-
1
-
-
85047682409
-
Guidelines for diagnosis and therapy of MEN type 1 and type 2
-
Brandi ML, Gagel RF, Angeli A et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86: 5658-71.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5658-5671
-
-
Brandi, M.L.1
Gagel, R.F.2
Angeli, A.3
-
2
-
-
18344391292
-
Hereditary hormone excess: Genes, molecular pathways, and syndromes
-
Marx SJ, Simonds WF. Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev 2005; 26: 615-61.
-
(2005)
Endocr Rev
, vol.26
, pp. 615-661
-
-
Marx, S.J.1
Simonds, W.F.2
-
3
-
-
66849094613
-
Uncommon endocrine tumors in children and adolescents
-
Section 11: Pediatric Malignancies. In: Raghavan D, Brecher ML, Johnson DH, Meropol NJ, Moots PL, Rose PG, Mayer IA (Assoc. Editor), eds. chapter 70. Hoboken, NJ, USA: John Wiley & Sons, Ltd
-
Ribeiro RC, Rodriguez-Galindo C, Zambetti GP et al. Uncommon endocrine tumors in children and adolescents. Section 11: Pediatric Malignancies. In: Raghavan D, Brecher ML, Johnson DH, Meropol NJ, Moots PL, Rose PG, Mayer IA (Assoc. Editor), eds. Textbook of Uncommon Cancers, 3rd edn. chapter 70. Hoboken, NJ, USA: John Wiley & Sons, Ltd, 2006; 775-97.
-
(2006)
Textbook of Uncommon Cancers, 3rd Edn.
, pp. 775-797
-
-
Ribeiro, R.C.1
Rodriguez-Galindo, C.2
Zambetti, G.P.3
-
4
-
-
22444446739
-
Multiple endocrine neoplasias in the era of translational medicine
-
Stratakis CA, Marx SJ. Multiple endocrine neoplasias in the era of translational medicine. Horm Metab Res 2005; 37: 343-6.
-
(2005)
Horm Metab Res
, vol.37
, pp. 343-346
-
-
Stratakis, C.A.1
Marx, S.J.2
-
5
-
-
12344317822
-
Multiple endocrine neoplasia - An introduction
-
Marx SJ, Stratakis CA. Multiple endocrine neoplasia - an introduction. J Intern Med 2005; 257: 2-5.
-
(2005)
J Intern Med
, vol.257
, pp. 2-5
-
-
Marx, S.J.1
Stratakis, C.A.2
-
6
-
-
33744486595
-
Pituitary adenoma predisposition caused by germline mutations in the AIP gene
-
Vierimaa O, Georgitsi M, Lehtonen R et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006; 312: 1228-30.
-
(2006)
Science
, vol.312
, pp. 1228-1230
-
-
Vierimaa, O.1
Georgitsi, M.2
Lehtonen, R.3
-
7
-
-
33745548423
-
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia
-
Horvath A, Boikos S, Giatzakis C et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) 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
Giatzakis, C.3
-
8
-
-
39049101528
-
Mutation in PDE8B, a cAMP-specific phosphodiesterase in adrenal hyperplasia
-
Horvath A, Mericq V, Stratakis CA. Mutation in PDE8B, a cAMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med 2008; 358: 750-2.
-
(2008)
N Engl J Med
, vol.358
, pp. 750-752
-
-
Horvath, A.1
Mericq V.Stratakis, C.A.2
-
9
-
-
33750361636
-
Germline mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans
-
Pellegata NS, Quintanilla-Martinez L, Siggelkow H et al. Germline mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA 2006; 103: 15558-63.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 15558-15563
-
-
Pellegata, N.S.1
Quintanilla-Martinez, L.2
Siggelkow, H.3
-
11
-
-
34447560185
-
Germline CDKN1B? p27Kip1 mutation in multiple endocrine neoplasia
-
Georgitsi M, Raitila A, Karhu A et al. Germline CDKN1B ? p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 2007; 92: 3321-5.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3321-3325
-
-
Georgitsi, M.1
Raitila, A.2
Karhu, A.3
-
12
-
-
34548386693
-
Mutations of the genes coding for the succinate dehydrogenase subunit genes in familial gastrointestinal tumors
-
Stratakis CA from the Carney Triad & Carney-Stratakis Dyad ? Syndrome Consortium.
-
McWhinney SR, Pasini B & Stratakis CA from the Carney Triad & Carney-Stratakis Dyad ? Syndrome Consortium. Mutations of the genes coding for the succinate dehydrogenase subunit genes in familial gastrointestinal tumors. N Engl J Med 2007; 357: 1054-6.
-
(2007)
N Engl J Med
, vol.357
, pp. 1054-1056
-
-
McWhinney, S.R.1
Pasini, B.2
-
13
-
-
37349074531
-
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
-
Pasini B, McWhinney SR, Bei T et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 2008; 16: 79-88.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 79-88
-
-
Pasini, B.1
McWhinney, S.R.2
Bei, T.3
-
14
-
-
66849143816
-
SDH mutations in tumourigenesis and inherited endocrine tumours: Lesson from the phaeochromocytoma-paraganglioma syndromes
-
Pasini B, Stratakis CA. SDH mutations in tumourigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med 2009; 266: 19-42.
-
(2009)
J Intern Med
, vol.266
, pp. 19-42
-
-
Pasini, B.1
Stratakis, C.A.2
-
15
-
-
34547781842
-
Genetics of Carney triad: Recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors
-
Matyakhina L, Bei TA, McWhinney SR et al. Genetics of Carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab 2007; 92: 2938-43.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2938-2943
-
-
Matyakhina, L.1
Bei, T.A.2
McWhinney, S.R.3
-
16
-
-
66849135214
-
The triad of paragangliomas, gastric stromal tumors, and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis Syndrome): Molecular genetics and clinical implications
-
Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumors, and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis Syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266: 43-52.
-
(2009)
J Intern Med
, vol.266
, pp. 43-52
-
-
Stratakis, C.A.1
Carney, J.A.2
-
17
-
-
0035170832
-
GENEM (Groupe d' Etude des Neoplasies Endocriniennes Multiples). Deregulation of genetic pathways in neuroendocrine tumors
-
Calender A, Vercherat C, Gaudray P, Chayvialle JA. GENEM (Groupe d' Etude des Neoplasies Endocriniennes Multiples). Deregulation of genetic pathways in neuroendocrine tumors. Ann Oncol 2001; 12(Suppl 2): S3-11.
-
(2001)
Ann Oncol
, vol.12
, Issue.SUPPL. 2
-
-
Calender, A.1
Vercherat, C.2
Gaudray, P.3
Chayvialle, J.A.4
-
18
-
-
0037046659
-
Germ-line mutations in nonsyndromic pheochromocytoma
-
Neumann HP, Bausch B, McWhinney SR et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-66.
-
(2002)
N Engl J Med
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.1
Bausch, B.2
McWhinney, S.R.3
-
19
-
-
33846242137
-
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population
-
Horvath A, Giatzakis C, Robinson-White A et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res 2006; 66: 11571-5.
-
(2006)
Cancer Res
, vol.66
, pp. 11571-11575
-
-
Horvath, A.1
Giatzakis, C.2
Robinson-White, A.3
-
20
-
-
66849100568
-
Timmers HThM. Multiple endocrine neoplasia type 1: A chromatin writer's block
-
Dreijerink KMA, Lips CJM, Timmers HThM. Multiple endocrine neoplasia type 1: a chromatin writer's block. J Intern Med 2009; 266: 53-59.
-
(2009)
J Intern Med
, vol.266
, pp. 53-59
-
-
Dreijerink, K.M.A.1
Lips, C.J.M.2
-
21
-
-
66849111848
-
Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex
-
Kirschner LS. Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex. J Intern Med 2009; 266: 60-68.
-
(2009)
J Intern Med
, vol.266
, pp. 60-68
-
-
Kirschner, L.S.1
-
22
-
-
66849131542
-
DNA-based test: When and why to apply it to primary hyperparathyroidism clinical phenotypes
-
Falchetti A, Marini F, Giusti F, Cavalli L, Cavalli T, Brandi ML. DNA-based test: when and why to apply it to primary hyperparathyroidism clinical phenotypes. J Intern Med 2009; 266: 69-83.
-
(2009)
J Intern Med
, vol.266
, pp. 69-83
-
-
Falchetti, A.1
Marini, F.2
Giusti, F.3
Cavalli, L.4
Cavalli, T.5
Brandi, M.L.6
-
24
-
-
66849128386
-
Beyond RET: Potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma
-
Santarpia L, Ye L, Gagel RF. Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma. J Intern Med 2009; 266: 99-113.
-
(2009)
J Intern Med
, vol.266
, pp. 99-113
-
-
Santarpia, L.1
Ye, L.2
Gagel, R.F.3
-
25
-
-
66849132541
-
Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: Clinical opportunities
-
Machens A, Lorenz K, Dralle H. Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: clinical opportunities. J Intern Med 2009; 266: 114-125.
-
(2009)
J Intern Med
, vol.266
, pp. 114-125
-
-
Machens, A.1
Lorenz, K.2
Dralle, H.3
-
26
-
-
66849087637
-
Medullary thyroid carcinoma and biomarkers: Past, present and future
-
van Veelen W, de Groot JWB, Acton DS et al. Medullary thyroid carcinoma and biomarkers: past, present and future. J Intern Med 2009; 266: 126-140.
-
(2009)
J Intern Med
, vol.266
, pp. 126-140
-
-
Van Veelen, W.1
De Groot, J.W.B.2
Acton, D.S.3
|