Terms: = Kidney tumors AND FLCN, BHD, 201163, ENSG00000154803, MGC23445, MGC17998, FLCL AND Diagnosis
62 results:
1. The Prevalence and Radiologic Features of Renal Cancers Associated with
Charbel C; Causa Andrieu PI; Soliman M; Woo S; Zheng J; Capanu M; Nikolovski I; Vargas HA; Abusamra M; Carlo MI
Radiol Imaging Cancer; 2024 Mar; 6(2):e230063. PubMed ID: 38456787
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2. Hybrid Oncocytic tumors (HOTs) in Birt-Hogg-Dubé Syndrome Patients-A Tale of Two Cities: Sequencing Analysis Reveals Dual Lineage Markers Capturing the 2 Cellular Populations of HOT.
Wang XM; Mannan R; Zhang Y; Chinnaiyan A; Rangaswamy R; Chugh S; Su F; Cao X; Wang R; Skala SL; Hafez KS; Vaishampayan U; Mckenney J; Picken MM; Gupta S; Alaghehbandan R; Tretiakova M; Argani P; Chinnaiyan AM; Dhanasekaran SM; Mehra R
Am J Surg Pathol; 2024 Feb; 48(2):163-173. PubMed ID: 37994665
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3. [Genetic diffuse cystic lung disease in adults].
Diesler R; Ahmad K; Chalabreysse L; Glérant JC; Harzallah I; Touraine R; Si-Mohamed S; Cottin V
Rev Mal Respir; 2024 Jan; 41(1):69-88. PubMed ID: 37951745
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4. [Expert consensus on the diagnosis and management of Birt-Hogg-Dubé syndrome].
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Zhonghua Jie He He Hu Xi Za Zhi; 2023 Sep; 46(9):897-908. PubMed ID: 37670643
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5. A splicing mutation of the flcn gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.
Xiao H; Chi F; Li S; Wang T; Bai B; Hou J; Ge X
Medicine (Baltimore); 2023 Jul; 102(27):e34241. PubMed ID: 37417625
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6. Chromophobe Renal Cell Carcinoma with Sarcomatoid Differentiation: Clinicopathologic Correlation and Molecular Findings.
Gama A; Xu H; Yang XJ; Choy B
Int J Surg Pathol; 2024 Feb; 32(1):11-16. PubMed ID: 37063043
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7. Colon adenocarcinoma and Birt-Hogg-Dubé syndrome in a young patient: case report and exploration of pathologic implications.
Jirka GW; Lefler DS; Russo J; Bashir B
Cancer Biol Ther; 2023 Dec; 24(1):2184153. PubMed ID: 36859772
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8. [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
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9. 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
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10. 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
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11. 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
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12. 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
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13. Comment on Balsamo et al.: "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 Genomics; 2022 Apr; 15(1):85. PubMed ID: 35428236
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14. Birt-Hogg-Dubé syndrome with rare unclassified renal cell carcinoma: A case report.
Ren S; Luo C; Wang Y; Wei Y; Ou Y; Yuan J; Li X; Wang J; Lv Q; Yang B; Fan S; Zhou F; Chen Z; Nie Y; Wang D
Medicine (Baltimore); 2021 Dec; 100(51):e28380. PubMed ID: 34941164
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15. 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
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16. 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
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17. Birt-Hogg-Dubé Syndrome with Renal Cancer Treated as Multiple Metastases of Cancer of Unknown Primary.
Atsukawa N; Yagi T; Kubo C; Nakanishi K; Osuga K
Intern Med; 2021 Sep; 60(18):3047-3050. PubMed ID: 33814490
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18. A Case of Birt-Hogg-Dube Syndrome.
Jansen C; Nelson J
S D Med; 2020 Apr; 73(4):168-170. PubMed ID: 32445304
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19. 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
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20. 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
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