Detalhe da pesquisa
1.
The effect of hypoxia on ZEB1 expression in a mimetic system of the blood-brain barrier.
Microvasc Res
; 122: 131-135, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30144413
2.
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.
Neuroendocrinology
; 106(2): 167-186, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28494452
3.
A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing.
Neuroendocrinology
; 107(2): 167-180, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29949799
4.
Determination of the renal concentration capacity following intravenous administration of dDAVP in healthy humans.
Scand J Clin Lab Invest
; 78(1-2): 114-119, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361858
5.
Mice heterozygous for an inactivated allele of the schizophrenia associated Brd1 gene display selective cognitive deficits with translational relevance to schizophrenia.
Neurobiol Learn Mem
; 141: 44-52, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341151
6.
Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq.
BMC Genomics
; 16: 548, 2015 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26208977
7.
Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder.
Bipolar Disord
; 17(2): 205-11, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25053281
8.
Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
BMC Nephrol
; 16: 217, 2015 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26714855
9.
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice.
Neurobiol Dis
; 54: 12-23, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23466696
10.
A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred.
Pituitary
; 16(2): 152-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22695750
11.
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene.
Clin Endocrinol (Oxf)
; 77(4): 586-92, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22524462
12.
Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.
Acta Paediatr
; 101(11): e519-25, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22931312
13.
Identification of genetic loci associated with nocturnal enuresis: a genome-wide association study.
Lancet Child Adolesc Health
; 5(3): 201-209, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33453761
14.
Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.
Scand J Urol Nephrol
; 44(5): 324-30, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20459358
15.
Reduced Brd1 expression leads to reversible depression-like behaviors and gene-expression changes in female mice.
Transl Psychiatry
; 10(1): 239, 2020 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681022
16.
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.
Am J Physiol Renal Physiol
; 297(6): F1518-25, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19812297
17.
Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress.
Proteome Sci
; 7: 20, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19476632
18.
Identification of common genetic risk variants for autism spectrum disorder.
Nat Genet
; 51(3): 431-444, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30804558
19.
Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
Clin Endocrinol (Oxf)
; 68(3): 395-403, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17941907
20.
Voluntary Physical Exercise Induces Expression and Epigenetic Remodeling of VegfA in the Rat Hippocampus.
Mol Neurobiol
; 55(1): 567-582, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27975171