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Items: 1 to 20 of 60

1.

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.

2.

Birt-Hogg-Dubé Syndrome - report of two cases with two new mutations.

Rato M, Monteiro AF, Parente J, Aranha J, Tavares E.

J Dermatol Case Rep. 2017 Mar 31;11(1):12-15. doi: 10.3315/jdcr.2017.1242. eCollection 2017 Mar 31.

3.

Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

Jensen DK, Villumsen A, Skytte AB, Madsen MG, Sommerlund M, Bendstrup E.

Eur Clin Respir J. 2017 Feb 20;4(1):1292378. doi: 10.1080/20018525.2017.1292378. eCollection 2017. Review.

4.

Structured assessment and followup for patients with hereditary kidney tumour syndromes.

Lattouf JB, Pautler SE, Reaume MN, Kim RH, Care M, Green J, So A, Violette PD, Saliba I, Major P, Silver S, Leicht R, Basiuk J, Tanguay S, Jewett MA, Drachenberg D; Kidney Cancer Research Network of Canada.

Can Urol Assoc J. 2016 Jul-Aug;10(7-8):E214-E222. doi: 10.5489/cuaj.3798. Epub 2016 Jul 12.

5.

Hereditary Renal Tumor Syndromes: Update on Diagnosis and Management.

Gaur S, Turkbey B, Choyke P.

Semin Ultrasound CT MR. 2017 Feb;38(1):59-71. doi: 10.1053/j.sult.2016.10.002. Epub 2016 Oct 14.

PMID:
28237281
6.

Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.

Hao S, Long F, Sun F, Liu T, Li D, Jiang S.

BMC Pulm Med. 2017 Feb 21;17(1):43. doi: 10.1186/s12890-017-0383-9.

7.

Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.

Park HJ, Park CH, Lee SE, Lee GD, Byun MK, Lee S, Lee KA, Kim TH, Kim SH, Yang SY, Kim HJ, Ahn CM.

PLoS One. 2017 Feb 2;12(2):e0170713. doi: 10.1371/journal.pone.0170713. eCollection 2017.

8.

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 9;36(1):4. doi: 10.1186/s40880-016-0172-5.

9.

Genetic predisposition to kidney cancer.

Schmidt LS, Linehan WM.

Semin Oncol. 2016 Oct;43(5):566-574. doi: 10.1053/j.seminoncol.2016.09.001. Epub 2016 Sep 22. Review.

PMID:
27899189
10.

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.

11.

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective.

Gupta N, Langenderfer D, McCormack FX, Schauer DP, Eckman MH.

Ann Am Thorac Soc. 2017 Jan;14(1):17-25. doi: 10.1513/AnnalsATS.201606-459OC.

PMID:
27737563
12.

Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

Johannesma PC, van de Beek I, van der Wel JW, Paul MA, Houweling AC, Jonker MA, van Waesberghe JH, Reinhard R, Starink TM, van Moorselaar RJ, Menko FH, Postmus PE.

Springerplus. 2016 Sep 7;5(1):1506. doi: 10.1186/s40064-016-3009-4. eCollection 2016.

13.

Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.

Burkett A, Coffey N, Tomiak E, Voduc N.

Respir Med Case Rep. 2016 Aug 23;19:106-8. doi: 10.1016/j.rmcr.2016.08.006. eCollection 2016.

14.

Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.

Kenyon EJ, Luijten MN, Gill H, Li N, Rawlings M, Bull JC, Hadzhiev Y, van Steensel MA, Maher E, Mueller F.

BMC Dev Biol. 2016 Jul 8;16(1):23. doi: 10.1186/s12861-016-0119-8.

15.

Koenen's tumor and facial angiofibromas in a case of Birt-Hogg-Dubé syndrome: A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex.

DiCicco B, Johnson W, Allred J, Soldano AC, Ramsdell WM.

JAAD Case Rep. 2016 May 25;2(3):196-8. doi: 10.1016/j.jdcr.2016.03.014. eCollection 2016 May. No abstract available.

16.

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.

17.

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 27;17(1):64. doi: 10.1186/s12931-016-0377-9.

18.

Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.

Miura K, Kondo R, Kurai M, Ishii K.

Surg Case Rep. 2015 Dec;1(1):17. doi: 10.1186/s40792-015-0014-8. Epub 2015 Feb 18.

19.

Lst4, the yeast Fnip1/2 orthologue, is a DENN-family protein.

Pacitto A, Ascher DB, Wong LH, Blaszczyk BK, Nookala RK, Zhang N, Dokudovskaya S, Levine TP, Blundell TL.

Open Biol. 2015 Dec;5(12):150174. doi: 10.1098/rsob.150174.

20.

Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

Johannesma PC, Houweling AC, Menko FH, van de Beek I, Reinhard R, Gille JJ, van Waesberghe JT, Thunnissen E, Starink TM, Postmus PE, van Moorselaar RJ.

Fam Cancer. 2016 Apr;15(2):297-300. doi: 10.1007/s10689-015-9853-5.

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