-
1
-
-
0034821623
-
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
-
Schmidt LS, Warren MB, Nickerson ML et al. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001 69 : 876 882.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 876-882
-
-
Schmidt, L.S.1
Warren, M.B.2
Nickerson, M.L.3
-
2
-
-
0035939821
-
Birt-Hogg-Dubé syndrome: Mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2
-
Khoo SK, Bradley M, Wong FK et al. Birt-Hogg-Dubé syndrome: Mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 2001 20 : 5239 5242.
-
(2001)
Oncogene
, vol.20
, pp. 5239-5242
-
-
Khoo, S.K.1
Bradley, M.2
Wong, F.K.3
-
3
-
-
0000939691
-
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 et al. 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. Cancer Cell 2002 2 : 157 164.
-
(2002)
Cancer Cell
, vol.2
, pp. 157-164
-
-
Nickerson, M.L.1
Warren, M.B.2
Toro, J.R.3
-
4
-
-
0017760671
-
Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons
-
Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977 113 : 1674 1677.
-
(1977)
Arch Dermatol
, vol.113
, pp. 1674-1677
-
-
Birt, A.R.1
Hogg, G.R.2
Dubé, W.J.3
-
5
-
-
21544474394
-
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults
-
Graham RB, Nolasco M, Peterlin B et al. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 2005 172 : 39 44.
-
(2005)
Am J Respir Crit Care Med
, vol.172
, pp. 39-44
-
-
Graham, R.B.1
Nolasco, M.2
Peterlin, B.3
-
6
-
-
33845413247
-
Birt-Hogg-Dubé syndrome: Clinicopathologic findings and genetic alterations
-
Adley BP, Smith ND, Nayar R et al. Birt-Hogg-Dubé syndrome: Clinicopathologic findings and genetic alterations. Arch Pathol Lab Med 2006 130 : 1865 1870.
-
(2006)
Arch Pathol Lab Med
, vol.130
, pp. 1865-1870
-
-
Adley, B.P.1
Smith, N.D.2
Nayar, R.3
-
7
-
-
34548833570
-
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax
-
Gunji Y, Akiyoshi T, Sato T et al. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet 2007 44 : 588 593.
-
(2007)
J Med Genet
, vol.44
, pp. 588-593
-
-
Gunji, Y.1
Akiyoshi, T.2
Sato, T.3
-
8
-
-
34248350779
-
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome
-
Toro JR, Pautler SE, Stewart L et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med 2007 175 : 1044 1053.
-
(2007)
Am J Respir Crit Care Med
, vol.175
, pp. 1044-1053
-
-
Toro, J.R.1
Pautler, S.E.2
Stewart, L.3
-
9
-
-
0024587286
-
Fibrofolliculomas, tricodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis
-
Rongioletti F, Hazini R, Gianotti G et al. Fibrofolliculomas, tricodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis. Clin Exp Dermatol 1989 14 : 72 4.
-
(1989)
Clin Exp Dermatol
, vol.14
, pp. 72-4
-
-
Rongioletti, F.1
Hazini, R.2
Gianotti, G.3
-
10
-
-
0036122090
-
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome
-
Zbar B, Alvord WG, Glenn G et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 2002 11 : 393 400.
-
(2002)
Cancer Epidemiol Biomarkers Prev
, vol.11
, pp. 393-400
-
-
Zbar, B.1
Alvord, W.G.2
Glenn, G.3
-
11
-
-
0141533240
-
Birt-Hogg-Dube' syndrome: A review of the literature and the differential diagnosis of firm facial papules
-
Vincent A, Farley M, Chan E et al. Birt-Hogg-Dube' syndrome: A review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol 2003 49 : 698 705.
-
(2003)
J Am Acad Dermatol
, vol.49
, pp. 698-705
-
-
Vincent, A.1
Farley, M.2
Chan, E.3
-
12
-
-
37049023196
-
Birt-Hogg-Dubé syndrome: Clinical and genetic studies of 20 families
-
Leter EM, Koopmans AK, Gille JJ et al. Birt-Hogg-Dubé syndrome: Clinical and genetic studies of 20 families. J Invest Dermatol 2008 128 : 45 9.
-
(2008)
J Invest Dermatol
, vol.128
, pp. 45-9
-
-
Leter, E.M.1
Koopmans, A.K.2
Gille, J.J.3
-
13
-
-
3342906998
-
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues
-
Warren MB, Torres-Cabala CA, Turner ML et al. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Mod Pathol 2004 17 : 998 1011.
-
(2004)
Mod Pathol
, vol.17
, pp. 998-1011
-
-
Warren, M.B.1
Torres-Cabala, C.A.2
Turner, M.L.3
-
14
-
-
33847034141
-
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients
-
van Steensel MA, Verstraeten VL, Frank J et al. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. J Invest Dermatol 2007 127 : 588 593.
-
(2007)
J Invest Dermatol
, vol.127
, pp. 588-593
-
-
Van Steensel, M.A.1
Verstraeten, V.L.2
Frank, J.3
-
15
-
-
21044457377
-
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome
-
Schmidt LS, Nickerson ML, Warren MB et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet 2005 76 : 1023 1033.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1023-1033
-
-
Schmidt, L.S.1
Nickerson, M.L.2
Warren, M.B.3
-
16
-
-
21444432561
-
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube'-associated renal tumors
-
Vocke C, Yang Y, Pavlovich CP et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube'-associated renal tumors. J Natl Cancer Inst 2005 97 : 931 935.
-
(2005)
J Natl Cancer Inst
, vol.97
, pp. 931-935
-
-
Vocke, C.1
Yang, Y.2
Pavlovich, C.P.3
-
17
-
-
13844289132
-
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax
-
Painter JN, Tapanainen H, Somer M et al. A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet 2005 76 : 522 527.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 522-527
-
-
Painter, J.N.1
Tapanainen, H.2
Somer, M.3
-
18
-
-
33645981272
-
Pleuropulmonary pathology of Birt-Hogg-Dubé syndrome
-
Butnor KJ, Guinee DG Jr. Pleuropulmonary pathology of Birt-Hogg-Dubé syndrome. Am J Surg Pathol 2006 30 : 395 399.
-
(2006)
Am J Surg Pathol
, vol.30
, pp. 395-399
-
-
Butnor, K.J.1
Guinee, Jr.D.G.2
-
19
-
-
34250305530
-
LIM kinase and slingshot are critical for neurite extension
-
Endo M, Ohashi K, Mizuno K. LIM kinase and slingshot are critical for neurite extension. J Biol Chem 2007 282 : 13 692 702.
-
(2007)
J Biol Chem
, vol.282
, pp. 13692-702
-
-
Endo, M.1
Ohashi, K.2
Mizuno, K.3
-
20
-
-
18744395564
-
Non-neoplastic disorders of the lower respiratory tract
-
In. King, D.W. Sobin, L.H. Stocker, J.T. Wagner, B. eds. Washington, DC. American Registry of Pathology and Armed Forces Institute of Pathology
-
Travis WD, Colby TV, Koss MN et al. Non-neoplastic disorders of the lower respiratory tract. In : King DW, Sobin LH, Stocker JT, Wagner B, eds. Atlas of Nontumor Pathology. Washington, DC : American Registry of Pathology and Armed Forces Institute of Pathology, 2002 901 921.
-
(2002)
Atlas of Nontumor Pathology.
, pp. 901-921
-
-
Travis, W.D.1
Colby, T.V.2
Koss, M.N.3
-
21
-
-
33750293584
-
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
-
Baba M, Hong SB, Sharma N et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci USA 2006 103 : 15 552 7.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 15552-7
-
-
Baba, M.1
Hong, S.B.2
Sharma, N.3
-
22
-
-
70349478965
-
Pathological characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome
-
Kumasaka T, Hayashi T, Minami K et al. Pathological characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome. Familial Cancer 2008 7 : S10.
-
(2008)
Familial Cancer
, vol.7
, pp. 10
-
-
Kumasaka, T.1
Hayashi, T.2
Minami, K.3
-
23
-
-
33645579696
-
Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome
-
Kouchi M, Okimoto K, Matsumoto I et al. Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome. Virchows Arch 2006 448 : 463 471.
-
(2006)
Virchows Arch
, vol.448
, pp. 463-471
-
-
Kouchi, M.1
Okimoto, K.2
Matsumoto, I.3
-
24
-
-
38449122032
-
Kidney-targeted Birt-Hogg-Dubé gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys
-
Baba M, Furihata M, Hong SB et al. Kidney-targeted Birt-Hogg-Dubé gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst 2008 100 : 140 154.
-
(2008)
J Natl Cancer Inst
, vol.100
, pp. 140-154
-
-
Baba, M.1
Furihata, M.2
Hong, S.B.3
-
25
-
-
45249103326
-
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 et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: A new series of 50 families and a review of published reports. J Med Genet 2008 45 : 321 331.
-
(2008)
J Med Genet
, vol.45
, pp. 321-331
-
-
Toro, J.R.1
Wei, M.H.2
Glenn, G.M.3
-
26
-
-
20244378963
-
Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome
-
Pavlovich CP, Grubb RL 3rd., Hurley K et al. Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome. J Urol 2005 173 : 1482 1486.
-
(2005)
J Urol
, vol.173
, pp. 1482-1486
-
-
Pavlovich, C.P.1
Grubb III, R.L.2
Hurley, K.3
|