Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 143

1.

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. doi: 10.1002/gcc.20872. Epub 2011 Mar 15.

2.

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.

3.

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.

4.

Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene.

Alonso-González J, Rodríguez-Pazos L, Fernández-Redondo V, Vega-Gliemmo A, Toribio J.

Int J Dermatol. 2011 Aug;50(8):968-71. doi: 10.1111/j.1365-4632.2010.04854.x.

PMID:
21781069
5.

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. doi: 10.1111/j.1399-0004.2010.01480.x.

PMID:
20618353
6.

Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.

Hasumi H, Baba M, Hasumi Y, Furuya M, Yao M.

Int J Urol. 2016 Mar;23(3):204-10. doi: 10.1111/iju.13015. Epub 2015 Nov 25. Review.

7.

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). pii: e13025. Epub 2016 Nov 15.

8.

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, Gunji Y, Kikkawa M, Iwakami S, Hino O, Takahashi K, Seyama K.

J Med Genet. 2010 Apr;47(4):281-7. doi: 10.1136/jmg.2009.070565.

9.

Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.

Furuya M, Hong SB, Tanaka R, Kuroda N, Nagashima Y, Nagahama K, Suyama T, Yao M, Nakatani Y.

Cancer Sci. 2015 Mar;106(3):315-23. doi: 10.1111/cas.12601. Epub 2015 Feb 17.

10.

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
11.

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.

12.

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
13.

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.

Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, Sääf A, Zickert P, Aly M, Bergerheim U, Nordenskjöld M, Gad S, Giraud S, Denoux Y, Yonneau L, Méjean A, Vasiliu V, Richard S, MacKeigan JP, Teh BT, Furge KA.

BMC Med Genomics. 2010 Dec 16;3:59. doi: 10.1186/1755-8794-3-59.

14.

[Birt-Hogg-Dubé syndrome].

Křepelová A, Puchmajerová A, Vasovčák P, Chocholatý M.

Klin Onkol. 2012;25 Suppl:S18-20. Czech.

PMID:
22920201
15.

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.

16.

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
17.

Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene.

Mota-Burgos A, Acosta EH, Márquez FV, Mendiola M, Herrera-Ceballos E.

Int J Dermatol. 2013 Mar;52(3):323-6. doi: 10.1111/j.1365-4632.2012.05742.x.

PMID:
23414156
18.

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
19.

[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
20.

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. doi: 10.1111/j.1365-2133.2009.09517.x. Epub 2009 Sep 26.

PMID:
19785621

Supplemental Content

Support Center