(Pt A):1066-1080. PubMed ID: 36303362
[TBL] [Abstract] [Full Text] [Related]
11. Birt-Hogg-Dubé syndrome: Another mTOR phenomenon.
Shah RR; Lambert WC; Schwartz RA
Clin Dermatol; 2022; 40(6):700-705. PubMed ID: 35907578
[TBL] [Abstract] [Full Text] [Related]
12. A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome.
Sano T; Fukui T; Makita N; Shimizu K; Kono J; Masui K; Sato T; Goto T; Sawada A; Fujimoto M; Kojima F; Torishima M; Wada T; Furuya M; Ogawa O; Kobayashi T; Akamatsu S
Cancer Genet; 2022 Aug; 266-267():28-32. PubMed ID: 35691222
[TBL] [Abstract] [Full Text] [Related]
13. Frequency of truncating flcn variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Savatt JM; Shimelis H; Moreno-De-Luca A; Strande NT; Oetjens MT; Ledbetter DH; Martin CL; Myers SM; Finucane BM
Genet Med; 2022 Sep; 24(9):1857-1866. PubMed ID: 35639097
[TBL] [Abstract] [Full Text] [Related]
14. Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.
Zhang G; Liu J; Wang Y; Wang Y; Jiang X; Peng Y; Xiao J; Wei W; Shen B; Yi L; Ryu JH; Hu X
Orphanet J Rare Dis; 2022 May; 17(1):203. PubMed ID: 35578266
[TBL] [Abstract] [Full Text] [Related]
15. Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at flcn.
Ray A; Chattopadhyay E; Singh R; Ghosh S; Bera A; Sarma M; Munot M; Desai U; Rajan S; Prabhudesai P; Prakash AK; Roy Chowdhury S; Bhowmick N; Dhar R; Udwadia ZF; Dey A; Mitra S; Joshi JM; Maitra A; Roy B
Orphanet J Rare Dis; 2022 Apr; 17(1):176. PubMed ID: 35477461
[TBL] [Abstract] [Full Text] [Related]
16. Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
van de Beek I; van Steensel MAM; Houweling AC
BMC Med Genomics; 2022 Apr; 15(1):84. PubMed ID: 35428286
[TBL] [Abstract] [Full Text] [Related]
17. Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.
Gupta S; Erickson LA; Lohse CM; Shen W; Pitel BA; Knight SM; Halling KC; Herrera-Hernandez L; Boorjian SA; Thompson RH; Leibovich BC; Jimenez RE; Cheville JC
JAMA Netw Open; 2021 Nov; 4(11):e2132615. PubMed ID: 34767027
[TBL] [Abstract] [Full Text] [Related]
18. A systematic review assessing the existence of pneumothorax-only variants of flcn. Implications for lifelong surveillance of renal tumours.
Matsumoto K; Lim D; Pharoah PD; Maher ER; Marciniak SJ
Eur J Hum Genet; 2021 Nov; 29(11):1595-1600. PubMed ID: 34267338
[TBL] [Abstract] [Full Text] [Related]
19. Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.
Radzikowska E; Lechowicz U; Winek J; Opoka L
Orphanet J Rare Dis; 2021 Jul; 16(1):302. PubMed ID: 34229741
[TBL] [Abstract] [Full Text] [Related]
20. [Are multiple trichodiscomas/fibrofolliculomas the Birt-Hogg-Dubé syndrome?].
Belousova IE; Shpilyuk RG; Chepushtanova KO; Gorbunov YG; Kazakov DV
Arkh Patol; 2021; 83(3):45-51. PubMed ID: 34041896
[TBL] [Abstract] [Full Text] [Related]
[Next]
