Detalhe da pesquisa
1.
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Mol Genet Genomics
; 297(3): 859-871, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451682
2.
Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Genet Med
; 20(12): 1644-1651, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740169
3.
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
J Med Genet
; 52(10): 647-56, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269449
4.
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
Hum Mol Genet
; 22(11): 2169-76, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418310
5.
Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.
Neuromuscul Disord
; 33(7): 557-561, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37329680
6.
Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers.
BMC Med Genomics
; 15(1): 45, 2022 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246124
7.
[Cystinosis: diagnosis through the measurement of the leukocyte cystine content by HPLC]. / Cistinosis: diagnóstico mediante la determinación del contenido de cistina intraleucocitaria por cromatografía líquida de alta resolución.
Med Clin (Barc)
; 123(3): 97-9, 2004 Jun 19.
Artigo
em Espanhol
| MEDLINE | ID: mdl-15225475
8.
Characterization of HLA class I altered phenotypes in a panel of human melanoma cell lines.
Cancer Immunol Immunother
; 57(5): 719-29, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17934731
9.
Coordinated downregulation of the antigen presentation machinery and HLA class I/beta2-microglobulin complex is responsible for HLA-ABC loss in bladder cancer.
Int J Cancer
; 113(4): 605-10, 2005 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-15455355
10.
Different regulation of PKC isoenzymes and MAPK by PSK and IL-2 in the proliferative and cytotoxic activities of the NKL human natural killer cell line.
Cancer Immunol Immunother
; 52(1): 59-64, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12536241
11.
Analysis of HLA-E expression in human tumors.
Immunogenetics
; 54(11): 767-75, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12618909