Detalhe da pesquisa
1.
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Am J Hum Genet
; 88(1): 115-20, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211618
2.
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.
Eur J Endocrinol
; 172(4): 461-72, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740874
3.
In vivo analysis of DNA methylation patterns recognized by specific proteins: coupling CHIP and bisulfite analysis.
Biotechniques
; 37(4): 666-8, 670, 672-3, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15517979
4.
EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursors.
PLoS One
; 5(8): e12015, 2010 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20700488
5.
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
Blood
; 107(2): 514-9, 2006 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16210343