245 related articles for article (PubMed ID: 31615547)
1. 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]
2. Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
Liu Y; Xu Z; Feng R; Zhan Y; Wang J; Li G; Li X; Zhang W; Hu X; Tian X; Xu KF; Zhang X
Orphanet J Rare Dis; 2017 May; 12(1):104. PubMed ID: 28558743
[TBL] [Abstract][Full Text] [Related]
3. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
Benhammou JN; Vocke CD; Santani A; Schmidt LS; Baba M; Seyama K; Wu X; Korolevich S; Nathanson KL; Stolle CA; Linehan WM
Genes Chromosomes Cancer; 2011 Jun; 50(6):466-77. PubMed ID: 21412933
[TBL] [Abstract][Full Text] [Related]
4. Detection of
Liu L; Yang K; Wang X; Shi Z; Yang Y; Yuan Y; Guo T; Xiao X; Luo H
Biomed Res Int; 2017; 2017():8751384. PubMed ID: 28785590
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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
[TBL] [Abstract][Full Text] [Related]
7. Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.
Li T; Ning X; He Q; Gong K
Chin J Cancer; 2017 Jan; 36(1):4. PubMed ID: 28069055
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report.
Gunji-Niitsu Y; Kumasaka T; Kitamura S; Hoshika Y; Hayashi T; Tokuda H; Morita R; Kobayashi E; Mitani K; Kikkawa M; Takahashi K; Seyama K
BMC Med Genet; 2016 Nov; 17(1):85. PubMed ID: 27871249
[TBL] [Abstract][Full Text] [Related]
10. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Toro JR; Wei MH; Glenn GM; Weinreich M; Toure O; Vocke C; Turner M; Choyke P; Merino MJ; Pinto PA; Steinberg SM; Schmidt LS; Linehan WM
J Med Genet; 2008 Jun; 45(6):321-31. PubMed ID: 18234728
[TBL] [Abstract][Full Text] [Related]
11. Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
Maffé A; Toschi B; Circo G; Giachino D; Giglio S; Rizzo A; Carloni A; Poletti V; Tomassetti S; Ginardi C; Ungari S; Genuardi M
Clin Genet; 2011 Apr; 79(4):345-54. PubMed ID: 20618353
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene.
Kayhan G; Yılmaz Demirci N; Turktas H; Ergun MA
Genet Test Mol Biomarkers; 2017 Oct; 21(10):632-634. PubMed ID: 28805452
[TBL] [Abstract][Full Text] [Related]
14. Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.
Zhu JF; Shen XQ; Zhu F; Tian L
QJM; 2017 Jan; 110(1):23-26. PubMed ID: 27486260
[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. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Houweling AC; Gijezen LM; Jonker MA; van Doorn MB; Oldenburg RA; van Spaendonck-Zwarts KY; Leter EM; van Os TA; van Grieken NC; Jaspars EH; de Jong MM; Bongers EM; Johannesma PC; Postmus PE; van Moorselaar RJ; van Waesberghe JH; Starink TM; van Steensel MA; Gille JJ; Menko FH
Br J Cancer; 2011 Dec; 105(12):1912-9. PubMed ID: 22146830
[TBL] [Abstract][Full Text] [Related]
17. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
Kluger N; Giraud S; Coupier I; Avril MF; Dereure O; Guillot B; Richard S; Bessis D
Br J Dermatol; 2010 Mar; 162(3):527-37. PubMed ID: 19785621
[TBL] [Abstract][Full Text] [Related]
18. Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.
Wang Y; Cai M; Jiang X; Lv G; Hu D; Zhang G; Liu J; Wei W; Xiao J; Shen B; Ryu JH; Hu X
Orphanet J Rare Dis; 2023 May; 18(1):115. PubMed ID: 37170274
[TBL] [Abstract][Full Text] [Related]
19. A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.
Zhang X; Ma D; Zou W; Ding Y; Zhu C; Min H; Zhang B; Wang W; Chen B; Ye M; Cai M; Pan Y; Cao L; Wan Y; Jin Y; Gao Q; Yi L
Respir Res; 2016 May; 17(1):64. PubMed ID: 27229674
[TBL] [Abstract][Full Text] [Related]
20. Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
Furuya M; Yao M; Tanaka R; Nagashima Y; Kuroda N; Hasumi H; Baba M; Matsushima J; Nomura F; Nakatani Y
Clin Genet; 2016 Nov; 90(5):403-412. PubMed ID: 27220747
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
