-
1
-
-
42649138270
-
Lessons from the skin-cutaneous features of familial cancer
-
Winship I, Dudding T. Lessons from the skin-cutaneous features of familial cancer. Lancet Oncol 2008 9 : 462 472.
-
(2008)
Lancet Oncol
, vol.9
, pp. 462-472
-
-
Winship, I.1
Dudding, T.2
-
2
-
-
27744532369
-
Genetics of skin appendage neoplasms and related syndromes
-
Lee D, Grossman M, Schneiderman P, Celebi J. Genetics of skin appendage neoplasms and related syndromes. J Med Genet 2005 42 : 811 819.
-
(2005)
J Med Genet
, vol.42
, pp. 811-819
-
-
Lee, D.1
Grossman, M.2
Schneiderman, P.3
Celebi, J.4
-
4
-
-
61549096207
-
Quand le diagnostic d'une tumeur annexielle peut sauver la vie du patient
-
Cribier B. Quand le diagnostic d'une tumeur annexielle peut sauver la vie du patient. Ann Dermatol Venereol 2009 136 : 125 132.
-
(2009)
Ann Dermatol Venereol
, vol.136
, pp. 125-132
-
-
Cribier, B.1
-
6
-
-
0036751607
-
Cowden disease or multiple hamartomata syndrome - Cutaneous clues to internal malignancy
-
Fistarol S, Anliker M, Itin P. Cowden disease or multiple hamartomata syndrome - cutaneous clues to internal malignancy. Eur J Dermatol 2002 12 : 412 421.
-
(2002)
Eur J Dermatol
, vol.12
, pp. 412-421
-
-
Fistarol, S.1
Anliker, M.2
Itin, P.3
-
7
-
-
0001182707
-
Cowden's disease. A possible new symptom complex with multiple system involvement
-
Lloyd KM, Denis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 1963 58 : 136 142.
-
(1963)
Ann Intern Med
, vol.58
, pp. 136-142
-
-
Lloyd, K.M.1
Denis, M.2
-
8
-
-
0021148105
-
The cutaneous pathology of facial lesions in Cowden's disease
-
Starinck T, Hausman R. The cutaneous pathology of facial lesions in Cowden's disease. J Cutan Pathol 1984 11 : 331 337. (Pubitemid 14020714)
-
(1984)
Journal of Cutaneous Pathology
, vol.11
, Issue.5
, pp. 331-337
-
-
Starink, T.M.1
Hausman, R.2
-
9
-
-
0020584790
-
Cowden's disease (multiple hamartomata syndrome). A case report and review of the English literature
-
Salem O, Steck W. Cowden's disease (multiple hamartomata syndrome). A case report and review of the English literature. J Am Acad Dermatol 1983 8 : 686 696.
-
(1983)
J Am Acad Dermatol
, vol.8
, pp. 686-696
-
-
Salem, O.1
Steck, W.2
-
10
-
-
0022649866
-
The Cowden syndrome: A clinical and genetic study in 21 patients
-
Starinck T, van der Veen J, Arwert F et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clinical Genet 1986 29 : 222 233.
-
(1986)
Clinical Genet
, vol.29
, pp. 222-233
-
-
Starinck, T.1
Van Der Veen, J.2
Arwert, F.3
-
11
-
-
0021148106
-
The cutaneous pathology of extrafacial lesions in Cowden's disease
-
Starinck T, Hausman R. The cutaneous pathology of extrafacial lesions in Cowden's disease. J Cutan Pathol 1984 11 : 338 344. (Pubitemid 14020715)
-
(1984)
Journal of Cutaneous Pathology
, vol.11
, Issue.5
, pp. 338-344
-
-
Starink, T.M.1
Hausman, R.2
-
12
-
-
4444246005
-
Multiple inverted follicular keratoses as a presenting sign of Cowden's syndrome: Case report with human papillomavirus studies
-
Ruhoy S, Thomas D, Nuovo G. Multiple inverted follicular keratoses as a presenting sign of Cowden's syndrome: case report with human papillomavirus studies. J Am Acad Dermatol 2004 51 : 411 415.
-
(2004)
J Am Acad Dermatol
, vol.51
, pp. 411-415
-
-
Ruhoy, S.1
Thomas, D.2
Nuovo, G.3
-
13
-
-
58849157647
-
Cowden's syndrome: A critical review of the clinical literature
-
Pilarski R. Cowden's syndrome: a critical review of the clinical literature. J Genet Couns 2009 18 : 13 27.
-
(2009)
J Genet Couns
, vol.18
, pp. 13-27
-
-
Pilarski, R.1
-
14
-
-
33947405634
-
Linear Cowden nevus: A new distinct epidermal nevus
-
DOI 10.1684/ejd.2007.0125
-
Happle R. Linear Cowden nevus: a new distinct epidermal nevus. Eur J Dermatol 2007 17 : 133 136. (Pubitemid 46456762)
-
(2007)
European Journal of Dermatology
, vol.17
, Issue.2
, pp. 133-136
-
-
Happle, R.1
-
15
-
-
0033738748
-
Will the real Cowden syndrome please stand up: Revised diagnostic criteria
-
Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000 37 : 828 830.
-
(2000)
J Med Genet
, vol.37
, pp. 828-830
-
-
Eng, C.1
-
16
-
-
2342458960
-
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumor syndrome
-
Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumor syndrome. J Med Genet 2004 41 : 323 326.
-
(2004)
J Med Genet
, vol.41
, pp. 323-326
-
-
Pilarski, R.1
Eng, C.2
-
17
-
-
0036206130
-
Protean PTEN: Form and function
-
Waite K, Eng C. Protean PTEN: form and function. Am J Hum Genet 2002 70 : 829 844.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 829-844
-
-
Waite, K.1
Eng, C.2
-
18
-
-
0042316755
-
PTEN: One gene, many syndromes
-
Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003 22 : 183 198.
-
(2003)
Hum Mutat
, vol.22
, pp. 183-198
-
-
Eng, C.1
-
19
-
-
52049126174
-
Chemoprevention and treatment of experimental Cowden's disease by mTOR inhbition with rapamycin
-
Squarize C, Castilho R, Gutkind J. Chemoprevention and treatment of experimental Cowden's disease by mTOR inhbition with rapamycin. Cancer Res 2008 68 : 7066 7072.
-
(2008)
Cancer Res
, vol.68
, pp. 7066-7072
-
-
Squarize, C.1
Castilho, R.2
Gutkind, J.3
-
20
-
-
33646065648
-
Cowden syndrome: Report of a case with immunohistochemical analysis and review of the literature
-
Scheper M, Nikitakis N, Sarlani E, Sauk J, Meiller T. Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature. Oral Med Oral Pathol Oral Radol Endod 2006 101 : 625 631.
-
(2006)
Oral Med Oral Pathol Oral Radol Endod
, vol.101
, pp. 625-631
-
-
Scheper, M.1
Nikitakis, N.2
Sarlani, E.3
Sauk, J.4
Meiller, T.5
-
21
-
-
59449101155
-
PI3K/mTORC1 activation in hamartoma syndromes: Therapeutic prospects
-
Krymskaya V, Goncharova E. PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects. Cell Cycle 2009 8 : 403 413.
-
(2009)
Cell Cycle
, vol.8
, pp. 403-413
-
-
Krymskaya, V.1
Goncharova, E.2
-
23
-
-
48249113935
-
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes
-
Ni Y, Zbuk K, Sadler T et al. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet 2008 83 : 261 268.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 261-268
-
-
Ni, Y.1
Zbuk, K.2
Sadler, T.3
-
25
-
-
13944279163
-
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: Role of clinical features, microsatellite instability, and immunohistochemistry
-
Ponti G, Losi L, Di Gregorio C et al. Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. Cancer 2005 103 : 1018 1025.
-
(2005)
Cancer
, vol.103
, pp. 1018-1025
-
-
Ponti, G.1
Losi, L.2
Di Gregorio, C.3
-
26
-
-
0032721654
-
Muir-Torre syndrome: Case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature
-
Akhtar S, Oza K, Khan S, Wright J. Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol 1999 41 : 681 686.
-
(1999)
J Am Acad Dermatol
, vol.41
, pp. 681-686
-
-
Akhtar, S.1
Oza, K.2
Khan, S.3
Wright, J.4
-
27
-
-
0025755503
-
Association of sebaceous gland and internal malignancy: The Muir-Torre syndrome
-
Cohen P, Kohn S, Kurzrock R. Association of sebaceous gland and internal malignancy: the Muir-Torre syndrome. Am J Med 1991 90 : 606 613.
-
(1991)
Am J Med
, vol.90
, pp. 606-613
-
-
Cohen, P.1
Kohn, S.2
Kurzrock, R.3
-
28
-
-
1642633537
-
Muir-Torre phenotype has a frequency of DNA mismatch-repair gene mutations similar to that in hereditary non-polyposis colorectal cancer families defined by the Amsterdam criteria
-
Kruse R, Rutten A, Lamberti C et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair gene mutations similar to that in hereditary non-polyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 1998 63 : 63 70.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 63-70
-
-
Kruse, R.1
Rutten, A.2
Lamberti, C.3
-
29
-
-
0036187460
-
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: Establishment of immunohistochemical analysis as a screening test
-
Mathiak M, Rütten A, Mangold E et al. Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol 2002 26 : 338 343.
-
(2002)
Am J Surg Pathol
, vol.26
, pp. 338-343
-
-
Mathiak, M.1
Rütten, A.2
Mangold, E.3
-
30
-
-
65949096866
-
Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: A diagnostic algorithm
-
Abbas O, Mahalingam M. Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm. J Cutan Pathol 2009 36 : 613 619.
-
(2009)
J Cutan Pathol
, vol.36
, pp. 613-619
-
-
Abbas, O.1
Mahalingam, M.2
-
31
-
-
39649093644
-
The frequency of Muir-Torre syndrome among Lynch syndrome families
-
South C, Hampel H, Comeras I, Westman J, Frankel W, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst 2008 100 : 277 281.
-
(2008)
J Natl Cancer Inst
, vol.100
, pp. 277-281
-
-
South, C.1
Hampel, H.2
Comeras, I.3
Westman, J.4
Frankel, W.5
De La Chapelle, A.6
-
32
-
-
0029013597
-
The Muir-Torre syndrome. A 25-year retrospect
-
Schwartz R, Torre D. The Muir-Torre syndrome. A 25-year retrospect. J Am Acad Dermatol 1995 33 : 90 104.
-
(1995)
J Am Acad Dermatol
, vol.33
, pp. 90-104
-
-
Schwartz, R.1
Torre, D.2
-
33
-
-
57449105900
-
Sebaceous carcinoma: The great masquerader: Emerging concepts in diagnosis and treatment
-
Buitrago W, Joseph A. Sebaceous carcinoma: the great masquerader: emerging concepts in diagnosis and treatment. Dermatol Ther 2008 21 : 459 466.
-
(2008)
Dermatol Ther
, vol.21
, pp. 459-466
-
-
Buitrago, W.1
Joseph, A.2
-
34
-
-
0021996523
-
Oral isotretinoin therapy for familial Muir-Torre syndrome
-
Spielvogel R, de Villez R, Roberts L. Oral isotretinoin therapy for familial Muir-Torre syndrome. J Am Acad Dermatol 1985 12 : 475 478.
-
(1985)
J Am Acad Dermatol
, vol.12
, pp. 475-478
-
-
Spielvogel, R.1
De Villez, R.2
Roberts, L.3
-
35
-
-
0033933459
-
Muir-Torre syndrome - Treatment with isotretinoin and interferon alpha-2a can prevent tumor development
-
Graefe T, Wollina U, Schulz H, Burgdorf W. Muir-Torre syndrome - treatment with isotretinoin and interferon alpha-2a can prevent tumor development. Dermatology 2000 200 : 331 333.
-
(2000)
Dermatology
, vol.200
, pp. 331-333
-
-
Graefe, T.1
Wollina, U.2
Schulz, H.3
Burgdorf, W.4
-
36
-
-
33846260721
-
Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome
-
Levi Z, Hazazi R, Kedar-Barnes I et al. Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome. Am J Transplant 2007 7 : 476 479.
-
(2007)
Am J Transplant
, vol.7
, pp. 476-479
-
-
Levi, Z.1
Hazazi, R.2
Kedar-Barnes, I.3
-
37
-
-
0028988154
-
Cutaneous cysts of Gardner's syndrome are similar to follicular stem cells
-
Narisawa Y, Kohda H. Cutaneous cysts of Gardner's syndrome are similar to follicular stem cells. J Cutan Pathol 1995 22 : 115 121.
-
(1995)
J Cutan Pathol
, vol.22
, pp. 115-121
-
-
Narisawa, Y.1
Kohda, H.2
-
38
-
-
78651052934
-
Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis
-
Gardner E, Richards R. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 1953 5 : 139 147.
-
(1953)
Am J Hum Genet
, vol.5
, pp. 139-147
-
-
Gardner, E.1
Richards, R.2
-
40
-
-
47949122502
-
Hereditary colorectal cancer syndromes: Familial adenomatous polyposis and Lynch syndrome
-
Al-Sukhni W, Aronson M, Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and Lynch syndrome. Surg Clin North Am 2008 88 : 819 844.
-
(2008)
Surg Clin North Am
, vol.88
, pp. 819-844
-
-
Al-Sukhni, W.1
Aronson, M.2
Gallinger, S.3
-
41
-
-
31944448351
-
Familal adenomatous polyposis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts
-
Bisgaard M, Bulow S. Familal adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet 2006 140 : 200 204.
-
(2006)
Am J Med Genet
, vol.140
, pp. 200-204
-
-
Bisgaard, M.1
Bulow, S.2
-
42
-
-
2142774177
-
Manifestaçôes extracolônicas da polipose adenomatosa familiar
-
Campos F, Habr-Gama A, Kiss D, Atui F, Katayama F, Gama-Rodrigues J. Manifestaçôes extracolônicas da polipose adenomatosa familiar. Arq Gastroenterol 2003 40 : 92 98.
-
(2003)
Arq Gastroenterol
, vol.40
, pp. 92-98
-
-
Campos, F.1
Habr-Gama, A.2
Kiss, D.3
Atui, F.4
Katayama, F.5
Gama-Rodrigues, J.6
-
43
-
-
50049124155
-
Extra-intestinal manifestations of familial adenomatous polyposis
-
Groen E, Roos A, Muntinghe F et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 2008 15 : 2439 2450.
-
(2008)
Ann Surg Oncol
, vol.15
, pp. 2439-2450
-
-
Groen, E.1
Roos, A.2
Muntinghe, F.3
-
44
-
-
0029561613
-
Multiple familial pilomatricomas: A cutaneous marker for Gardner syndrome?
-
Pujol R, Casanoja J, Edigo R, Moragas J. Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome? Ped Dermatol 1995 12 : 331 335.
-
(1995)
Ped Dermatol
, vol.12
, pp. 331-335
-
-
Pujol, R.1
Casanoja, J.2
Edigo, R.3
Moragas, J.4
-
45
-
-
34247596632
-
Gardner fibroma: A clinicopathological and immunohistochemical analysis of 45 patients with 57 fibromas
-
Coffin C, Hornick J, Zhou H, Fletcher D. Gardner fibroma: a clinicopathological and immunohistochemical analysis of 45 patients with 57 fibromas. Am J Surg Pathol 2007 31 : 410 416.
-
(2007)
Am J Surg Pathol
, vol.31
, pp. 410-416
-
-
Coffin, C.1
Hornick, J.2
Zhou, H.3
Fletcher, D.4
-
46
-
-
33749011410
-
The genetics of FAP and FAP-like syndromes
-
Lipton L, Tomlinson I. The genetics of FAP and FAP-like syndromes. Fam Cancer 2006 5 : 221 226.
-
(2006)
Fam Cancer
, vol.5
, pp. 221-226
-
-
Lipton, L.1
Tomlinson, I.2
-
47
-
-
0034098691
-
Biology of the Adenomatous Polyposis tumor suppressor gene
-
Goss K, Groden J. Biology of the Adenomatous Polyposis tumor suppressor gene. J Clin Oncol 2000 18 : 1967 1979.
-
(2000)
J Clin Oncol
, vol.18
, pp. 1967-1979
-
-
Goss, K.1
Groden, J.2
-
48
-
-
62149152442
-
APC, MYH, and the correlation genotype-phenotype in colorectal polyposis
-
Lefevre J, Parc Y, Svrcek M et al. APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. Ann Surg Oncol 2009 16 : 871 877.
-
(2009)
Ann Surg Oncol
, vol.16
, pp. 871-877
-
-
Lefevre, J.1
Parc, Y.2
Svrcek, M.3
-
49
-
-
33947586770
-
Genetic alterations in sporadic and hereditary colorectal cancer: Implementations for screening and follow-up
-
Souglakos J. Genetic alterations in sporadic and hereditary colorectal cancer: implementations for screening and follow-up. Dig Dis 2007 25 : 9 19.
-
(2007)
Dig Dis
, vol.25
, pp. 9-19
-
-
Souglakos, J.1
-
50
-
-
15944375824
-
A kindred with MYH-associated polyposis and pilomatricomas
-
Baglioni S, Melean G, Gensini F et al. A kindred with MYH-associated polyposis and pilomatricomas. Am J Med Genet A 2005 134 : 212 214.
-
(2005)
Am J Med Genet A
, vol.134
, pp. 212-214
-
-
Baglioni, S.1
Melean, G.2
Gensini, F.3
-
51
-
-
45749156021
-
Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin
-
Ajith Kumar V, Gold J, Mallon E, Thomas S, Hodgson S. Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. Fam Cancer 2008 7 : 187 189.
-
(2008)
Fam Cancer
, vol.7
, pp. 187-189
-
-
Ajith, K.V.1
Gold, J.2
Mallon, E.3
Thomas, S.4
Hodgson, S.5
-
52
-
-
27544471555
-
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations
-
Ponti G, Ponz de Leon M, Maffei S et al. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 2005 68 : 442 447.
-
(2005)
Clin Genet
, vol.68
, pp. 442-447
-
-
Ponti, G.1
Ponz De Leon, M.2
Maffei, S.3
-
53
-
-
33846074011
-
Correlations between mutation site in APC and phenotype of familial adenomatous polyposis: A review of the literature
-
Nieuwenhuis M, Vasen H. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis: a review of the literature. Crit Rev Hematol Oncol 2007 61 : 153 161.
-
(2007)
Crit Rev Hematol Oncol
, vol.61
, pp. 153-161
-
-
Nieuwenhuis, M.1
Vasen, H.2
-
54
-
-
34250689398
-
Oral and maxillofacial manifestations of familial adenomatous polyposis
-
Wijn M, Keller J, Giardiello F, Brand H. Oral and maxillofacial manifestations of familial adenomatous polyposis. Oral Dis 2007 13 : 360 365.
-
(2007)
Oral Dis
, vol.13
, pp. 360-365
-
-
Wijn, M.1
Keller, J.2
Giardiello, F.3
Brand, H.4
-
55
-
-
46449094710
-
Chemoprevention with special reference to inherited colorectal cancer
-
Lynch PM. Chemoprevention with special reference to inherited colorectal cancer. Fam Cancer 2008 7 : 59 64.
-
(2008)
Fam Cancer
, vol.7
, pp. 59-64
-
-
Lynch, P.M.1
-
57
-
-
0033971801
-
Care of patients and their families with familial adenomatous polyposis
-
King J, Dozois R, Lindor N, Ahlquist D. Care of patients and their families with familial adenomatous polyposis. Mayo Clin Proc 2000 75 : 57 67.
-
(2000)
Mayo Clin Proc
, vol.75
, pp. 57-67
-
-
King, J.1
Dozois, R.2
Lindor, N.3
Ahlquist, D.4
-
58
-
-
33749006194
-
Familial adenomatous polyposis: The practical applications of clinical and molecular screening
-
Rozen P, Macrae F. Familial adenomatous polyposis: the practical applications of clinical and molecular screening. Fam Cancer 2006 5 : 227 235.
-
(2006)
Fam Cancer
, vol.5
, pp. 227-235
-
-
Rozen, P.1
MacRae, F.2
-
59
-
-
33846009106
-
Gardner's syndrome in a 40-year-old woman: Successful treatment of locally aggressive desmoid tumors with cytotoxic chemotherapy
-
Bhama P, Chugh R, Baker L, Doherty G. Gardner's syndrome in a 40-year-old woman: successful treatment of locally aggressive desmoid tumors with cytotoxic chemotherapy. World J Surg Oncol 2006 4 : 96.
-
(2006)
World J Surg Oncol
, vol.4
, pp. 96
-
-
Bhama, P.1
Chugh, R.2
Baker, L.3
Doherty, G.4
-
60
-
-
0036122090
-
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome
-
Zbar B, Alvord W, 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.2
Glenn, G.3
-
61
-
-
33845413247
-
Birt-Hogg-Dubé syndrome. Clinicopathologic findings and genetic alterations
-
Adley B, Smith N, Nayar R, Yang X. 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.1
Smith, N.2
Nayar, R.3
Yang, X.4
-
62
-
-
37049023196
-
Birt-Hogg-Dube syndrome: Clinical and genetic studies of 20 families
-
Leter E, Koopmans A, Gille JJ et al. Birt-Hogg-Dube syndrome: clinical and genetic studies of 20 families. J Invest Dermatol 2008 128 : 45 49.
-
(2008)
J Invest Dermatol
, vol.128
, pp. 45-49
-
-
Leter, E.1
Koopmans, A.2
Gille, J.J.3
-
63
-
-
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 J, Wei M, Glenn G 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.1
Wei, M.2
Glenn, G.3
-
64
-
-
0141533240
-
Birt-Hogg-Dube syndrome: A review of the literature and the differential diagnosis of firm facial papules
-
Vincent A, Farley M, Chan E, James W. 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
James, W.4
-
65
-
-
0017276535
-
Multiple dermal perifollicular fibromas with polyps of the colon - Report of a peculiar clinical syndrome
-
Hornstein O, Knickenberg M. Multiple dermal perifollicular fibromas with polyps of the colon - report of a peculiar clinical syndrome. Acta Hepatogastroenterol 1976 23 : 53 58.
-
(1976)
Acta Hepatogastroenterol
, vol.23
, pp. 53-58
-
-
Hornstein, O.1
Knickenberg, M.2
-
66
-
-
0032942317
-
Birt-Hogg Dubé/Hornstein-Knickenberg-syndrome are the same. Diffferent sectioning technique as the cause of different histology
-
Schultz T, Hartschuh W. Birt-Hogg Dubé/Hornstein-Knickenberg- syndrome are the same. Diffferent sectioning technique as the cause of different histology. J Cutan Pathol 1999 26 : 55 61.
-
(1999)
J Cutan Pathol
, vol.26
, pp. 55-61
-
-
Schultz, T.1
Hartschuh, W.2
-
67
-
-
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-Dube syndrome
-
Nickerson M, Warren M, Toro J 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-Dube syndrome. Cancer Cell 2002 2 : 157 164.
-
(2002)
Cancer Cell
, vol.2
, pp. 157-164
-
-
Nickerson, M.1
Warren, M.2
Toro, J.3
-
68
-
-
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, Guadagni F. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol 2008 18 : 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
-
69
-
-
3342906998
-
Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues
-
Warren M, Torres-Cabala C, Turner ML et al. Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod Pathol 2004 17 : 998 1011.
-
(2004)
Mod Pathol
, vol.17
, pp. 998-1011
-
-
Warren, M.1
Torres-Cabala, C.2
Turner, M.L.3
-
70
-
-
64049090204
-
The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis
-
Hartman T, Nicolas E, Klein-Szanto A et al. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene 2009 28 : 1594 1604.
-
(2009)
Oncogene
, vol.28
, pp. 1594-1604
-
-
Hartman, T.1
Nicolas, E.2
Klein-Szanto, A.3
-
71
-
-
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 2008 3 : e3581.
-
(2008)
PLoS ONE
, vol.3
, pp. 3581
-
-
Chen, J.1
Futami, K.2
Petillo, D.3
-
72
-
-
38149094921
-
The UOK 257 cell line: A novel model for studies of the human Birt-Hogg-Dubé gene pathway
-
Yang Y, Padilla-Nash H, Vira M et al. The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dubé gene pathway. Cancer Genet Cytogenet 2008 180 : 100 109.
-
(2008)
Cancer Genet Cytogenet
, vol.180
, pp. 100-109
-
-
Yang, Y.1
Padilla-Nash, H.2
Vira, M.3
-
73
-
-
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
-
74
-
-
21844473505
-
Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg Dubé syndrome
-
Schaffer J, Gohara M, McNiff J, Aasi S, Dvoretzky I. Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg Dubé syndrome. J Am Acad Dermatol 2005 53 : S108 S111.
-
(2005)
J Am Acad Dermatol
, vol.53
-
-
Schaffer, J.1
Gohara, M.2
McNiff, J.3
Aasi, S.4
Dvoretzky, I.5
-
76
-
-
34848833255
-
Hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome
-
Farrant PB, Emerson R. Hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. Dermatol Surg 2007 33 : 1287 1288.
-
(2007)
Dermatol Surg
, vol.33
, pp. 1287-1288
-
-
Farrant, P.B.1
Emerson, R.2
-
77
-
-
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 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.3
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