-
1
-
-
0017760671
-
Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons
-
Birt A.R., Hogg G.R., and Dubé W.J. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 113 (1977) 1674-1677
-
(1977)
Arch Dermatol
, vol.113
, pp. 1674-1677
-
-
Birt, A.R.1
Hogg, G.R.2
Dubé, W.J.3
-
2
-
-
0035939821
-
Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2
-
Khoo S.K., Bradley M., Wong F.K., Hedblad M.-A., Nordenskjöld M., and Teh B.T. Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2. Oncogene 20 (2001) 5239-5242
-
(2001)
Oncogene
, vol.20
, pp. 5239-5242
-
-
Khoo, S.K.1
Bradley, M.2
Wong, F.K.3
Hedblad, M.-A.4
Nordenskjöld, M.5
Teh, B.T.6
-
3
-
-
0034821623
-
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
-
Schmidt L.S., Warren M.B., Nickerson M.L., et al. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 69 (2001) 876-882
-
(2001)
Am J Hum Genet
, vol.69
, pp. 876-882
-
-
Schmidt, L.S.1
Warren, M.B.2
Nickerson, M.L.3
-
4
-
-
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 M.L., Warren M.B., Toro J.R., 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 2 (2002) 157-164
-
(2002)
Cancer Cell
, vol.2
, pp. 157-164
-
-
Nickerson, M.L.1
Warren, M.B.2
Toro, J.R.3
-
5
-
-
21044457377
-
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome
-
Schmidt L.S., Nickerson M.L., Warren M.B., et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet 76 (2005) 1023-1033
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1023-1033
-
-
Schmidt, L.S.1
Nickerson, M.L.2
Warren, M.B.3
-
6
-
-
21544474394
-
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults
-
Graham R.B., Nolasko M., Peterlin B., and Garcia C.K. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 172 (2005) 39-44
-
(2005)
Am J Respir Crit Care Med
, vol.172
, pp. 39-44
-
-
Graham, R.B.1
Nolasko, M.2
Peterlin, B.3
Garcia, C.K.4
-
7
-
-
45249103326
-
BHD mutations, clinial and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports
-
Toro J.R., Wei M.-H., Glenn G.M., et al. BHD mutations, clinial and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet 45 (2008) 321-331
-
(2008)
J Med Genet
, vol.45
, pp. 321-331
-
-
Toro, J.R.1
Wei, M.-H.2
Glenn, G.M.3
-
8
-
-
47749088273
-
A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome
-
Misago N., Joh K., Yatsuki H., Soejima H., and Narisawa Y. A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome. Acta Derm Venereol 88 (2008) 423-425
-
(2008)
Acta Derm Venereol
, vol.88
, pp. 423-425
-
-
Misago, N.1
Joh, K.2
Yatsuki, H.3
Soejima, H.4
Narisawa, Y.5
-
9
-
-
58849129709
-
Novel mutations in the folliculin gene associated with spontaneous pneumothorax
-
Fröhlich B.A., Zeitz C., Mátyás G., et al. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. Eur Respir J 32 (2008) 1316-1320
-
(2008)
Eur Respir J
, vol.32
, pp. 1316-1320
-
-
Fröhlich, B.A.1
Zeitz, C.2
Mátyás, G.3
-
10
-
-
37049023196
-
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families
-
Leter E.M., Koopmans A.K., Gille J.J.P., et al. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. J Invest Dermatol 128 (2008) 45-49
-
(2008)
J Invest Dermatol
, vol.128
, pp. 45-49
-
-
Leter, E.M.1
Koopmans, A.K.2
Gille, J.J.P.3
-
11
-
-
53249113792
-
Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN
-
Woodward E.R., Ricketts C., Killick P., et al. Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. Clin Cancer Res 14 (2008) 5925-5930
-
(2008)
Clin Cancer Res
, vol.14
, pp. 5925-5930
-
-
Woodward, E.R.1
Ricketts, C.2
Killick, P.3
-
13
-
-
0032718182
-
Birt-Hogg-Dubé syndrome. A novel marker of kidney neoplasia
-
Toro J.R., Glenn G., Duray P., et al. Birt-Hogg-Dubé syndrome. A novel marker of kidney neoplasia. Arch Dermatol 135 (1999) 1195-1202
-
(1999)
Arch Dermatol
, vol.135
, pp. 1195-1202
-
-
Toro, J.R.1
Glenn, G.2
Duray, P.3
-
14
-
-
0036122090
-
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome
-
Zbar B., Alvord W.G., Glenn G., et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 11 (2002) 393-400
-
(2002)
Cancer Epidemiol Biomarkers Prev
, vol.11
, pp. 393-400
-
-
Zbar, B.1
Alvord, W.G.2
Glenn, G.3
-
16
-
-
20244378963
-
Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome
-
Pavlovich C.P., Grubb R.L., Hurley K., et al. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol 173 (2005) 1482-1486
-
(2005)
J Urol
, vol.173
, pp. 1482-1486
-
-
Pavlovich, C.P.1
Grubb, R.L.2
Hurley, K.3
-
17
-
-
34248350779
-
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome
-
Toro J.R., Pautler S.E., 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 175 (2007) 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
-
18
-
-
0036783597
-
Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dubé syndrome
-
Durrani O.H., Ng L., and Bihrle W. Chromophobe renal cell carcinoma in a patient with the Birt-Hogg-Dubé syndrome. J Urol 168 (2002) 1484-1485
-
(2002)
J Urol
, vol.168
, pp. 1484-1485
-
-
Durrani, O.H.1
Ng, L.2
Bihrle, W.3
-
19
-
-
63449124023
-
An unusual case of Birt-Hogg-Dubé syndrome with renal involvement
-
Janitzky A., Reiher F., Porsch M., Grube C., Evert M., and Liehr U.-B. An unusual case of Birt-Hogg-Dubé syndrome with renal involvement. Urol J 5 (2008) 272-274
-
(2008)
Urol J
, vol.5
, pp. 272-274
-
-
Janitzky, A.1
Reiher, F.2
Porsch, M.3
Grube, C.4
Evert, M.5
Liehr, U.-B.6
-
20
-
-
66549113125
-
Early onset of renal cancer in a family with Birt-Hogg-Dube syndrome
-
Kluijt I., de Jong D., Teertstra H.J., et al. Early onset of renal cancer in a family with Birt-Hogg-Dube syndrome. Clin Genet 75 (2009) 537-543
-
(2009)
Clin Genet
, vol.75
, pp. 537-543
-
-
Kluijt, I.1
de Jong, D.2
Teertstra, H.J.3
-
21
-
-
13844289132
-
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax
-
Painter J.N., Tapanainen H., Somer M., Tukiainen P., and Aittomäki K. A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet 76 (2005) 522-527
-
(2005)
Am J Hum Genet
, vol.76
, pp. 522-527
-
-
Painter, J.N.1
Tapanainen, H.2
Somer, M.3
Tukiainen, P.4
Aittomäki, K.5
-
22
-
-
33747329830
-
Diagnosis of Birt-Hogg-Dubé syndrome in a patient with spontaneous pneumothorax
-
Pittet O., Christodoulou M., Staneczek O., and Ris H.-B. Diagnosis of Birt-Hogg-Dubé syndrome in a patient with spontaneous pneumothorax. Ann Thorac Surg 82 (2006) 1123-1125
-
(2006)
Ann Thorac Surg
, vol.82
, pp. 1123-1125
-
-
Pittet, O.1
Christodoulou, M.2
Staneczek, O.3
Ris, H.-B.4
-
23
-
-
33847110810
-
A 48-year-old woman with skin lesions, renal masses, and spontaneous pneumothorax
-
Kalhan R., Yeldandi A.V., and Jain M. A 48-year-old woman with skin lesions, renal masses, and spontaneous pneumothorax. Chest 131 (2007) 624-627
-
(2007)
Chest
, vol.131
, pp. 624-627
-
-
Kalhan, R.1
Yeldandi, A.V.2
Jain, M.3
-
24
-
-
33845751044
-
Radiological findings in Birt-Hogg-Dubé syndrome: a rare differential for pulmonary cysts and renal tumors
-
Gupta P., Eshaghi N., Kamba T.T., Ghole V., and Garcia-Morales F. Radiological findings in Birt-Hogg-Dubé syndrome: a rare differential for pulmonary cysts and renal tumors. Clin Imaging 31 (2007) 40-43
-
(2007)
Clin Imaging
, vol.31
, pp. 40-43
-
-
Gupta, P.1
Eshaghi, N.2
Kamba, T.T.3
Ghole, V.4
Garcia-Morales, F.5
-
25
-
-
60849119562
-
Recurrent spontaneous pneumothorax as the presenting sign of the Birt-Hogg-Dubé syndrome
-
Diamond J.M., and Kotloff R.M. Recurrent spontaneous pneumothorax as the presenting sign of the Birt-Hogg-Dubé syndrome. Ann Intern Med 150 (2009) 289-290
-
(2009)
Ann Intern Med
, vol.150
, pp. 289-290
-
-
Diamond, J.M.1
Kotloff, R.M.2
-
26
-
-
21444432561
-
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors
-
Vocke C.D., Yang Y., Pavlovich C.P., et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst 97 (2005) 931-935
-
(2005)
J Natl Cancer Inst
, vol.97
, pp. 931-935
-
-
Vocke, C.D.1
Yang, Y.2
Pavlovich, C.P.3
-
27
-
-
3342906998
-
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues
-
Warren M.B., Torres-Cabala C.A., Turner M.L., et al. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Mod Pathol 17 (2004) 998-1011
-
(2004)
Mod Pathol
, vol.17
, pp. 998-1011
-
-
Warren, M.B.1
Torres-Cabala, C.A.2
Turner, M.L.3
-
28
-
-
33847034141
-
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients
-
van Steensel M.A., Verstraeten V.L., 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 127 (2007) 588-593
-
(2007)
J Invest Dermatol
, vol.127
, pp. 588-593
-
-
van Steensel, M.A.1
Verstraeten, V.L.2
Frank, J.3
-
29
-
-
10744230490
-
A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
-
Okimoto K., Sakurai J., Kobayashi T., et al. A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci USA 101 (2004) 2023-2027
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 2023-2027
-
-
Okimoto, K.1
Sakurai, J.2
Kobayashi, T.3
-
30
-
-
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., Tanaka K., Yasuba M., and Hino O. Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome. Virchows Arch 448 (2006) 463-471
-
(2006)
Virchows Arch
, vol.448
, pp. 463-471
-
-
Kouchi, M.1
Okimoto, K.2
Matsumoto, I.3
Tanaka, K.4
Yasuba, M.5
Hino, O.6
-
31
-
-
33646703098
-
Transgenic rescue from embryonic lethality and renal carcinogenesis in the Nihon rat model by introduction of a wild-type Bhd gene
-
Togashi Y., Kobayashi T., Momose S., Ueda M., Okimoto K., and Hino O. Transgenic rescue from embryonic lethality and renal carcinogenesis in the Nihon rat model by introduction of a wild-type Bhd gene. Oncogene 25 (2006) 2885-2889
-
(2006)
Oncogene
, vol.25
, pp. 2885-2889
-
-
Togashi, Y.1
Kobayashi, T.2
Momose, S.3
Ueda, M.4
Okimoto, K.5
Hino, O.6
-
32
-
-
39649103414
-
Postoperative fibromatosis-type fibromas in the Bhd gene mutant (Nihon) rat
-
Kouchi M., Okimoto K., Matsumoto I., et al. Postoperative fibromatosis-type fibromas in the Bhd gene mutant (Nihon) rat. Exp Toxicol Pathol 59 (2008) 273-279
-
(2008)
Exp Toxicol Pathol
, vol.59
, pp. 273-279
-
-
Kouchi, M.1
Okimoto, K.2
Matsumoto, I.3
-
33
-
-
0345530997
-
A mutation in the canine BHD gen is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog
-
Lingaas F., Comstock K.E., Kirkness E.F., et al. A mutation in the canine BHD gen is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Mol Genet 12 (2003) 3043-3053
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3043-3053
-
-
Lingaas, F.1
Comstock, K.E.2
Kirkness, E.F.3
-
34
-
-
39149089274
-
Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs
-
Bønsdorff T.B., Jansen J.H., and Lingaas F. Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs. Mamm Genome 19 (2008) 121-126
-
(2008)
Mamm Genome
, vol.19
, pp. 121-126
-
-
Bønsdorff, T.B.1
Jansen, J.H.2
Lingaas, F.3
-
35
-
-
67349239331
-
Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis
-
Bønsdorff T.B., Jansen J.H., Thomassen R.F., and Lingaas F. Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis. Mamm Genome 20 (2009) 315-320
-
(2009)
Mamm Genome
, vol.20
, pp. 315-320
-
-
Bønsdorff, T.B.1
Jansen, J.H.2
Thomassen, R.F.3
Lingaas, F.4
-
36
-
-
11244297916
-
Dysregulation of the TSC-mTOR pathway in human disease
-
Inoki K., Corradetti M.N., and Guan K.-L. Dysregulation of the TSC-mTOR pathway in human disease. Nature Genet 37 (2005) 19-24
-
(2005)
Nature Genet
, vol.37
, pp. 19-24
-
-
Inoki, K.1
Corradetti, M.N.2
Guan, K.-L.3
-
37
-
-
58249144435
-
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
-
van Steensel M.A., van Geel M., Badeloe S., Poblete-Gutiérrez P., and Frank J. Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?. Exp Dermatol 18 (2009) 185-191
-
(2009)
Exp Dermatol
, vol.18
, pp. 185-191
-
-
van Steensel, M.A.1
van Geel, M.2
Badeloe, S.3
Poblete-Gutiérrez, P.4
Frank, J.5
-
38
-
-
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 S.-B., 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 103 (2006) 15552-15557
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 15552-15557
-
-
Baba, M.1
Hong, S.-B.2
Sharma, N.3
-
39
-
-
42649092576
-
Identification and characterization of a novel folliculin-interacting protein FNIP2
-
Hasumi H., Baba M., Hong S.B., et al. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene 415 (2008) 60-67
-
(2008)
Gene
, vol.415
, pp. 60-67
-
-
Hasumi, H.1
Baba, M.2
Hong, S.B.3
-
40
-
-
51649122895
-
Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein
-
Takagi Y., Kobayashi T., Shiono M., et al. Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. Oncogene 27 (2008) 5339-5347
-
(2008)
Oncogene
, vol.27
, pp. 5339-5347
-
-
Takagi, Y.1
Kobayashi, T.2
Shiono, M.3
-
41
-
-
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 S.-B., 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 100 (2008) 140-154
-
(2008)
J Natl Cancer Inst
, vol.100
, pp. 140-154
-
-
Baba, M.1
Furihata, M.2
Hong, S.-B.3
-
42
-
-
55849108854
-
Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia
-
Chen J., Futami K., Petillo D., et al. Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PloS ONE 3 (2008) 3581
-
(2008)
PloS ONE
, vol.3
, pp. 3581
-
-
Chen, J.1
Futami, K.2
Petillo, D.3
-
43
-
-
34548359242
-
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe
-
van Slegtenhorst M., Khabibullin D., Hartman T.R., Nicolas E., Kruger W.D., and Henske E.P. The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. J Biol Chem 282 (2007) 24583-24590
-
(2007)
J Biol Chem
, vol.282
, pp. 24583-24590
-
-
van Slegtenhorst, M.1
Khabibullin, D.2
Hartman, T.R.3
Nicolas, E.4
Kruger, W.D.5
Henske, E.P.6
-
44
-
-
64049090204
-
The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis
-
Hartman T.R., Nicolas E., Klein-Szanto A., et al. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene 28 (2009) 1594-1604
-
(2009)
Oncogene
, vol.28
, pp. 1594-1604
-
-
Hartman, T.R.1
Nicolas, E.2
Klein-Szanto, A.3
-
45
-
-
0036909242
-
Clinical and genetic studies of Birt-Hogg-Dubé syndrome
-
Khoo S.K., Giraud S., Kahnoski K., et al. Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet 39 (2002) 906-912
-
(2002)
J Med Genet
, vol.39
, pp. 906-912
-
-
Khoo, S.K.1
Giraud, S.2
Kahnoski, K.3
-
46
-
-
69549121814
-
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome
-
Wei M.H., Blake P.W., Shevchenko Y.O., and Toro J.R. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. Hum Mutat 30 (2009) 880-890
-
(2009)
Hum Mutat
, vol.30
, pp. 880-890
-
-
Wei, M.H.1
Blake, P.W.2
Shevchenko, Y.O.3
Toro, J.R.4
-
47
-
-
74049133329
-
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene
-
10.1002/humu.21130 published online Oct 2.
-
Lim D.H., Rehal P.K., Nahorski M.S., et al. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. Hum Mutat (2009) 10.1002/humu.21130 published online Oct 2.
-
(2009)
Hum Mutat
-
-
Lim, D.H.1
Rehal, P.K.2
Nahorski, M.S.3
-
48
-
-
0019458182
-
Multiple fibrofolliculomas with trichodiscomas and acrochordons
-
Fujita W.H., Barr R.J., and Headley J.L. Multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 117 (1981) 32-35
-
(1981)
Arch Dermatol
, vol.117
, pp. 32-35
-
-
Fujita, W.H.1
Barr, R.J.2
Headley, J.L.3
-
49
-
-
0032942317
-
Birt-Hogg-Dubé-syndrome and Hornstein-Knickenberg-syndrome are the same: different sectioning technique as the cause of different histology
-
Schulz T., and Hartschuh W. Birt-Hogg-Dubé-syndrome and Hornstein-Knickenberg-syndrome are the same: different sectioning technique as the cause of different histology. J Cutan Pathol 26 (1999) 55-61
-
(1999)
J Cutan Pathol
, vol.26
, pp. 55-61
-
-
Schulz, T.1
Hartschuh, W.2
-
50
-
-
0141533240
-
Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules
-
Vincent A., Farley M., Chan E., and James W.D. Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol 49 (2003) 698-705
-
(2003)
J Am Acad Dermatol
, vol.49
, pp. 698-705
-
-
Vincent, A.1
Farley, M.2
Chan, E.3
James, W.D.4
-
51
-
-
21844473505
-
Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome
-
Schaffer J.V., Gohara M.A., McNiff J.M., Aasi S.Z., and Dvoretzky I. Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 53 (2005) 108-111
-
(2005)
J Am Acad Dermatol
, vol.53
, pp. 108-111
-
-
Schaffer, J.V.1
Gohara, M.A.2
McNiff, J.M.3
Aasi, S.Z.4
Dvoretzky, I.5
-
53
-
-
0021846677
-
Familial multiple trichodiscomas: a clinicopathologic study
-
Starink T.M., Kish L.S., and Meijer C.J. Familial multiple trichodiscomas: a clinicopathologic study. Arch Dermatol 121 (1985) 888-891
-
(1985)
Arch Dermatol
, vol.121
, pp. 888-891
-
-
Starink, T.M.1
Kish, L.S.2
Meijer, C.J.3
-
54
-
-
33644846984
-
Birt-Hogg-Dubé syndrome: a rare cause of pulmonary cysts
-
Souza C.A., Finley R., and Müller N.L. Birt-Hogg-Dubé syndrome: a rare cause of pulmonary cysts. Am J Roentgenol 185 (2005) 1237-1239
-
(2005)
Am J Roentgenol
, vol.185
, pp. 1237-1239
-
-
Souza, C.A.1
Finley, R.2
Müller, N.L.3
-
55
-
-
36649005763
-
Multiple/bilateral renal tumors in patients with Birt-Hogg-Dubé syndrome
-
Fahmy W., Safwat A.S., Bissada N.K., et al. Multiple/bilateral renal tumors in patients with Birt-Hogg-Dubé syndrome. Int Urol Nephrol 39 (2007) 995-999
-
(2007)
Int Urol Nephrol
, vol.39
, pp. 995-999
-
-
Fahmy, W.1
Safwat, A.S.2
Bissada, N.K.3
-
56
-
-
0034704734
-
Spontaneous pneumothorax
-
Sahn S.A., and Heffner J.E. Spontaneous pneumothorax. N Engl J Med 342 (2000) 868-874
-
(2000)
N Engl J Med
, vol.342
, pp. 868-874
-
-
Sahn, S.A.1
Heffner, J.E.2
-
57
-
-
60949090753
-
Cysts, cavities, and honeycombing in multisystem disorders: differential diagnosis and findings on thin-section CT
-
Grant L.A., Babar J., and Griffin N. Cysts, cavities, and honeycombing in multisystem disorders: differential diagnosis and findings on thin-section CT. Clin Radiol 64 (2009) 439-448
-
(2009)
Clin Radiol
, vol.64
, pp. 439-448
-
-
Grant, L.A.1
Babar, J.2
Griffin, N.3
-
58
-
-
33645981272
-
Pleuropulmonary pathology of Birt-Hogg-Dubé syndrome
-
Butnor K.J., and Guinee D.G. Pleuropulmonary pathology of Birt-Hogg-Dubé syndrome. Am J Surg Pathol 30 (2006) 395-399
-
(2006)
Am J Surg Pathol
, vol.30
, pp. 395-399
-
-
Butnor, K.J.1
Guinee, D.G.2
-
59
-
-
34548022855
-
Cystic lung disease in Birt-Hogg-Dubé syndrome
-
Ayo D.S., Aughenbaugh G.L., Yi E.S., et al. Cystic lung disease in Birt-Hogg-Dubé syndrome. Chest 132 (2007) 679-684
-
(2007)
Chest
, vol.132
, pp. 679-684
-
-
Ayo, D.S.1
Aughenbaugh, G.L.2
Yi, E.S.3
-
60
-
-
33749819896
-
A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome
-
Bessis D., Giraud S., and Richard S. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol 155 (2006) 1067-1069
-
(2006)
Br J Dermatol
, vol.155
, pp. 1067-1069
-
-
Bessis, D.1
Giraud, S.2
Richard, S.3
-
61
-
-
34548833570
-
Mutations in the Birt-Hogg-Dubé gene in patients with multiple lung cysts and recurrent pneumothorax
-
Gunji Y., Akiyoshi T., Sato T., et al. Mutations in the Birt-Hogg-Dubé gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet 44 (2007) 588-593
-
(2007)
J Med Genet
, vol.44
, pp. 588-593
-
-
Gunji, Y.1
Akiyoshi, T.2
Sato, T.3
-
62
-
-
47149115342
-
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax
-
Ren H.-Z., Zhu C.-C., Yang C., et al. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clin Genet 74 (2008) 178-183
-
(2008)
Clin Genet
, vol.74
, pp. 178-183
-
-
Ren, H.-Z.1
Zhu, C.-C.2
Yang, C.3
-
63
-
-
69249127570
-
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation
-
Sundaram S., Tasker A.D., and Morrell N.W. Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. Eur Respir J 33 (2009) 1510-1512
-
(2009)
Eur Respir J
, vol.33
, pp. 1510-1512
-
-
Sundaram, S.1
Tasker, A.D.2
Morrell, N.W.3
-
64
-
-
59649104851
-
Folliculin mutations are not associated with severe COPD
-
Cho M.H., Klanderman B.J., Litonjua A.A., Sparrow D., Silverman E.K., and Raby B.A. Folliculin mutations are not associated with severe COPD. BMC Med Genet 9 (2008) 120
-
(2008)
BMC Med Genet
, vol.9
, pp. 120
-
-
Cho, M.H.1
Klanderman, B.J.2
Litonjua, A.A.3
Sparrow, D.4
Silverman, E.K.5
Raby, B.A.6
-
65
-
-
0016770524
-
Perifollicular fibromatosis cutis with polyps of the colon-a cutaneo-intestinal syndrome sui generis
-
Hornstein O.P., and Knickenberg M. Perifollicular fibromatosis cutis with polyps of the colon-a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res 253 (1975) 161-175
-
(1975)
Arch Dermatol Res
, vol.253
, pp. 161-175
-
-
Hornstein, O.P.1
Knickenberg, M.2
-
66
-
-
0029948120
-
Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dubé syndrome
-
Chung J.Y., Ramos-Caro F.A., Beers B., Ford M.J., and Flowers F. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dubé syndrome. Int J Dermatol 35 (1996) 365-367
-
(1996)
Int J Dermatol
, vol.35
, pp. 365-367
-
-
Chung, J.Y.1
Ramos-Caro, F.A.2
Beers, B.3
Ford, M.J.4
Flowers, F.5
-
67
-
-
0033668923
-
Parotid oncocytoma in the Birt-Hogg-Dubé syndrome
-
Liu V., Kwan T., and Page E.H. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 43 (2000) 1120-1122
-
(2000)
J Am Acad Dermatol
, vol.43
, pp. 1120-1122
-
-
Liu, V.1
Kwan, T.2
Page, E.H.3
-
68
-
-
0035188040
-
Birt-Hogg-Dubé syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis
-
Lindor N.M., Hand J., Burch P.A., and Gibson L.E. Birt-Hogg-Dubé syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. Int J Dermatol 40 (2001) 653-656
-
(2001)
Int J Dermatol
, vol.40
, pp. 653-656
-
-
Lindor, N.M.1
Hand, J.2
Burch, P.A.3
Gibson, L.E.4
-
69
-
-
0036440687
-
Birt-Hogg-Dubé syndrome and multinodular goitre
-
Drummond C., Grigoris I., and Dutta B. Birt-Hogg-Dubé syndrome and multinodular goitre. Austr J Dermatol 43 (2002) 301-304
-
(2002)
Austr J Dermatol
, vol.43
, pp. 301-304
-
-
Drummond, C.1
Grigoris, I.2
Dutta, B.3
-
70
-
-
0141867873
-
Birt-Hogg-Dubé syndrome: two patients with neural tissue tumors
-
Vincent A., Farley M., Chan E., and James W.D. Birt-Hogg-Dubé syndrome: two patients with neural tissue tumors. J Am Acad Dermatol 49 (2003) 717-719
-
(2003)
J Am Acad Dermatol
, vol.49
, pp. 717-719
-
-
Vincent, A.1
Farley, M.2
Chan, E.3
James, W.D.4
-
72
-
-
47749095900
-
Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene
-
Palmirotta R., Donati P., Savonarola A., Cota C., Ferroni P., and Guadagni F. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol 18 (2008) 382-386
-
(2008)
Eur J Dermatol
, vol.18
, pp. 382-386
-
-
Palmirotta, R.1
Donati, P.2
Savonarola, A.3
Cota, C.4
Ferroni, P.5
Guadagni, F.6
-
75
-
-
66149118251
-
Birt-Hogg-Dubé syndrome with clear-cell and oncocytic renal tumour and trichoblastoma associated with a novel FLCN mutation
-
Imada K., Dainichi T., Yokomizo A., et al. Birt-Hogg-Dubé syndrome with clear-cell and oncocytic renal tumour and trichoblastoma associated with a novel FLCN mutation. Br J Dermatol 160 (2009) 1335-1362
-
(2009)
Br J Dermatol
, vol.160
, pp. 1335-1362
-
-
Imada, K.1
Dainichi, T.2
Yokomizo, A.3
-
77
-
-
0035157636
-
Hornstein-Knickenberg and Birt-Hogg-Dubé syndrome. Report of a case with spontaneous pneumothorax and aplasia of the left carotid artery
-
Frantzen B., Rose C., Schulz T., Bröcker E.-B., and Hamm H. Hornstein-Knickenberg and Birt-Hogg-Dubé syndrome. Report of a case with spontaneous pneumothorax and aplasia of the left carotid artery. Hautarzt 52 (2001) 1016-1020
-
(2001)
Hautarzt
, vol.52
, pp. 1016-1020
-
-
Frantzen, B.1
Rose, C.2
Schulz, T.3
Bröcker, E.-B.4
Hamm, H.5
-
81
-
-
0035143345
-
Birt-Hogg-Dubé syndrome: treatment of cutaneous manifestations with laser skin resurfacing
-
Jacob C.I., and Dover J.S. Birt-Hogg-Dubé syndrome: treatment of cutaneous manifestations with laser skin resurfacing. Arch Dermatol 137 (2001) 98-99
-
(2001)
Arch Dermatol
, vol.137
, pp. 98-99
-
-
Jacob, C.I.1
Dover, J.S.2
-
83
-
-
34848833255
-
Hyfrecation and curretage as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome
-
Farrant P.B., and Emerson R. Hyfrecation and curretage as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome. Dermatol Surg 33 (2007) 1287-1288
-
(2007)
Dermatol Surg
, vol.33
, pp. 1287-1288
-
-
Farrant, P.B.1
Emerson, R.2
-
84
-
-
0037254446
-
Hereditary renal cancers
-
Choyke P.L., Glenn G.M., Walther M.M., Zbar B., and Linehan W.M. Hereditary renal cancers. Radiology 226 (2003) 33-46
-
(2003)
Radiology
, vol.226
, pp. 33-46
-
-
Choyke, P.L.1
Glenn, G.M.2
Walther, M.M.3
Zbar, B.4
Linehan, W.M.5
-
85
-
-
0029671182
-
Small (≤3-cm) renal masses: detection with CT versus US and pathologic correlation
-
Jamis-Dow C.A., Choyke P.L., Jennings S.B., Linehan W.M., Thakore K.N., and Walther M.M. Small (≤3-cm) renal masses: detection with CT versus US and pathologic correlation. Radiology 198 (1996) 785-788
-
(1996)
Radiology
, vol.198
, pp. 785-788
-
-
Jamis-Dow, C.A.1
Choyke, P.L.2
Jennings, S.B.3
Linehan, W.M.4
Thakore, K.N.5
Walther, M.M.6
-
86
-
-
44349138945
-
Cancer risks from diagnostic radiology
-
Hall E.J., and Brenner D.J. Cancer risks from diagnostic radiology. Br J Radiol 81 (2008) 362-378
-
(2008)
Br J Radiol
, vol.81
, pp. 362-378
-
-
Hall, E.J.1
Brenner, D.J.2
-
87
-
-
64949151537
-
Recurrent CT, cumulative radiation exposure, and associated radiation-induced cancer risks from CT of adults
-
Sodickson A., Baeyens P.F., Andriole K.P., et al. Recurrent CT, cumulative radiation exposure, and associated radiation-induced cancer risks from CT of adults. Radiology 251 (2009) 175-184
-
(2009)
Radiology
, vol.251
, pp. 175-184
-
-
Sodickson, A.1
Baeyens, P.F.2
Andriole, K.P.3
-
88
-
-
53249111692
-
Renal cell carcinoma: diagnosis, staging, and surveillance
-
Ng C.S., Wood C.G., Silverman P.M., Tannir N.M., Tamboli P., and Sandler C.M. Renal cell carcinoma: diagnosis, staging, and surveillance. Am J Roentgenol 191 (2008) 1220-1232
-
(2008)
Am J Roentgenol
, vol.191
, pp. 1220-1232
-
-
Ng, C.S.1
Wood, C.G.2
Silverman, P.M.3
Tannir, N.M.4
Tamboli, P.5
Sandler, C.M.6
-
89
-
-
0032863385
-
Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery
-
Walther M.M., Choyke P.L., Glenn G., et al. Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery. J Urol 161 (1999) 1475-1479
-
(1999)
J Urol
, vol.161
, pp. 1475-1479
-
-
Walther, M.M.1
Choyke, P.L.2
Glenn, G.3
-
90
-
-
0035131313
-
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: a 10-year experience
-
Herring J.C., Enquist E.G., Chernoff A., Linehan W.M., Choyke P.L., and Walther M.M. Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: a 10-year experience. J Urol 165 (2001) 777-781
-
(2001)
J Urol
, vol.165
, pp. 777-781
-
-
Herring, J.C.1
Enquist, E.G.2
Chernoff, A.3
Linehan, W.M.4
Choyke, P.L.5
Walther, M.M.6
-
91
-
-
0037709883
-
Von Hippel-Lindau disease
-
Lonser R.R., Glenn G.M., Walther M., et al. Von Hippel-Lindau disease. Lancet 361 (2003) 2059-2067
-
(2003)
Lancet
, vol.361
, pp. 2059-2067
-
-
Lonser, R.R.1
Glenn, G.M.2
Walther, M.3
-
92
-
-
54549093703
-
Minimally invasive nephron-sparing surgery
-
Berger A., Crouzet S., Canes D., Haber G.P., and Gill I.S. Minimally invasive nephron-sparing surgery. Curr Opin Urol 18 (2008) 462-466
-
(2008)
Curr Opin Urol
, vol.18
, pp. 462-466
-
-
Berger, A.1
Crouzet, S.2
Canes, D.3
Haber, G.P.4
Gill, I.S.5
|