-
1
-
-
39149143037
-
Pheochromocytoma: an update on genetics and management
-
Karagiannis, A., Mikhailidis, D.P., Athyros, V.G. and Harsoulis, F. (2007) Pheochromocytoma: an update on genetics and management. Endocr. Relat. Cancer, 14, 935-956.
-
(2007)
Endocr. Relat. Cancer
, vol.14
, pp. 935-956
-
-
Karagiannis, A.1
Mikhailidis, D.P.2
Athyros, V.G.3
Harsoulis, F.4
-
2
-
-
84855940667
-
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
-
Welander, J., Soderkvist, P. and Gimm, O. (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr. Relat. Cancer, 18, R253-R276.
-
(2011)
Endocr. Relat. Cancer
, vol.18
-
-
Welander, J.1
Soderkvist, P.2
Gimm, O.3
-
3
-
-
84858862411
-
Malignant pheochromocytomas and paragangliomas: a diagnostic challenge
-
Gimm, O., Demicco, C., Perren, A., Giammarile, F., Walz, M.K. and Brunaud, L. (2012) Malignant pheochromocytomas and paragangliomas: a diagnostic challenge. Langenbecks Arch. Surg., 397, 155-177.
-
(2012)
Langenbecks Arch. Surg.
, vol.397
, pp. 155-177
-
-
Gimm, O.1
Demicco, C.2
Perren, A.3
Giammarile, F.4
Walz, M.K.5
Brunaud, L.6
-
4
-
-
0025312728
-
A genetic model for colorectal tumorigenesis
-
Fearon, E.R. and Vogelstein, B. (1990) A genetic model for colorectal tumorigenesis. Cell, 61, 759-767.
-
(1990)
Cell
, vol.61
, pp. 759-767
-
-
Fearon, E.R.1
Vogelstein, B.2
-
6
-
-
70149107227
-
Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas
-
Waldmann, J., Langer, P., Habbe, N., Fendrich, V., Ramaswamy, A., Rothmund, M., Bartsch, D.K. and Slater, E.P. (2009) Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas. Endocrine, 35, 347-355.
-
(2009)
Endocrine
, vol.35
, pp. 347-355
-
-
Waldmann, J.1
Langer, P.2
Habbe, N.3
Fendrich, V.4
Ramaswamy, A.5
Rothmund, M.6
Bartsch, D.K.7
Slater, E.P.8
-
7
-
-
34547819216
-
Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma
-
Korpershoek, E., Petri, B.J., van Nederveen, F.H., Dinjens, W.N., Verhofstad, A.A., de Herder, W.W., Schmid, S., Perren, A., Komminoth, P. and de Krijger, R.R. (2007) Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. Endocr. Relat. Cancer, 14, 453-462.
-
(2007)
Endocr. Relat. Cancer
, vol.14
, pp. 453-462
-
-
Korpershoek, E.1
Petri, B.J.2
van Nederveen, F.H.3
Dinjens, W.N.4
Verhofstad, A.A.5
de Herder, W.W.6
Schmid, S.7
Perren, A.8
Komminoth, P.9
de Krijger, R.R.10
-
8
-
-
80053139912
-
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
-
Burnichon, N., Vescovo, L., Amar, L., Libe, R., de Reynies, A., Venisse, A., Jouanno, E., Laurendeau, I., Parfait, B., Bertherat, J. et al. (2011) Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum. Mol. Genet., 20, 3974-3985.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3974-3985
-
-
Burnichon, N.1
Vescovo, L.2
Amar, L.3
Libe, R.4
de Reynies, A.5
Venisse, A.6
Jouanno, E.7
Laurendeau, I.8
Parfait, B.9
Bertherat, J.10
-
9
-
-
77950342008
-
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
-
Bayley, J.P., Kunst, H.P.M., Cascon, A., Sampietro, M.L., Gaal, J., Korpershoek, E., Hinojar-Gutierrez, A., Timmers, H.J.L.M., Hoefsloot, L.H., Hermsen, M.A. et al. (2010) SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol., 11, 366-372.
-
(2010)
Lancet Oncol
, vol.11
, pp. 366-372
-
-
Bayley, J.P.1
Kunst, H.P.M.2
Cascon, A.3
Sampietro, M.L.4
Gaal, J.5
Korpershoek, E.6
Hinojar-Gutierrez, A.7
Timmers, H.J.L.M.8
Hoefsloot, L.H.9
Hermsen, M.A.10
-
10
-
-
0034671551
-
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
-
Gimm, O., Armanios, M., Dziema, H., Neumann, H.P. and Eng, C. (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res., 60, 6822-6825.
-
(2000)
Cancer Res
, vol.60
, pp. 6822-6825
-
-
Gimm, O.1
Armanios, M.2
Dziema, H.3
Neumann, H.P.4
Eng, C.5
-
11
-
-
84861140704
-
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
-
Burnichon, N., Cascon, A., Schiavi, F., Morales, N.P., Comino-Mendez, I., Abermil, N., Inglada-Perez, L., de Cubas, A.A., Amar, L., Barontini, M. et al. (2012) MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin. Cancer Res., 18, 2828-2837.
-
(2012)
Clin. Cancer Res.
, vol.18
, pp. 2828-2837
-
-
Burnichon, N.1
Cascon, A.2
Schiavi, F.3
Morales, N.P.4
Comino-Mendez, I.5
Abermil, N.6
Inglada-Perez, L.7
de Cubas, A.A.8
Amar, L.9
Barontini, M.10
-
12
-
-
84863208321
-
Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma
-
Weber, A., Hoffmann, M.M., Neumann, H.P. and Erlic, Z. (2012) Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma. Horm. Cancer, 3, 187-192.
-
(2012)
Horm. Cancer
, vol.3
, pp. 187-192
-
-
Weber, A.1
Hoffmann, M.M.2
Neumann, H.P.3
Erlic, Z.4
-
13
-
-
19944429270
-
Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome
-
Eisenhofer, G., Huynh, T.T., Pacak, K., Brouwers, F.M., Walther, M.M., Linehan, W.M., Munson, P.J., Mannelli, M., Goldstein, D.S. and Elkahloun, A.G. (2004) Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr. Relat. Cancer, 11, 897-911.
-
(2004)
Endocr. Relat. Cancer
, vol.11
, pp. 897-911
-
-
Eisenhofer, G.1
Huynh, T.T.2
Pacak, K.3
Brouwers, F.M.4
Walther, M.M.5
Linehan, W.M.6
Munson, P.J.7
Mannelli, M.8
Goldstein, D.S.9
Elkahloun, A.G.10
-
14
-
-
77955594623
-
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas
-
Dahia, P.L., Ross, K.N., Wright, M.E., Hayashida, C.Y., Santagata, S., Barontini, M., Kung, A.L., Sanso, G., Powers, J.F., Tischler, A.S. et al. (2005) A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet., 1, 72-80.
-
(2005)
PLoS Genet
, vol.1
, pp. 72-80
-
-
Dahia, P.L.1
Ross, K.N.2
Wright, M.E.3
Hayashida, C.Y.4
Santagata, S.5
Barontini, M.6
Kung, A.L.7
Sanso, G.8
Powers, J.F.9
Tischler, A.S.10
-
15
-
-
78649404935
-
Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas
-
Lopez-Jimenez, E., Gomez-Lopez, G., Leandro-Garcia, L.J., Munoz, I., Schiavi, F., Montero-Conde, C., de Cubas, A.A., Ramires, R., Landa, I., Leskela, S. et al. (2010) Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Mol. Endocrinol., 24, 2382-2391.
-
(2010)
Mol. Endocrinol.
, vol.24
, pp. 2382-2391
-
-
Lopez-Jimenez, E.1
Gomez-Lopez, G.2
Leandro-Garcia, L.J.3
Munoz, I.4
Schiavi, F.5
Montero-Conde, C.6
de Cubas, A.A.7
Ramires, R.8
Landa, I.9
Leskela, S.10
-
16
-
-
53749107898
-
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors
-
Yeh, I.T., Lenci, R.E., Qin, Y., Buddavarapu, K., Ligon, A.H., Leteurtre, E., Do Cao, C., Cardot-Bauters, C., Pigny, P. and Dahia, P.L. (2008) A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Hum. Genet., 124, 279-285.
-
(2008)
Hum. Genet.
, vol.124
, pp. 279-285
-
-
Yeh, I.T.1
Lenci, R.E.2
Qin, Y.3
Buddavarapu, K.4
Ligon, A.H.5
Leteurtre, E.6
Do Cao, C.7
Cardot-Bauters, C.8
Pigny, P.9
Dahia, P.L.10
-
17
-
-
77649175595
-
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
-
Qin, Y., Yao, L., King, E.E., Buddavarapu, K., Lenci, R.E., Chocron, E.S., Lechleiter, J.D., Sass, M., Aronin, N., Schiavi, F. et al. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat. Genet., 42, 229-233.
-
(2010)
Nat. Genet.
, vol.42
, pp. 229-233
-
-
Qin, Y.1
Yao, L.2
King, E.E.3
Buddavarapu, K.4
Lenci, R.E.5
Chocron, E.S.6
Lechleiter, J.D.7
Sass, M.8
Aronin, N.9
Schiavi, F.10
-
18
-
-
79959752614
-
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
-
Comino-Mendez, I., Gracia-Aznarez, F.J., Schiavi, F., Landa, I., Leandro-Garcia, L.J., Leton, R., Honrado, E., Ramos-Medina, R., Caronia, D., Pita, G. et al. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat. Genet., 43, 663-667.
-
(2011)
Nat. Genet.
, vol.43
, pp. 663-667
-
-
Comino-Mendez, I.1
Gracia-Aznarez, F.J.2
Schiavi, F.3
Landa, I.4
Leandro-Garcia, L.J.5
Leton, R.6
Honrado, E.7
Ramos-Medina, R.8
Caronia, D.9
Pita, G.10
-
19
-
-
79251512979
-
Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma
-
Eisenhofer, G., Pacak, K., Huynh, T.T., Qin, N., Bratslavsky, G., Linehan, W.M., Mannelli, M., Friberg, P., Grebe, S.K., Timmers, H.J. et al. (2011) Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma. Endocr. Relat. Cancer, 18, 97-111.
-
(2011)
Endocr. Relat. Cancer
, vol.18
, pp. 97-111
-
-
Eisenhofer, G.1
Pacak, K.2
Huynh, T.T.3
Qin, N.4
Bratslavsky, G.5
Linehan, W.M.6
Mannelli, M.7
Friberg, P.8
Grebe, S.K.9
Timmers, H.J.10
-
20
-
-
66949142979
-
Neurofibromatosis type 1
-
1-14; quiz
-
Boyd, K.P., Korf, B.R. and Theos, A. (2009) Neurofibromatosis type 1. J. Am. Acad. Dermatol., 61, 1-14; quiz 15-16.
-
(2009)
J. Am. Acad. Dermatol.
, vol.61
, pp. 15-16
-
-
Boyd, K.P.1
Korf, B.R.2
Theos, A.3
-
21
-
-
0030875888
-
'Cold' single-strand conformational variants for mutation analysis of the RET protooncogene
-
363-370; discussion
-
Musholt, P.B., Musholt, T.J., Goodfellow, P.J., Zehnbauer, B.A., Wells, S.A. Jr. and Moley, J.F. (1997) 'Cold' single-strand conformational variants for mutation analysis of the RET protooncogene. Surgery, 122, 363-370; discussion 370-361.
-
(1997)
Surgery
, vol.122
, pp. 370-361
-
-
Musholt, P.B.1
Musholt, T.J.2
Goodfellow, P.J.3
Zehnbauer, B.A.4
Wells Jr., S.A.5
Moley, J.F.6
-
22
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S. and Sunyaev, S.R. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
23
-
-
0038746912
-
G12S and H50R variations are polymorphisms in the SDHD gene
-
Cascon, A., Ruiz-Llorente, S., Cebrian, A., Leton, R., Telleria, D., Benitez, J. and Robledo, M. (2003) G12S and H50R variations are polymorphisms in the SDHD gene. Genes Chromosomes Cancer, 37, 220-221.
-
(2003)
Genes Chromosomes Cancer
, vol.37
, pp. 220-221
-
-
Cascon, A.1
Ruiz-Llorente, S.2
Cebrian, A.3
Leton, R.4
Telleria, D.5
Benitez, J.6
Robledo, M.7
-
24
-
-
67651198212
-
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis
-
van Nederveen, F.H., Gaal, J., Favier, J., Korpershoek, E., Oldenburg, R.A., de Bruyn, E.M., Sleddens, H.F., Derkx, P., Riviere, J., Dannenberg, H. et al. (2009) An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol., 10, 764-771.
-
(2009)
Lancet Oncol
, vol.10
, pp. 764-771
-
-
van Nederveen, F.H.1
Gaal, J.2
Favier, J.3
Korpershoek, E.4
Oldenburg, R.A.5
de Bruyn, E.M.6
Sleddens, H.F.7
Derkx, P.8
Riviere, J.9
Dannenberg, H.10
-
25
-
-
77951974895
-
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes
-
Gill, A.J., Benn, D.E., Chou, A., Clarkson, A., Muljono, A., Meyer-Rochow, G.Y., Richardson, A.L., Sidhu, S.B., Robinson, B.G. and Clifton-Bligh, R.J. (2010) Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. Hum. Pathol., 41, 805-814.
-
(2010)
Hum. Pathol.
, vol.41
, pp. 805-814
-
-
Gill, A.J.1
Benn, D.E.2
Chou, A.3
Clarkson, A.4
Muljono, A.5
Meyer-Rochow, G.Y.6
Richardson, A.L.7
Sidhu, S.B.8
Robinson, B.G.9
Clifton-Bligh, R.J.10
-
26
-
-
80052540617
-
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas
-
Korpershoek, E., Favier, J., Gaal, J., Burnichon, N., van Gessel, B., Oudijk, L., Badoual, C., Gadessaud, N., Venisse, A., Bayley, J.P. et al. (2011) SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J. Clin. Endocrinol. Metab., 96, E1472-E1476.
-
(2011)
J. Clin. Endocrinol. Metab.
, vol.96
-
-
Korpershoek, E.1
Favier, J.2
Gaal, J.3
Burnichon, N.4
van Gessel, B.5
Oudijk, L.6
Badoual, C.7
Gadessaud, N.8
Venisse, A.9
Bayley, J.P.10
-
27
-
-
67650474245
-
Array-comparative genomic hybridization in sporadic benign pheochromocytomas
-
van Nederveen, F.H., Korpershoek, E., deLeeuw, R.J., Verhofstad, A.A., Lenders, J.W., Dinjens, W.N., Lam, W.L. and de Krijger, R.R. (2009) Array-comparative genomic hybridization in sporadic benign pheochromocytomas. Endocr. Relat. Cancer, 16, 505-513.
-
(2009)
Endocr. Relat. Cancer
, vol.16
, pp. 505-513
-
-
van Nederveen, F.H.1
Korpershoek, E.2
deLeeuw, R.J.3
Verhofstad, A.A.4
Lenders, J.W.5
Dinjens, W.N.6
Lam, W.L.7
de Krijger, R.R.8
-
28
-
-
77955811444
-
Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis
-
Sandgren, J., Diaz de Stahl, T., Andersson, R., Menzel, U., Piotrowski, A., Nord, H., Backdahl, M., Kiss, N.B., Brauckhoff, M., Komorowski, J. et al. (2010) Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis. Endocr. Relat. Cancer, 17, 561-579.
-
(2010)
Endocr. Relat. Cancer
, vol.17
, pp. 561-579
-
-
Sandgren, J.1
Diaz de Stahl, T.2
Andersson, R.3
Menzel, U.4
Piotrowski, A.5
Nord, H.6
Backdahl, M.7
Kiss, N.B.8
Brauckhoff, M.9
Komorowski, J.10
-
29
-
-
0035853287
-
A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
-
Fang, L.J., Simard, M.J., Vidaud, D., Assouline, B., Lemieux, B., Vidaud, M., Chabot, B. and Thirion, J.P. (2001) A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition. J. Mol. Biol., 307, 1261-1270.
-
(2001)
J. Mol. Biol.
, vol.307
, pp. 1261-1270
-
-
Fang, L.J.1
Simard, M.J.2
Vidaud, D.3
Assouline, B.4
Lemieux, B.5
Vidaud, M.6
Chabot, B.7
Thirion, J.P.8
-
30
-
-
34247197937
-
The nonsense-mediated decay RNA surveillance pathway
-
Chang, Y.F., Imam, J.S. and Wilkinson, M.F. (2007) The nonsense-mediated decay RNA surveillance pathway. Annu. Rev. Biochem., 76, 51-74.
-
(2007)
Annu. Rev. Biochem.
, vol.76
, pp. 51-74
-
-
Chang, Y.F.1
Imam, J.S.2
Wilkinson, M.F.3
-
31
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium
-
International HapMap Consortium (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
32
-
-
0037139449
-
Biochemical diagnosis of pheochromocytoma: which test is best?
-
Lenders, J.W., Pacak, K., Walther, M.M., Linehan, W.M., Mannelli, M., Friberg, P., Keiser, H.R., Goldstein, D.S. and Eisenhofer, G. (2002) Biochemical diagnosis of pheochromocytoma: which test is best? JAMA, 287, 1427-1434.
-
(2002)
JAMA
, vol.287
, pp. 1427-1434
-
-
Lenders, J.W.1
Pacak, K.2
Walther, M.M.3
Linehan, W.M.4
Mannelli, M.5
Friberg, P.6
Keiser, H.R.7
Goldstein, D.S.8
Eisenhofer, G.9
-
33
-
-
0029919109
-
Hereditary cancer: two hits revisited
-
Knudson, A.G. (1996) Hereditary cancer: two hits revisited. J. Cancer Res. Clin. Oncol., 122, 135-140.
-
(1996)
J. Cancer Res. Clin. Oncol.
, vol.122
, pp. 135-140
-
-
Knudson, A.G.1
-
34
-
-
20144388300
-
Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1 H19 and preferential 11p15. 5 maternal-allele loss in von Hippel-Lindau and sporadic pheochromocytomas
-
Margetts, C.D., Astuti, D., Gentle, D.C., Cooper, W.N., Cascon, A., Catchpoole, D., Robledo, M., Neumann, H.P., Latif, F. and Maher, E.R. (2005) Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic pheochromocytomas. Endocr. Relat. Cancer, 12, 161-172.
-
(2005)
Endocr. Relat. Cancer
, vol.12
, pp. 161-172
-
-
Margetts, C.D.1
Astuti, D.2
Gentle, D.C.3
Cooper, W.N.4
Cascon, A.5
Catchpoole, D.6
Robledo, M.7
Neumann, H.P.8
Latif, F.9
Maher, E.R.10
-
35
-
-
0025251137
-
The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
-
Martin, G.A., Viskochil, D., Bollag, G., McCabe, P.C., Crosier, W.J., Haubruck, H., Conroy, L., Clark, R., O'Connell, P., Cawthon, R.M. et al. (1990) The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell, 63, 843-849.
-
(1990)
Cell
, vol.63
, pp. 843-849
-
-
Martin, G.A.1
Viskochil, D.2
Bollag, G.3
McCabe, P.C.4
Crosier, W.J.5
Haubruck, H.6
Conroy, L.7
Clark, R.8
O'Connell, P.9
Cawthon, R.M.10
-
36
-
-
54549108740
-
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
-
Cancer Genome Atlas Research Network
-
Cancer Genome Atlas Research Network (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature, 455, 1061-1068.
-
(2008)
Nature
, vol.455
, pp. 1061-1068
-
-
-
37
-
-
73649123907
-
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1
-
Verhaak, R.G., Hoadley, K.A., Purdom, E., Wang, V., Qi, Y., Wilkerson, M.D., Miller, C.R., Ding, L., Golub, T., Mesirov, J.P. et al. (2010) Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell, 17, 98-110.
-
(2010)
Cancer Cell
, vol.17
, pp. 98-110
-
-
Verhaak, R.G.1
Hoadley, K.A.2
Purdom, E.3
Wang, V.4
Qi, Y.5
Wilkerson, M.D.6
Miller, C.R.7
Ding, L.8
Golub, T.9
Mesirov, J.P.10
-
38
-
-
54549094903
-
Somatic mutations affect key pathways in lung adenocarcinoma
-
Ding, L., Getz, G., Wheeler, D.A., Mardis, E.R., McLellan, M.D., Cibulskis, K., Sougnez, C., Greulich, H., Muzny, D.M., Morgan, M.B. et al. (2008) Somatic mutations affect key pathways in lung adenocarcinoma. Nature, 455, 1069-1075.
-
(2008)
Nature
, vol.455
, pp. 1069-1075
-
-
Ding, L.1
Getz, G.2
Wheeler, D.A.3
Mardis, E.R.4
McLellan, M.D.5
Cibulskis, K.6
Sougnez, C.7
Greulich, H.8
Muzny, D.M.9
Morgan, M.B.10
-
39
-
-
79959838081
-
Integrated genomic analyses of ovarian carcinoma
-
Cancer Genome Atlas Research Network
-
Cancer Genome Atlas Research Network (2011) Integrated genomic analyses of ovarian carcinoma. Nature, 474, 609-615.
-
(2011)
Nature
, vol.474
, pp. 609-615
-
-
-
40
-
-
34447114512
-
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type
-
Bausch, B., Borozdin, W., Mautner, V.F., Hoffmann, M.M., Boehm, D., Robledo, M., Cascon, A., Harenberg, T., Schiavi, F., Pawlu, C. et al. (2007) Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type. J. Clin. Endocrinol. Metab., 92, 2784-2792.
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 2784-2792
-
-
Bausch, B.1
Borozdin, W.2
Mautner, V.F.3
Hoffmann, M.M.4
Boehm, D.5
Robledo, M.6
Cascon, A.7
Harenberg, T.8
Schiavi, F.9
Pawlu, C.10
-
41
-
-
10744220011
-
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
-
Upadhyaya, M., Han, S., Consoli, C., Majounie, E., Horan, M., Thomas, N.S., Potts, C., Griffiths, S., Ruggieri, M., von Deimling, A. et al. (2004) Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum. Mutat., 23, 134-146.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 134-146
-
-
Upadhyaya, M.1
Han, S.2
Consoli, C.3
Majounie, E.4
Horan, M.5
Thomas, N.S.6
Potts, C.7
Griffiths, S.8
Ruggieri, M.9
von Deimling, A.10
-
42
-
-
34248338233
-
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption
-
Wimmer, K., Roca, X., Beiglbock, H., Callens, T., Etzler, J., Rao, A.R., Krainer, A.R., Fonatsch, C. and Messiaen, L. (2007) Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption. Hum. Mutat., 28, 599-612.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 599-612
-
-
Wimmer, K.1
Roca, X.2
Beiglbock, H.3
Callens, T.4
Etzler, J.5
Rao, A.R.6
Krainer, A.R.7
Fonatsch, C.8
Messiaen, L.9
-
43
-
-
0033966774
-
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
-
Ars, E., Serra, E., Garcia, J., Kruyer, H., Gaona, A., Lazaro, C. and Estivill, X. (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet., 9, 237-247.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 237-247
-
-
Ars, E.1
Serra, E.2
Garcia, J.3
Kruyer, H.4
Gaona, A.5
Lazaro, C.6
Estivill, X.7
-
44
-
-
0029880743
-
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms
-
Gasparini, P., D'Agruma, L., Pio de Cillis, G., Balestrazzi, P., Mingarelli, R. and Zelante, L. (1996) Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms. Hum. Genet., 97, 492-495.
-
(1996)
Hum. Genet.
, vol.97
, pp. 492-495
-
-
Gasparini, P.1
D'Agruma, L.2
Pio de Cillis, G.3
Balestrazzi, P.4
Mingarelli, R.5
Zelante, L.6
-
45
-
-
0033188212
-
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing
-
Messiaen, L.M., Callens, T., Roux, K.J., Mortier, G.R., De Paepe, A., Abramowicz, M., Pericak-Vance, M.A., Vance, J.M. and Wallace, M.R. (1999) Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. Genet. Med., 1, 248-253.
-
(1999)
Genet. Med.
, vol.1
, pp. 248-253
-
-
Messiaen, L.M.1
Callens, T.2
Roux, K.J.3
Mortier, G.R.4
De Paepe, A.5
Abramowicz, M.6
Pericak-Vance, M.A.7
Vance, J.M.8
Wallace, M.R.9
-
46
-
-
79952223410
-
Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma
-
Eisenhofer, G., Lenders, J.W., Timmers, H., Mannelli, M., Grebe, S.K., Hofbauer, L.C., Bornstein, S.R., Tiebel, O., Adams, K., Bratslavsky, G. et al. (2011) Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clin. Chem., 57, 411-420.
-
(2011)
Clin. Chem.
, vol.57
, pp. 411-420
-
-
Eisenhofer, G.1
Lenders, J.W.2
Timmers, H.3
Mannelli, M.4
Grebe, S.K.5
Hofbauer, L.C.6
Bornstein, S.R.7
Tiebel, O.8
Adams, K.9
Bratslavsky, G.10
-
47
-
-
12344270322
-
Normalization of gene expression measurements in tumor tissues: comparison of 13 endogenous control genes
-
de Kok, J.B., Roelofs, R.W., Giesendorf, B.A., Pennings, J.L., Waas, E.T., Feuth, T., Swinkels, D.W. and Span, P.N. (2005) Normalization of gene expression measurements in tumor tissues: comparison of 13 endogenous control genes. Lab. Invest., 85, 154-159.
-
(2005)
Lab. Invest.
, vol.85
, pp. 154-159
-
-
de Kok, J.B.1
Roelofs, R.W.2
Giesendorf, B.A.3
Pennings, J.L.4
Waas, E.T.5
Feuth, T.6
Swinkels, D.W.7
Span, P.N.8
-
48
-
-
44949231424
-
Analyzing real-time PCR data by the comparative C(T) method
-
Schmittgen, T.D. and Livak, K.J. (2008) Analyzing real-time PCR data by the comparative C(T) method. Nat. Protoc., 3, 1101-1108.
-
(2008)
Nat. Protoc.
, vol.3
, pp. 1101-1108
-
-
Schmittgen, T.D.1
Livak, K.J.2
-
49
-
-
33750275510
-
The BiSearch web server
-
Aranyi, T., Varadi, A., Simon, I. and Tusnady, G.E. (2006) The BiSearch web server. BMC Bioinformatics, 7, 431.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 431
-
-
Aranyi, T.1
Varadi, A.2
Simon, I.3
Tusnady, G.E.4
-
50
-
-
84856921335
-
Alternative splicing of the neurofibromatosis type I pre-mRNA
-
Barron, V.A. and Lou, H. (2012) Alternative splicing of the neurofibromatosis type I pre-mRNA. Biosci. Rep., 32, 131-138.
-
(2012)
Biosci. Rep.
, vol.32
, pp. 131-138
-
-
Barron, V.A.1
Lou, H.2
-
51
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
-
Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
52
-
-
34548707114
-
Laser-capture microdissection
-
Espina, V., Wulfkuhle, J.D., Calvert, V.S., VanMeter, A., Zhou, W., Coukos, G., Geho, D.H., Petricoin, E.F. III and Liotta, L.A. (2006) Laser-capture microdissection. Nat. Protoc., 1, 586-603.
-
(2006)
Nat. Protoc.
, vol.1
, pp. 586-603
-
-
Espina, V.1
Wulfkuhle, J.D.2
Calvert, V.S.3
VanMeter, A.4
Zhou, W.5
Coukos, G.6
Geho, D.H.7
Petricoin III, E.F.8
Liotta, L.A.9
-
53
-
-
0036856355
-
MethPrimer: designing primers for methylation PCRs
-
Li, L.C. and Dahiya, R. (2002) MethPrimer: designing primers for methylation PCRs. Bioinformatics, 18, 1427-1431.
-
(2002)
Bioinformatics
, vol.18
, pp. 1427-1431
-
-
Li, L.C.1
Dahiya, R.2
-
54
-
-
33644510421
-
Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer
-
Banks, R.E., Tirukonda, P., Taylor, C., Hornigold, N., Astuti, D., Cohen, D., Maher, E.R., Stanley, A.J., Harnden, P., Joyce, A. et al. (2006) Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res., 66, 2000-2011.
-
(2006)
Cancer Res
, vol.66
, pp. 2000-2011
-
-
Banks, R.E.1
Tirukonda, P.2
Taylor, C.3
Hornigold, N.4
Astuti, D.5
Cohen, D.6
Maher, E.R.7
Stanley, A.J.8
Harnden, P.9
Joyce, A.10
-
55
-
-
0034772724
-
Promoter hypermethylation of multiple genes in carcinoma of the uterine cervix
-
Dong, S.M., Kim, H.S., Rha, S.H. and Sidransky, D. (2001) Promoter hypermethylation of multiple genes in carcinoma of the uterine cervix. Clin. Cancer Res., 7, 1982-1986.
-
(2001)
Clin. Cancer Res.
, vol.7
, pp. 1982-1986
-
-
Dong, S.M.1
Kim, H.S.2
Rha, S.H.3
Sidransky, D.4
|