Detalhe da pesquisa
1.
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
; 16(1): 79-88, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17667967
2.
A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.
Hormones (Athens)
; 7(3): 251-4, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18694864
3.
Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.
J Clin Endocrinol Metab
; 92(9): 3728-32, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17566086
4.
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
; 92(8): 2938-43, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17535989
5.
Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions.
Am J Surg Pathol
; 31(11): 1764-75, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18059235
6.
A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A.
Hormones (Athens)
; 6(2): 152-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17704047
7.
Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence.
Am J Surg Pathol
; 30(1): 42-9, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16330941
8.
Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.
Cancer Res
; 63(17): 5308-19, 2003 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14500362
9.
Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues.
FASEB J
; 17(9): 1189-91, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12692076
10.
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
J Clin Endocrinol Metab
; 94(6): 2085-91, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19293268
11.
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
Breast Cancer Res Treat
; 107(3): 431-41, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17453335
12.
A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening.
Clin Endocrinol (Oxf)
; 64(5): 561-6, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16649977