Terms: = Lung cancer AND FLCN, BHD, 201163, ENSG00000154803, MGC23445, MGC17998, FLCL AND Diagnosis
30 results:
1. [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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2. [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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3. [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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4. Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea.
Park HJ; Kim YJ; Kim MJ; Kim HC
PLoS One; 2022; 17(6):e0269358. PubMed ID: 35666727
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5. 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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6. 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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7. 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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8. 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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9. 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
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10. The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.
Torricelli E; Occhipinti M; Cavigli E; Tancredi G; Rosi E; Rossi C; Bonaguro M; Candita L; Papi L; Novelli L; Bezzi M; Bargagli E; Voltolini L; Pistolesi M
Respiration; 2019; 98(2):125-132. PubMed ID: 31266032
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11. 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
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12. Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.
Sattler EC; Steinlein OK
BMC Med Genet; 2018 Mar; 19(1):45. PubMed ID: 29548312
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13. 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
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14. Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom.
Bock K; Lohse Z; Madsen PH; Hilberg O
BMJ Case Rep; 2018 Jan; 2018():. PubMed ID: 29321196
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15. Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.
Iwabuchi C; Ebana H; Ishiko A; Negishi A; Mizobuchi T; Kumasaka T; Kurihara M; Seyama K
J Dermatol Sci; 2018 Jan; 89(1):77-84. PubMed ID: 29157599
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16. Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt-Hogg-Dubé syndrome.
Hoshika Y; Takahashi F; Togo S; Hashimoto M; Nara T; Kobayashi T; Nurwidya F; Kataoka H; Kurihara M; Kobayashi E; Ebana H; Kikkawa M; Ando K; Nishino K; Hino O; Takahashi K; Seyama K
Physiol Rep; 2016 Nov; 4(21):. PubMed ID: 27905298
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17. A Case of Birt-Hogg-Dubé (bhd) Syndrome Harboring a Novel Folliculin (flcn) Gene Mutation.
Yukawa T; Fukazawa T; Yoshida M; Morita I; Kato K; Monobe Y; Furuya M; Naomoto Y
Am J Case Rep; 2016 Oct; 17():788-792. PubMed ID: 27780965
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18. An 18-year-old man with recurrent pneumothorax since he was 10-year-old.
Demir M; Çobanoğlu N
Pediatr Pulmonol; 2016 Dec; 51(12):E41-E43. PubMed ID: 27257988
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19. Birt-Hogg-Dubé syndrome: novel flcn frameshift deletion in daughter and father with renal cell carcinomas.
Näf E; Laubscher D; Hopfer H; Streit M; Matyas G
Fam Cancer; 2016 Jan; 15(1):127-32. PubMed ID: 26342594
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20. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
Benusiglio PR; Giraud S; Deveaux S; Méjean A; Correas JM; Joly D; Timsit MO; Ferlicot S; Verkarre V; Abadie C; Chauveau D; Leroux D; Avril MF; Cordier JF; Richard S;
Orphanet J Rare Dis; 2014 Oct; 9():163. PubMed ID: 25519458
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