Found: 23
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Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus.
- Published in:
- APMIS, 2003, v. 111, p. 92
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- Publication type:
- Article
Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1767-y
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- Publication type:
- Article
Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 548, doi. 10.1186/s12864-015-1767-y
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- Publication type:
- Article
Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1<sup>+/−</sup> mice.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34729-5
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- Article
Voluntary Physical Exercise Induces Expression and Epigenetic Remodeling of <italic>VegfA</italic> in the Rat Hippocampus.
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- Molecular Neurobiology, 2018, v. 55, n. 1, p. 567, doi. 10.1007/s12035-016-0344-y
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- Publication type:
- Article
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 44, doi. 10.1038/sj.ejhg.5201086
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- Publication type:
- Article
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 38, doi. 10.1038/sj.ejhg.5201087
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- Publication type:
- Article
Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
- Published in:
- 2015
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- Publication type:
- journal article
Differential Cellular Handling of Defective Arginine Vasopressin (AVP) Prohormones in Cells Expressing Mutations of the AVP Gene Associated with Autosomal Dominant and Recessive Familial Neurohypophyseal Diabetes Insipidus.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 9, p. 4521, doi. 10.1210/jc.2003-031813
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- Publication type:
- Article
Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
- Published in:
- Clinical Endocrinology, 2008, v. 68, n. 3, p. 395, doi. 10.1111/j.1365-2265.2007.03054.x
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- Publication type:
- Article
Expression of three different mutations in the arginine vasopressin gene suggests genotype–phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds.
- Published in:
- Clinical Endocrinology, 2005, v. 63, n. 2, p. 207, doi. 10.1111/j.1365-2265.2005.02327.x
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- Publication type:
- Article
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.
- Published in:
- Clinical Endocrinology, 2004, v. 60, n. 1, p. 125, doi. 10.1111/j.1365-2265.2004.01953.x
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- Publication type:
- Article
Leptin regulation of Hsp60 impacts hypothalamic insulin signaling.
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- 2013
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- Publication type:
- journal article
Leptin regulation of Hsp60 impacts hypothalamic insulin signaling.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 11, p. 4667, doi. 10.1172/JCI67615
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- Publication type:
- Article
Leptin regulation of Hsp60 impacts hypothalamic insulin signaling.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 1, doi. 10.1172/JCI67615
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- Publication type:
- Article
Identification of the BRD1 interaction network and its impact on mental disorder risk.
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- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0308-x
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- Publication type:
- Article
DNA Methylation Analysis of BRD1 Promoter Regions and the Schizophrenia rs138880 Risk Allele.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170121
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- Publication type:
- Article
Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.
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- Acta Paediatrica, 2012, v. 101, n. 11, p. e519, doi. 10.1111/j.1651-2227.2012.02823.x
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- Publication type:
- Article
Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress.
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- Proteome Science, 2009, v. 7, p. 1, doi. 10.1186/1477-5956-7-20
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- Publication type:
- Article
A Novel Synonymous Variant in the <bold>AVP</bold> Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing.
- Published in:
- Neuroendocrinology, 2018, v. 107, n. 2, p. 167, doi. 10.1159/000491579
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- Publication type:
- Article
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.
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- Neuroendocrinology, 2018, v. 106, n. 2, p. 167, doi. 10.1159/000477246
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- Publication type:
- Article
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene.
- Published in:
- Clinical Endocrinology, 2012, v. 77, n. 4, p. 586, doi. 10.1111/j.1365-2265.2012.04417.x
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- Publication type:
- Article
Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder.
- Published in:
- Bipolar Disorders, 2015, v. 17, n. 2, p. 205, doi. 10.1111/bdi.12239
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- Publication type:
- Article