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Items: 1 to 20 of 106

1.

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 22;19(1):14. doi: 10.1186/s12881-017-0519-z.

2.

FLCN: The causative gene for Birt-Hogg-Dubé syndrome.

Schmidt LS, Linehan WM.

Gene. 2018 Jan 15;640:28-42. doi: 10.1016/j.gene.2017.09.044. Epub 2017 Sep 29. Review.

3.

Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.

Liu L, Yang K, Wang X, Shi Z, Yang Y, Yuan Y, Guo T, Xiao X, Luo H.

Biomed Res Int. 2017;2017:8751384. doi: 10.1155/2017/8751384. Epub 2017 Jul 12.

4.

Birt-Hogg-Dubé syndrome: a rare cause of familial spontaneous pneumothorax.

Luk HM, Tong TM, Lo IF.

Hong Kong Med J. 2017 Aug;23(4):416.e4-5. doi: 10.12809/hkmj165022. No abstract available.

5.

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 30;12(1):104. doi: 10.1186/s13023-017-0656-7.

6.

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 26;17:788-792.

7.

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB, Gerdes AM, Nielsen FC, Hansen TV.

J Hum Genet. 2017 Feb;62(2):151-157. doi: 10.1038/jhg.2016.118. Epub 2016 Oct 13.

PMID:
27734835
8.

Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.

Dardour L, Verleyen P, Lesage K, Holvoet M, Devriendt K.

Eur J Med Genet. 2016 Oct;59(10):499-501. doi: 10.1016/j.ejmg.2016.09.005. Epub 2016 Sep 12.

PMID:
27633572
9.

Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.

Zhu JF, Shen XQ, Zhu F, Tian L.

QJM. 2017 Jan;110(1):23-26. doi: 10.1093/qjmed/hcw109. Epub 2016 Aug 2.

PMID:
27486260
10.

Mutations induce conformational changes in folliculin C-terminal domain: possible cause of loss of guanine exchange factor activity and Birt-Hogg-Dubé syndrome.

Verma S, Tyagi C, Goyal S, Pandey B, Jamal S, Singh A, Grover A.

J Biomol Struct Dyn. 2017 May;35(7):1568-1573. doi: 10.1080/07391102.2016.1188728. Epub 2016 Aug 2. No abstract available.

PMID:
27484154
11.

Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.

Dong L, Gao M, Hao WJ, Zheng XQ, Li YG, Li XL, Yu Y.

Medicine (Baltimore). 2016 May;95(22):e3695. doi: 10.1097/MD.0000000000003695.

12.

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. doi: 10.1111/cge.12807. Epub 2016 Jun 30.

PMID:
27220747
13.

Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax.

Ding Y, Zou W, Zhu C, Min H, Ma D, Chen B, Ye M, Pan Y, Cao L, Wan Y, Zhu Q, Xia H, Zhang W, Feng Y, Gao Q, Yi L.

Mol Med Rep. 2015 Nov;12(5):7770-6. doi: 10.3892/mmr.2015.4341. Epub 2015 Sep 21.

PMID:
26398834
14.

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. doi: 10.1007/s10689-015-9837-5.

15.

Genetic analysis of familial spontaneous pneumothorax in an Indian family.

Ray A, Paul S, Chattopadhyay E, Kundu S, Roy B.

Lung. 2015 Jun;193(3):433-8. doi: 10.1007/s00408-015-9723-9. Epub 2015 Apr 1.

PMID:
25827758
16.

FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.

Ding Y, Zhu C, Zou W, Ma D, Min H, Chen B, Ye M, Pan Y, Cao L, Wan Y, Zhang W, Meng L, Mei Y, Yang C, Chen S, Gao Q, Yi L.

Am J Med Genet A. 2015 May;167A(5):1125-33. doi: 10.1002/ajmg.a.36979. Epub 2015 Mar 21.

PMID:
25807935
17.

Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.

Auerbach A, Roberts DH, Gangadharan SP, Kent MS.

Ann Thorac Surg. 2014 Jul;98(1):325-7. doi: 10.1016/j.athoracsur.2013.09.022.

PMID:
24996715
18.

Folliculin deficient renal cancer cells show higher radiosensitivity through autophagic cell death.

Zhang Q, Si S, Schoen S, Jin XB, Chen J, Wu G.

J Urol. 2014 Jun;191(6):1880-8. doi: 10.1016/j.juro.2014.01.001. Epub 2014 Jan 13.

PMID:
24434776
19.

Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome.

Yang CY, Wang HC, Chen JS, Yu CJ.

J Postgrad Med. 2013 Oct-Dec;59(4):321-3. doi: 10.4103/0022-3859.123169.

20.

Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations.

Laviolette LA, Wilson J, Koller J, Neil C, Hulick P, Rejtar T, Karger B, Teh BT, Iliopoulos O.

PLoS One. 2013 Jul 11;8(7):e66775. doi: 10.1371/journal.pone.0066775. Print 2013.

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