Terms: = Skin cancer AND FLCN, BHD, 201163, ENSG00000154803, MGC23445, MGC17998, FLCL AND Diagnosis
44 results:
1. [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]
2. [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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. A Case of Birt-Hogg-Dube Syndrome.
Jansen C; Nelson J
S D Med; 2020 Apr; 73(4):168-170. PubMed ID: 32445304
[TBL] [Abstract] [Full Text] [Related]
12. Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
Balsamo F; Cardoso PAS; do Amaral Junior SA; Theodoro TR; de Sousa Gehrke F; da Silva Pinhal MA; Bianco B; Waisberg J
BMC Med Genet; 2020 Mar; 21(1):52. PubMed ID: 32171268
[TBL] [Abstract] [Full Text] [Related]
13. 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]
14. Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology.
Kumar K; Ross C
BMJ Case Rep; 2019 Sep; 12(9):. PubMed ID: 31494588
[TBL] [Abstract] [Full Text] [Related]
15. Familial Kidney cancer: Implications of New Syndromes and Molecular Insights.
Carlo MI; Hakimi AA; Stewart GD; Bratslavsky G; Brugarolas J; Chen YB; Linehan WM; Maher ER; Merino MJ; Offit K; Reuter VE; Shuch B; Coleman JA
Eur Urol; 2019 Dec; 76(6):754-764. PubMed ID: 31326218
[TBL] [Abstract] [Full Text] [Related]
16. Exploring the hereditary background of renal cancer in Denmark.
Christensen MB; Wadt K; Jensen UB; Lautrup CK; Bojesen A; Krogh LN; Overeem Hansen TV; Gerdes AM
PLoS One; 2019; 14(4):e0215725. PubMed ID: 31034483
[TBL] [Abstract] [Full Text] [Related]
17. Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.
Lee JH; Jeon MJ; Song JS; Chae EJ; Choi JH; Kim GH; Song JW
Korean J Intern Med; 2019 Jul; 34(4):830-840. PubMed ID: 30360018
[TBL] [Abstract] [Full Text] [Related]
18. Renal transplantation in Birt-Hogg-Dubé syndrome: should we?
Coutinho J; de Sa J; Teixeira FC; Santos CR; Chorão RS; Filipe RA; Rocha EF
BMC Nephrol; 2018 Oct; 19(1):267. PubMed ID: 30326848
[TBL] [Abstract] [Full Text] [Related]
19. Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
Steinlein OK; Ertl-Wagner B; Ruzicka T; Sattler EC
J Dtsch Dermatol Ges; 2018 Mar; 16(3):278-283. PubMed ID: 29537177
[TBL] [Abstract] [Full Text] [Related]
20. Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the flcn gene.
Hou X; Zhou Y; Peng Y; Qiu R; Xia K; Tang B; Zhuang W; Jiang H
BMC Med Genet; 2018 Jan; 19(1):14. PubMed ID: 29357828
[TBL] [Abstract] [Full Text] [Related]
[Next]
