-
1
-
-
33845875992
-
Cancer phenomics: RET and PTEN as illustrative models
-
Zbuk K., Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer 2007, 7:35-45.
-
(2007)
Nat Rev Cancer
, vol.7
, pp. 35-45
-
-
Zbuk, K.1
Eng, C.2
-
2
-
-
0027231568
-
Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
-
Mulligan L.M., Kwok J.B.J., Healey C.S., Elsdon M.J., Eng C., Gardner E., Love D.R., Mole S.E., Moore J.K., Papi L., et al. Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993, 363:458-460.
-
(1993)
Nature
, vol.363
, pp. 458-460
-
-
Mulligan, L.M.1
Kwok, J.B.J.2
Healey, C.S.3
Elsdon, M.J.4
Eng, C.5
Gardner, E.6
Love, D.R.7
Mole, S.E.8
Moore, J.K.9
Papi, L.10
-
3
-
-
0028199074
-
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
-
Mulligan L.M., Eng C., Healey C.S., Clayton D., Kwok J.B.J., Gardner E., Ponder M.A., Frilling A., Jackson C.E., Lehnert H., et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994, 6:70-74.
-
(1994)
Nat Genet
, vol.6
, pp. 70-74
-
-
Mulligan, L.M.1
Eng, C.2
Healey, C.S.3
Clayton, D.4
Kwok, J.B.J.5
Gardner, E.6
Ponder, M.A.7
Frilling, A.8
Jackson, C.E.9
Lehnert, H.10
-
4
-
-
4644256817
-
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis
-
Eng C., Clayton D., Schuffenecker I., Lenoir G., Cote G., Gagel R.F., Ploos van Amstel H.K., Lips C.J.M., Nishisho I., Takai S.-I., et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. J Am Med Assoc 1996, 276:1575-1579.
-
(1996)
J Am Med Assoc
, vol.276
, pp. 1575-1579
-
-
Eng, C.1
Clayton, D.2
Schuffenecker, I.3
Lenoir, G.4
Cote, G.5
Gagel, R.F.6
Ploos van Amstel, H.K.7
Lips, C.J.M.8
Nishisho, I.9
Takai, S.-I.10
-
5
-
-
67749130797
-
Medullary thyroid carcinoma: Management Guidelines of the American Thyroid Association
-
Kloos R.T., Eng C., Evans D.B., Francis G.L., Gagel R., Gharib H., Moley J.F., Pacini F., Ringel M.D., Schlumberger M., Wells S.A. Medullary thyroid carcinoma: Management Guidelines of the American Thyroid Association. Thyroid 2009, 19:565-612.
-
(2009)
Thyroid
, vol.19
, pp. 565-612
-
-
Kloos, R.T.1
Eng, C.2
Evans, D.B.3
Francis, G.L.4
Gagel, R.5
Gharib, H.6
Moley, J.F.7
Pacini, F.8
Ringel, M.D.9
Schlumberger, M.10
Wells, S.A.11
-
6
-
-
0036798174
-
The pressure rises: update on the genetics of phaeochromocytoma
-
Maher E.R., Eng C. The pressure rises: update on the genetics of phaeochromocytoma. Hum Mol Genet 2002, 11:2347-2354.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2347-2354
-
-
Maher, E.R.1
Eng, C.2
-
7
-
-
0028174024
-
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
-
Hofstra R.M.W., Landsvater R.M., Ceccherini I., Stulp R.P., Stelwagen T., Luo Y., Pasini B., Höppener J.W.M., Ploos van Amstel H.K., Romeo G., et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994, 367:375-376.
-
(1994)
Nature
, vol.367
, pp. 375-376
-
-
Hofstra, R.M.W.1
Landsvater, R.M.2
Ceccherini, I.3
Stulp, R.P.4
Stelwagen, T.5
Luo, Y.6
Pasini, B.7
Höppener, J.W.M.8
Ploos van Amstel, H.K.9
Romeo, G.10
-
8
-
-
0028006092
-
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
-
Eng C., Smith D.P., Mulligan L.M., Nagai M.A., Healey C.S., Ponder M.A., Gardner E., Scheumann G.F.W., Jackson C.E., Tunnacliffe A., Ponder B.A.J. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 1994, 3:237-241.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 237-241
-
-
Eng, C.1
Smith, D.P.2
Mulligan, L.M.3
Nagai, M.A.4
Healey, C.S.5
Ponder, M.A.6
Gardner, E.7
Scheumann, G.F.W.8
Jackson, C.E.9
Tunnacliffe, A.10
Ponder, B.A.J.11
-
9
-
-
0030722592
-
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation
-
Gimm O., Marsh D.J., Andrew S.D., Frilling A., Dahia P.L.M., Mulligan L.M., Zajak J.D., Robinson B.G., Eng C. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab 1997, 82:3902-3904.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3902-3904
-
-
Gimm, O.1
Marsh, D.J.2
Andrew, S.D.3
Frilling, A.4
Dahia, P.L.M.5
Mulligan, L.M.6
Zajak, J.D.7
Robinson, B.G.8
Eng, C.9
-
10
-
-
0031765304
-
A new hotspot for mutations in the RET proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia
-
Berndt I., Reuter M., Saller B., Frank-Raue K., Groth P., Grussendorf M., Raue F., Ritter M.M., Höppner W. A new hotspot for mutations in the RET proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia. J Clin Endocrinol Metab 1998, 83:770-774.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 770-774
-
-
Berndt, I.1
Reuter, M.2
Saller, B.3
Frank-Raue, K.4
Groth, P.5
Grussendorf, M.6
Raue, F.7
Ritter, M.M.8
Höppner, W.9
-
11
-
-
0036919493
-
RET proto-oncogene mutations affecting codon 790/791: a mild form of multiple endocrine neoplasia type 2A syndrome
-
Gimm O., Niederle B.E., Weber T., Bockhorn M., Uktar J., Brauckhoff M., Thanh P.N., Frilling A., Klar E., Niederle B., Dralle H. RET proto-oncogene mutations affecting codon 790/791: a mild form of multiple endocrine neoplasia type 2A syndrome. Surgery 2002, 132:952-959.
-
(2002)
Surgery
, vol.132
, pp. 952-959
-
-
Gimm, O.1
Niederle, B.E.2
Weber, T.3
Bockhorn, M.4
Uktar, J.5
Brauckhoff, M.6
Thanh, P.N.7
Frilling, A.8
Klar, E.9
Niederle, B.10
Dralle, H.11
-
12
-
-
75149174167
-
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau disease
-
Erlic Z., Hoffmann M.M., Sullivan M., Franke G., Peczkowska M., Harsch I., Schott M., Gabbert H.E., Valimaki M., Preuss S.F., et al. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau disease. J Clin Endocrinol Metab 2010, 95:308-313.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 308-313
-
-
Erlic, Z.1
Hoffmann, M.M.2
Sullivan, M.3
Franke, G.4
Peczkowska, M.5
Harsch, I.6
Schott, M.7
Gabbert, H.E.8
Valimaki, M.9
Preuss, S.F.10
-
13
-
-
0027185569
-
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
-
Lyonnet S., Bolino A., Pelet A., Abel L., Nihoul-Fekété C., Briard M.L., Mok-Siu V., Kaariainen H., Martucciello G., Lerone M., et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 1993, 4:346-350.
-
(1993)
Nat Genet
, vol.4
, pp. 346-350
-
-
Lyonnet, S.1
Bolino, A.2
Pelet, A.3
Abel, L.4
Nihoul-Fekété, C.5
Briard, M.L.6
Mok-Siu, V.7
Kaariainen, H.8
Martucciello, G.9
Lerone, M.10
-
14
-
-
0029069528
-
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
-
Angrist M., Bolk S., Thiel B., Puffenberger E.G., Hofstra R.M., Buys C.H.C.M., Cass D.T., Chakravarti A. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 1995, 4:821-830.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 821-830
-
-
Angrist, M.1
Bolk, S.2
Thiel, B.3
Puffenberger, E.G.4
Hofstra, R.M.5
Buys, C.H.C.M.6
Cass, D.T.7
Chakravarti, A.8
-
15
-
-
38349112858
-
Hirschsprung disease, associated syndromes and genetics: a review
-
Amiel J., Sproat-Emison E., Garcia-Barcelo M., Lantieri F., Burzynski G., Borrego S., Pelet A., Arnold S., Miao X., Griseri P., et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008, 45:1-14.
-
(2008)
J Med Genet
, vol.45
, pp. 1-14
-
-
Amiel, J.1
Sproat-Emison, E.2
Garcia-Barcelo, M.3
Lantieri, F.4
Burzynski, G.5
Borrego, S.6
Pelet, A.7
Arnold, S.8
Miao, X.9
Griseri, P.10
-
16
-
-
0027972513
-
Mutations of the RET proto-oncogene in Hirschsprung's disease
-
Edery P., Lyonnet S., Mulligan L.M., Pelet A., Dow E., Abel L., Holder S., Nihoul-Fekété C., Ponder B.A.J., Munnich A. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994, 367:378-380.
-
(1994)
Nature
, vol.367
, pp. 378-380
-
-
Edery, P.1
Lyonnet, S.2
Mulligan, L.M.3
Pelet, A.4
Dow, E.5
Abel, L.6
Holder, S.7
Nihoul-Fekété, C.8
Ponder, B.A.J.9
Munnich, A.10
-
17
-
-
0028120882
-
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
-
Romeo G., Ronchetto P., Luo Y., Barone V., Seri M., Ceccherini I., Pasini B., Bocciardi R., Lerone M., Kääriäinen H., Martucciello G. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994, 367:377-378.
-
(1994)
Nature
, vol.367
, pp. 377-378
-
-
Romeo, G.1
Ronchetto, P.2
Luo, Y.3
Barone, V.4
Seri, M.5
Ceccherini, I.6
Pasini, B.7
Bocciardi, R.8
Lerone, M.9
Kääriäinen, H.10
Martucciello, G.11
-
18
-
-
0027932572
-
A 7bp deletion of the RET proto-oncogene in familial Hirschsprung's disease
-
Attié T., Pelet A., Sarda P., Eng C., Edery P., Mulligan L.M., Ponder B.A.J., Munnich A., Lyonnet S. A 7bp deletion of the RET proto-oncogene in familial Hirschsprung's disease. Hum Mol Genet 1994, 3:1439-1440.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1439-1440
-
-
Attié, T.1
Pelet, A.2
Sarda, P.3
Eng, C.4
Edery, P.5
Mulligan, L.M.6
Ponder, B.A.J.7
Munnich, A.8
Lyonnet, S.9
-
19
-
-
0028566385
-
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
-
Mulligan L.M., Eng C., Attié T., Lyonnet S., Marsh D.J., Hyland V.J., Robinson B.G., Frilling A., Verellen-Dumoulin C., Safar A., et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 1994, 3:2163-2167.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2163-2167
-
-
Mulligan, L.M.1
Eng, C.2
Attié, T.3
Lyonnet, S.4
Marsh, D.J.5
Hyland, V.J.6
Robinson, B.G.7
Frilling, A.8
Verellen-Dumoulin, C.9
Safar, A.10
-
20
-
-
0032521177
-
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease
-
Pelet A., Geneste O., Edery P., Pasini A., Chappuis S., Attié T., Munnich A., Lenoir G., Lyonnet S., Billaud M. Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. J Clin Invest 1998, 101:1415-1423.
-
(1998)
J Clin Invest
, vol.101
, pp. 1415-1423
-
-
Pelet, A.1
Geneste, O.2
Edery, P.3
Pasini, A.4
Chappuis, S.5
Attié, T.6
Munnich, A.7
Lenoir, G.8
Lyonnet, S.9
Billaud, M.10
-
21
-
-
0034254457
-
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease
-
Bordeaux M.C., Forcet C., Granger L., Corset V., Bidaud C., Billaud M., Bredesen D.E., Edery P., Mehlen P. The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease. EMBO J 2000, 19:4056-4063.
-
(2000)
EMBO J
, vol.19
, pp. 4056-4063
-
-
Bordeaux, M.C.1
Forcet, C.2
Granger, L.3
Corset, V.4
Bidaud, C.5
Billaud, M.6
Bredesen, D.E.7
Edery, P.8
Mehlen, P.9
-
22
-
-
0033545406
-
Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation
-
Gimm O., Neuberg D.S., Marsh D.J., Dahia P.L.M., Hoang-Vu C., Raue F., Hinze R., Dralle H., Eng C. Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 1999, 18:1369-1370.
-
(1999)
Oncogene
, vol.18
, pp. 1369-1370
-
-
Gimm, O.1
Neuberg, D.S.2
Marsh, D.J.3
Dahia, P.L.M.4
Hoang-Vu, C.5
Raue, F.6
Hinze, R.7
Dralle, H.8
Eng, C.9
-
23
-
-
0037217482
-
A founding locus within the RET proto-oncogene may account for the majority of apparently sporadic Hirschsprung disease and a subset of sporadic medullary thyroid cancer
-
Borrego S., Wright F.A., Fernández R.M., Williams N., López-Alonso M., Davuluri R., Antiñolo G., Eng C. A founding locus within the RET proto-oncogene may account for the majority of apparently sporadic Hirschsprung disease and a subset of sporadic medullary thyroid cancer. Am J Hum Genet 2003, 72:88-100.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 88-100
-
-
Borrego, S.1
Wright, F.A.2
Fernández, R.M.3
Williams, N.4
López-Alonso, M.5
Davuluri, R.6
Antiñolo, G.7
Eng, C.8
-
24
-
-
27744559793
-
Polymorphisms in the initiators of RET signaling pathway and susceptibility to sporadic medullary thyroid carcinoma
-
Cebrian A., Lesueur F., Martin S., Leyland J., Ahmed S., Luccanni C., Smith P.L., Luben R., Whittaker J., Pharoah P.D., et al. Polymorphisms in the initiators of RET signaling pathway and susceptibility to sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 2005, 90:6268-6274.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 6268-6274
-
-
Cebrian, A.1
Lesueur, F.2
Martin, S.3
Leyland, J.4
Ahmed, S.5
Luccanni, C.6
Smith, P.L.7
Luben, R.8
Whittaker, J.9
Pharoah, P.D.10
-
25
-
-
2442750413
-
Specific polymorphisms in the RET proto-oncogene are over-represented in individuals with Hirschsprung disease and may represent loci modifying phenotypic expression
-
Borrego S., Saez M.E., Ruiz A., Gimm O., Lopez-Alonso M., Antiñolo G., Eng C. Specific polymorphisms in the RET proto-oncogene are over-represented in individuals with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 1999, 36:771-774.
-
(1999)
J Med Genet
, vol.36
, pp. 771-774
-
-
Borrego, S.1
Saez, M.E.2
Ruiz, A.3
Gimm, O.4
Lopez-Alonso, M.5
Antiñolo, G.6
Eng, C.7
-
26
-
-
0033854456
-
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
-
Borrego S., Saez M.E., Ruiz A., Gimm O., Gao X., Lopez-Alonso M., Hernandez A., Wright F.A., Antiñolo G., Eng C. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 2000, 37:572-578.
-
(2000)
J Med Genet
, vol.37
, pp. 572-578
-
-
Borrego, S.1
Saez, M.E.2
Ruiz, A.3
Gimm, O.4
Gao, X.5
Lopez-Alonso, M.6
Hernandez, A.7
Wright, F.A.8
Antiñolo, G.9
Eng, C.10
-
27
-
-
2342640283
-
The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer
-
Fernandez R.M., Robledo M., Antinolo G., Pecina A., Ruiz-Llorente S., Eng C., Borrego S. The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer. Thyroid 2004, 14:329-331.
-
(2004)
Thyroid
, vol.14
, pp. 329-331
-
-
Fernandez, R.M.1
Robledo, M.2
Antinolo, G.3
Pecina, A.4
Ruiz-Llorente, S.5
Eng, C.6
Borrego, S.7
-
28
-
-
17144373665
-
Ancestral RET haplotype associated with Hirschsprung disease shows linkage disequilibrium breakpoint at -1249
-
Fernandez R.M., Boru G., Peciña A., Jones K., Lopez-Alonso M., Antiñolo G., Borrego S., Eng C. Ancestral RET haplotype associated with Hirschsprung disease shows linkage disequilibrium breakpoint at -1249. J Med Genet 2005, 42:322-327.
-
(2005)
J Med Genet
, vol.42
, pp. 322-327
-
-
Fernandez, R.M.1
Boru, G.2
Peciña, A.3
Jones, K.4
Lopez-Alonso, M.5
Antiñolo, G.6
Borrego, S.7
Eng, C.8
-
29
-
-
33751079621
-
A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes
-
Ruiz-Ferrer M., Fernandez R.M., Aniñolo G., Lopez-Alonso M., Eng C., Borrego S. A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes. Genet Med 2006, 8:704-710.
-
(2006)
Genet Med
, vol.8
, pp. 704-710
-
-
Ruiz-Ferrer, M.1
Fernandez, R.M.2
Aniñolo, G.3
Lopez-Alonso, M.4
Eng, C.5
Borrego, S.6
-
30
-
-
0035912105
-
Over-representation of a germline variant in the gene encoding RET co-receptor GFRa-1 but not GFRa-2 or GFRa-3 in cases with sporadic medullary thyroid carcinoma
-
Gimm O., Dziema H., Brown J.L., Hoang-Vu C., Hinze R., Dralle H., Mulligan L.M., Eng C. Over-representation of a germline variant in the gene encoding RET co-receptor GFRa-1 but not GFRa-2 or GFRa-3 in cases with sporadic medullary thyroid carcinoma. Oncogene 2001, 20:2161-2170.
-
(2001)
Oncogene
, vol.20
, pp. 2161-2170
-
-
Gimm, O.1
Dziema, H.2
Brown, J.L.3
Hoang-Vu, C.4
Hinze, R.5
Dralle, H.6
Mulligan, L.M.7
Eng, C.8
-
31
-
-
26244435937
-
Familial risks for non-medullary thyroid cancer
-
Hemminki K., Eng C., Chen B. Familial risks for non-medullary thyroid cancer. J Clin Endocrinol Metab 2005, 90:5747-5753.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 5747-5753
-
-
Hemminki, K.1
Eng, C.2
Chen, B.3
-
32
-
-
84929875736
-
-
Cambridge University Press, Cambridge
-
Hodgson S.V., Foulkes W.D., Eng C., Maher E.R. Practical Handbook of Human Cancer Genetics 2006, Cambridge University Press, Cambridge. 3rd edn.
-
(2006)
Practical Handbook of Human Cancer Genetics
-
-
Hodgson, S.V.1
Foulkes, W.D.2
Eng, C.3
Maher, E.R.4
-
33
-
-
33846289198
-
Excess of rare cancers in Werner syndrome (adult progeria)
-
Goto M., Miller R.W., Ishikawa Y., Sugano H. Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomark Prevent 1996, 5:239-246.
-
(1996)
Cancer Epidemiol Biomark Prevent
, vol.5
, pp. 239-246
-
-
Goto, M.1
Miller, R.W.2
Ishikawa, Y.3
Sugano, H.4
-
34
-
-
0034853288
-
Clinical and molecular features of the Carney complex diagnostic criteria and recommendations for patient evaluation
-
Stratakis C.A., Kirschner L.S., Carney J.A. Clinical and molecular features of the Carney complex diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001, 86:4041-4046.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4041-4046
-
-
Stratakis, C.A.1
Kirschner, L.S.2
Carney, J.A.3
-
35
-
-
4143105824
-
Distinct clinical features characterize paraganglioma syndromes associated with SDHB and SDHD mutations
-
Neumann H.P.H., Pawlu C., Peçzkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T., et al. Distinct clinical features characterize paraganglioma syndromes associated with SDHB and SDHD mutations. J Am Med Assoc 2004, 292:943-951.
-
(2004)
J Am Med Assoc
, vol.292
, pp. 943-951
-
-
Neumann, H.P.H.1
Pawlu, C.2
Peçzkowska, M.3
Bausch, B.4
McWhinney, S.R.5
Muresan, M.6
Buchta, M.7
Franke, G.8
Klisch, J.9
Bley, T.10
-
36
-
-
9144249602
-
Early onset renal cell carcinoma as novel extra-paraganglial component of SDHB-associated heritable paraganglioma
-
Vanharanta S., Virta S.R., Lehtonen R., Järvinen H., Mecklin J.-P., Juhola M., Herva R., Nupponen N.N., Aaltonen L.A., Buchta M., et al. Early onset renal cell carcinoma as novel extra-paraganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 2004, 74:153-159.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 153-159
-
-
Vanharanta, S.1
Virta, S.R.2
Lehtonen, R.3
Järvinen, H.4
Mecklin, J.-P.5
Juhola, M.6
Herva, R.7
Nupponen, N.N.8
Aaltonen, L.A.9
Buchta, M.10
-
37
-
-
0034183813
-
Familial papillary thyroid cancer-many syndromes, too many genes?
-
Eng C. Familial papillary thyroid cancer-many syndromes, too many genes?. J Clin Endocrinol Metab 2000, 85:1755-1757.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 1755-1757
-
-
Eng, C.1
-
38
-
-
63449092713
-
Common variants on 9q22.33 and 14q13.3 predisposes to thyroid cancer in European populations
-
Gudmundsson J., Sulem P., Gudbjartsson D.F., Jonasson J.G., Sigurdsson A., Bergthorsson J.T., He H., Blondai T., Geller F., Jakobsdottir M., et al. Common variants on 9q22.33 and 14q13.3 predisposes to thyroid cancer in European populations. Nature 2009, 41:460-464.
-
(2009)
Nature
, vol.41
, pp. 460-464
-
-
Gudmundsson, J.1
Sulem, P.2
Gudbjartsson, D.F.3
Jonasson, J.G.4
Sigurdsson, A.5
Bergthorsson, J.T.6
He, H.7
Blondai, T.8
Geller, F.9
Jakobsdottir, M.10
-
39
-
-
33748752233
-
A limited set of human microRNA's are deregulated in follicular thyroid carcinoma
-
Weber F., Tereski R.E., Broelsch C.E., Frilling A., Eng C. A limited set of human microRNA's are deregulated in follicular thyroid carcinoma. J Clin Endocrinol Metab 2006, 91:3584-3591.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3584-3591
-
-
Weber, F.1
Tereski, R.E.2
Broelsch, C.E.3
Frilling, A.4
Eng, C.5
-
40
-
-
44449153200
-
Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma
-
Jadziewski K., Murray E.L., Fransilla K., Jarzab B., Schoenberg D.R., delaChapelle A. Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma. Proc Natl Acad Sci U S A 2008, 105:7269-7274.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 7269-7274
-
-
Jadziewski, K.1
Murray, E.L.2
Fransilla, K.3
Jarzab, B.4
Schoenberg, D.R.5
delaChapelle, A.6
-
41
-
-
60849084449
-
Polymorphic mature micro-RNAs from passenger strand of miR-146a contribute to thyroid cancer
-
Jadziewski K., Liyanarachchi S., Panchucki J., Ringel M.D., Jarzab B., delaChapelle A. Polymorphic mature micro-RNAs from passenger strand of miR-146a contribute to thyroid cancer. Proc Natl Acad Sci U S A 2009, 106:1502-1505.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 1502-1505
-
-
Jadziewski, K.1
Liyanarachchi, S.2
Panchucki, J.3
Ringel, M.D.4
Jarzab, B.5
delaChapelle, A.6
-
42
-
-
33744486595
-
Pituitary adenoma predisposition caused by germline mutations in the AIP gene
-
Vierimaa O., Georgitsi M., Lehtonen R., Vahteristo P., Kokko A., Raitila A., Tuppurainen K., Ebeling T.M., Salmela P.I., Paschke R., et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006, 312:1228-1230.
-
(2006)
Science
, vol.312
, pp. 1228-1230
-
-
Vierimaa, O.1
Georgitsi, M.2
Lehtonen, R.3
Vahteristo, P.4
Kokko, A.5
Raitila, A.6
Tuppurainen, K.7
Ebeling, T.M.8
Salmela, P.I.9
Paschke, R.10
-
43
-
-
72749104668
-
Genome-wide scan identifies modifier loci acromegalic phenotypes for isolated familial somatotropinoma
-
Khoo S.K., Pendek R., Nicholov R., Luccio-Camelo D.C., Newton T.L., Massie A., Petillo D., Menon J., Cameron D., Teh B.T., Chan S.P. Genome-wide scan identifies modifier loci acromegalic phenotypes for isolated familial somatotropinoma. Endocr Relat Cancer 2009, 16:1057-1063.
-
(2009)
Endocr Relat Cancer
, vol.16
, pp. 1057-1063
-
-
Khoo, S.K.1
Pendek, R.2
Nicholov, R.3
Luccio-Camelo, D.C.4
Newton, T.L.5
Massie, A.6
Petillo, D.7
Menon, J.8
Cameron, D.9
Teh, B.T.10
Chan, S.P.11
-
44
-
-
0033812849
-
Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex
-
Kirschner L.S., Carney J.A., Pack S., Taymans S.E., Giatzakis C., Cho Y.S., Cho-Chung Y.S., Stratakis C.A. Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex. Nat Genet 2000, 26:89-92.
-
(2000)
Nat Genet
, vol.26
, pp. 89-92
-
-
Kirschner, L.S.1
Carney, J.A.2
Pack, S.3
Taymans, S.E.4
Giatzakis, C.5
Cho, Y.S.6
Cho-Chung, Y.S.7
Stratakis, C.A.8
-
45
-
-
33745548423
-
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A4) in individuals with adrenocortical hyperplasia
-
Horvath A., Boikos S., Glatzakis C., Robinson-White A., Groussin L., Griffin K.L., Stein E., Levine E., Delimpasi G., Hsiao H.P., et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A4) in individuals with adrenocortical hyperplasia. Nat Genet 2006, 38:794-800.
-
(2006)
Nat Genet
, vol.38
, pp. 794-800
-
-
Horvath, A.1
Boikos, S.2
Glatzakis, C.3
Robinson-White, A.4
Groussin, L.5
Griffin, K.L.6
Stein, E.7
Levine, E.8
Delimpasi, G.9
Hsiao, H.P.10
-
47
-
-
67650505040
-
Functional phosphodiesterase 11A mutations modify the risk of familial and bilateral testicular germ cell tumours
-
Horvath A., Korde L., Greene M.H., Libe R., Osorio P., Faucz F.R., Raffin-Sanson M.L., Tsang K.M., Krori-Herishanu L., Patronas Y., et al. Functional phosphodiesterase 11A mutations modify the risk of familial and bilateral testicular germ cell tumours. Cancer Res 2009, 69:5301-5306.
-
(2009)
Cancer Res
, vol.69
, pp. 5301-5306
-
-
Horvath, A.1
Korde, L.2
Greene, M.H.3
Libe, R.4
Osorio, P.5
Faucz, F.R.6
Raffin-Sanson, M.L.7
Tsang, K.M.8
Krori-Herishanu, L.9
Patronas, Y.10
-
48
-
-
71749100887
-
A practical guide to the interpretation and clinical application of personal genomic screening
-
Edelman E., Eng C. A practical guide to the interpretation and clinical application of personal genomic screening. Br Med J 2009, 339:b4253.
-
(2009)
Br Med J
, vol.339
-
-
Edelman, E.1
Eng, C.2
-
49
-
-
69549126536
-
The scientific foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop
-
Khoury M.J., McBride C.M., Schully S.D., Ioannidis J.P., Feero W.G., Janssens A.C., Gwimm M., Simons-Morton D.G., Bernhardt J.M., Cargill M., et al. The scientific foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med 2009, 11:559-567.
-
(2009)
Genet Med
, vol.11
, pp. 559-567
-
-
Khoury, M.J.1
McBride, C.M.2
Schully, S.D.3
Ioannidis, J.P.4
Feero, W.G.5
Janssens, A.C.6
Gwimm, M.7
Simons-Morton, D.G.8
Bernhardt, J.M.9
Cargill, M.10
|