-
1
-
-
0031978181
-
Base-calling of automated sequencer traces using phred. II. Error probabilities
-
Ewing B, Green P (1998) Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 8:186-94
-
(1998)
Genome Res
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
2
-
-
0031955518
-
Base-calling of automated sequencer traces using phred. I. Accuracy assessment
-
Ewing B, Hillier L, Wendl MC, Green P (1998) Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 8:175-85
-
(1998)
Genome Res
, vol.8
, pp. 175-185
-
-
Ewing, B.1
Hillier, L.2
Wendl, M.C.3
Green, P.4
-
3
-
-
0031955116
-
Consed: A graphical tool for sequence finishing
-
Gordon D, Abajian C, Green P (1998) Consed: a graphical tool for sequence finishing. Genome Res 8:195-202
-
(1998)
Genome Res
, vol.8
, pp. 195-202
-
-
Gordon, D.1
Abajian, C.2
Green, P.3
-
4
-
-
21544474394
-
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults
-
Graham RB, Nolasco M, Peterlin B, Garcia CK (2005) Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 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
Garcia, C.K.4
-
5
-
-
0029843950
-
Methylation-specific PCR: A novel PCR assay for methylation status of CpG islands
-
Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB (1996) Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 93:9821-6
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 9821-9826
-
-
Herman, J.G.1
Graff, J.R.2
Myohanen, S.3
Nelkin, B.D.4
Baylin, S.B.5
-
6
-
-
0041633905
-
Inactivation of BHD in sporadic renal tumors
-
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K et al. (2003) Inactivation of BHD in sporadic renal tumors. Cancer Res 63:4583-7
-
(2003)
Cancer Res
, vol.63
, pp. 4583-4587
-
-
Khoo, S.K.1
Kahnoski, K.2
Sugimura, J.3
Petillo, D.4
Chen, J.5
Shockley, K.6
-
7
-
-
20144387747
-
Birt-Hogg-Dube syndrome: Germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient
-
Lamberti C, Schweiger N, Hartschuh W, Schulz T, Becker-Wegerich P, Kuster W et al. (2005) Birt-Hogg-Dube syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient. Acta Derm Venereol 85:172-3
-
(2005)
Acta Derm Venereol
, vol.85
, pp. 172-173
-
-
Lamberti, C.1
Schweiger, N.2
Hartschuh, W.3
Schulz, T.4
Becker-Wegerich, P.5
Kuster, W.6
-
8
-
-
0345530997
-
A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German shepherd dog
-
Lingaas F, Comstock KE, Kirkness EF, Sorensen A, Aarskaug T, Hitte C et al. (2003) A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German shepherd dog. Hum Mol Genet 12:3043-53
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3043-3053
-
-
Lingaas, F.1
Comstock, K.E.2
Kirkness, E.F.3
Sorensen, A.4
Aarskaug, T.5
Hitte, C.6
-
9
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
10
-
-
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 ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML et al. (2002) 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 2:157-64
-
(2002)
Cancer Cell
, vol.2
, pp. 157-164
-
-
Nickerson, M.L.1
Warren, M.B.2
Toro, J.R.3
Matrosova, V.4
Glenn, G.5
Turner, M.L.6
-
11
-
-
10744230490
-
A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
-
Okimoto K, Sakurai J, Kobayashi T, Mitani H, Hirayama Y, Nickerson ML et al. (2004) A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci USA 101:2023-7
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 2023-2027
-
-
Okimoto, K.1
Sakurai, J.2
Kobayashi, T.3
Mitani, H.4
Hirayama, Y.5
Nickerson, M.L.6
-
12
-
-
13844289132
-
A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax
-
Painter JN, Tapanainen H, Somer M, Tukiainen P, Aittomaki K (2005) A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet 76:522-7
-
(2005)
Am J Hum Genet
, vol.76
, pp. 522-527
-
-
Painter, J.N.1
Tapanainen, H.2
Somer, M.3
Tukiainen, P.4
Aittomaki, K.5
-
13
-
-
20244378963
-
Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome
-
Pavlovich CP, Grubb RL III, Hurley K, Glenn GM, Toro J, Schmidt LS et al. (2005) Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome. J Urol 173:1482-6
-
(2005)
J Urol
, vol.173
, pp. 1482-1486
-
-
Pavlovich, C.P.1
Grubb III, R.L.2
Hurley, K.3
Glenn, G.M.4
Toro, J.5
Schmidt, L.S.6
-
14
-
-
0036892633
-
Renal tumors in the Birt-Hogg-Dube syndrome
-
Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM et al. (2002) Renal tumors in the Birt-Hogg-Dube syndrome. Am J Surg Pathol 26:1542-52
-
(2002)
Am J Surg Pathol
, vol.26
, pp. 1542-1552
-
-
Pavlovich, C.P.1
Walther, M.M.2
Eyler, R.A.3
Hewitt, S.M.4
Zbar, B.5
Linehan, W.M.6
-
15
-
-
0031855915
-
Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: Syndrome of Birt-Hogg-Dube
-
Scalvenzi M, Argenziano G, Sammarco E, Delfino M (1998) Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dube. J Eur Acad Dermatol Venereol 11:45-7
-
(1998)
J Eur Acad Dermatol Venereol
, vol.11
, pp. 45-47
-
-
Scalvenzi, M.1
Argenziano, G.2
Sammarco, E.3
Delfino, M.4
-
16
-
-
21044457377
-
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome
-
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ et al. (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 76:1023-33
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1023-1033
-
-
Schmidt, L.S.1
Nickerson, M.L.2
Warren, M.B.3
Glenn, G.M.4
Toro, J.R.5
Merino, M.J.6
-
17
-
-
21444432561
-
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors
-
Vocke CD, Yang Y, Pavlovich CP, Schmidt LS, Nickerson ML, Torres-Cabala CA et al. (2005) High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 97:931-5
-
(2005)
J Natl Cancer Inst
, vol.97
, pp. 931-935
-
-
Vocke, C.D.1
Yang, Y.2
Pavlovich, C.P.3
Schmidt, L.S.4
Nickerson, M.L.5
Torres-Cabala, C.A.6
-
18
-
-
0036122090
-
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome
-
Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L et al. (2002) Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 11:393-400
-
(2002)
Cancer Epidemiol Biomarkers Prev
, vol.11
, pp. 393-400
-
-
Zbar, B.1
Alvord, W.G.2
Glenn, G.3
Turner, M.4
Pavlovich, C.P.5
Schmidt, L.6
-
19
-
-
2342635738
-
Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome
-
Zeniou M, Gattoni R, Hanauer A, Stevenin J (2004) Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. Nucleic Acids Res 32:1214-23
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 1214-1223
-
-
Zeniou, M.1
Gattoni, R.2
Hanauer, A.3
Stevenin, J.4
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