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Items: 1 to 20 of 638

1.

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM.

Am J Hum Genet. 2005 Jun;76(6):1023-33. Epub 2005 Apr 25.

2.

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. doi: 10.1136/jmg.2007.054304. Epub 2008 Jan 30. Review.

3.

Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.

Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, Seyama K.

J Med Genet. 2007 Sep;44(9):588-93. Epub 2007 May 11.

4.

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Lévy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjöld M, Richard S.

J Med Genet. 2002 Dec;39(12):906-12. Erratum in: J Med Genet. 2003 Feb;40(2):150..

5.

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS.

Cancer Cell. 2002 Aug;2(2):157-64.

6.

Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome.

Furuya M, Hasumi H, Baba M, Tanaka R, Iribe Y, Onishi T, Nagashima Y, Nakatani Y, Isono Y, Yao M.

Lab Invest. 2017 Mar;97(3):343-351. doi: 10.1038/labinvest.2016.137. Epub 2016 Dec 19.

PMID:
27991910
7.

Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.

Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS.

Mod Pathol. 2004 Aug;17(8):998-1011.

8.

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER.

J Med Genet. 2010 Jun;47(6):385-90. doi: 10.1136/jmg.2009.073304.

PMID:
20522427
9.

High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

Vocke CD, Yang Y, Pavlovich CP, Schmidt LS, Nickerson ML, Torres-Cabala CA, Merino MJ, Walther MM, Zbar B, Linehan WM.

J Natl Cancer Inst. 2005 Jun 15;97(12):931-5. Erratum in: J Natl Cancer Inst. 2005 Jul 20;97(14):1096.

PMID:
15956655
10.

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.

Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH.

J Invest Dermatol. 2008 Jan;128(1):45-9. Epub 2007 Jul 5.

11.

Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma.

Murakami T, Sano F, Huang Y, Komiya A, Baba M, Osada Y, Nagashima Y, Kondo K, Nakaigawa N, Miura T, Kubota Y, Yao M, Kishida T.

J Pathol. 2007 Apr;211(5):524-31.

PMID:
17323425
12.

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.

13.

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 6;105(12):1912-9. doi: 10.1038/bjc.2011.463.

14.

Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L.

Clin Genet. 2008 Aug;74(2):178-83. doi: 10.1111/j.1399-0004.2008.01030.x. Epub 2008 May 25.

PMID:
18505456
15.

Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.

Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH.

J Am Acad Dermatol. 2012 Feb;66(2):259.e1-9. doi: 10.1016/j.jaad.2010.11.039. Epub 2011 Jul 26.

PMID:
21794948
16.

Birt-Hogg-Dubé gene mutations in human endometrial carcinomas with microsatellite instability.

Fujii H, Jiang W, Matsumoto T, Miyai K, Sashara K, Ohtsuji N, Hino O.

J Pathol. 2006 Jul;209(3):328-35.

PMID:
16691634
17.

[Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome].

Van Denhove A, Guillot-Pouget I, Giraud S, Isaac S, Freymond N, Calender A, Pacheco Y, Devouassoux G.

Rev Mal Respir. 2011 Mar;28(3):355-9. doi: 10.1016/j.rmr.2010.08.015. Epub 2011 Feb 23. French.

PMID:
21482341
18.
19.

The impact of germline BHD mutation on histological concordance and clinical treatment of patients with bilateral renal masses and known unilateral oncocytoma.

Boris RS, Benhammou J, Merino M, Pinto PA, Linehan WM, Bratslavsky G.

J Urol. 2011 Jun;185(6):2050-5. doi: 10.1016/j.juro.2011.02.051. Epub 2011 Apr 15.

20.

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 21;17(1):85.

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