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AXIN1 mutations in nonsyndromic craniosynostosis.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2024, v. 34, n. 3, p. 246, doi. 10.3171/2024.5.PEDS24115
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- Publication type:
- Article
Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor.
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- Genes, Chromosomes & Cancer, 2018, v. 57, n. 12, p. 645, doi. 10.1002/gcc.22678
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- Publication type:
- Article
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2 D as a recurrently mutated gene.
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- Genes, Chromosomes & Cancer, 2015, v. 54, n. 9, p. 542, doi. 10.1002/gcc.22267
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- Publication type:
- Article
Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors.
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- Genes, Chromosomes & Cancer, 2012, v. 51, n. 10, p. 949, doi. 10.1002/gcc.21978
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- Publication type:
- Article
The DNA methylome of benign and malignant parathyroid tumors.
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- Genes, Chromosomes & Cancer, 2011, v. 50, n. 9, p. 735, doi. 10.1002/gcc.20895
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- Publication type:
- Article
Characterization of a large Lebanese family segregating IgA nephropathy.
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- Nephrology Dialysis Transplantation, 2007, v. 22, n. 3, p. 772, doi. 10.1093/ndt/gfl677
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- Publication type:
- Article
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
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- Cells (2073-4409), 2022, v. 11, n. 19, p. 3090, doi. 10.3390/cells11193090
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- Publication type:
- Article
Validity of Reported Genetic Risk Factors for Acute Coronary Syndrome.
- Published in:
- 2007
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- Publication type:
- Letter
Nonvalidation of Reported Genetic Risk Factors for Acute Coronary Syndrome in a Large-Scale Replication Study.
- Published in:
- JAMA: Journal of the American Medical Association, 2007, v. 297, n. 14, p. 1551, doi. 10.1001/jama.297.14.1551
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- Publication type:
- Article
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype.
- Published in:
- 1992
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- Publication type:
- journal article
The Congenital Heart Disease Genetic Network Study: Cohort description.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191319
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- Publication type:
- Article
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2318, doi. 10.1093/hmg/ddu749
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- Publication type:
- Article
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
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- Nature Communications, 2016, v. 7, n. 9, p. 12824, doi. 10.1038/ncomms12824
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- Publication type:
- Article
Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival.
- Published in:
- Science Signaling, 2019, v. 12, n. 603, p. 1, doi. 10.1126/scisignal.aaw9315
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- Publication type:
- Article
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
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- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00738-1
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- Publication type:
- Article
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.
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- EMBO Journal, 1997, v. 16, n. 5, p. 899, doi. 10.1093/emboj/16.5.899
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- Publication type:
- Article
NordicDB: a Nordic pool and portal for genome-wide control data.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1322, doi. 10.1038/ejhg.2010.112
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- Publication type:
- Article
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
- Published in:
- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00425
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- Publication type:
- Article
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
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- Nature Genetics, 2015, v. 47, n. 9, p. 996, doi. 10.1038/ng.3361
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- Publication type:
- Article
Genomic landscape of cutaneous T cell lymphoma.
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- Nature Genetics, 2015, v. 47, n. 9, p. 1011, doi. 10.1038/ng.3356
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- Publication type:
- Article
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
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- Nature Genetics, 2014, v. 46, n. 10, p. 1135, doi. 10.1038/ng.3066
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- Publication type:
- Article
Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
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- Nature Genetics, 2014, v. 46, n. 7, p. 759, doi. 10.1038/ng0714-759b
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- Publication type:
- Article
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
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- Nature Genetics, 2014, v. 46, n. 6, p. 613, doi. 10.1038/ng.2956
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- Publication type:
- Article
Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
- Published in:
- Nature Genetics, 2008, v. 40, n. 5, p. 592, doi. 10.1038/ng.118
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- Publication type:
- Article
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal γδ T cells.
- Published in:
- Nature Genetics, 2008, v. 40, n. 5, p. 656, doi. 10.1038/ng.108
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- Publication type:
- Article
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.
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- Nature Genetics, 2006, v. 38, n. 10, p. 1124, doi. 10.1038/ng1877
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- Publication type:
- Article
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia.
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- Nature Genetics, 2006, v. 38, n. 2, p. 214, doi. 10.1038/ng1712
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- Publication type:
- Article
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
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- Nature Genetics, 2004, v. 36, n. 6, p. 575, doi. 10.1038/ng1357
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- Publication type:
- Article
WNK4 regulates the balance between renal NaCl reabsorption and K<sup>+</sup> secretion.
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- Nature Genetics, 2003, v. 35, n. 4, p. 372, doi. 10.1038/ng1271
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- Publication type:
- Article
Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis.
- Published in:
- 2016
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- Publication type:
- journal article
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06315.001
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- Publication type:
- Article
An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred.
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- Pediatric Dermatology, 2012, v. 29, n. 6, p. 725, doi. 10.1111/j.1525-1470.2012.01757.x
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- Publication type:
- Article
A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.
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- Pediatric Nephrology, 2007, v. 22, n. 4, p. 503, doi. 10.1007/s00467-006-0354-5
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- Publication type:
- Article
Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases.
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- Pediatric Nephrology, 2000, v. 14, n. 10/11, p. 970, doi. 10.1007/s004670050054
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- Publication type:
- Article
Low peripheral plasma renin activity as a critical marker in pediatric hypertension.
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- Pediatric Nephrology, 1997, v. 11, n. 3, p. 343, doi. 10.1007/s004670050292
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- Publication type:
- Article
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing.
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- Clinical Genetics, 2019, v. 96, n. 5, p. 473, doi. 10.1111/cge.13617
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- Publication type:
- Article
Clinical and Genetic Correlates of Serum Aldosterone in the Community: The Framingham Heart Study
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- American Journal of Hypertension, 2005, v. 18, n. 5, p. 657, doi. 10.1016/j.amjhyper.2004.12.005
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- Publication type:
- Article
WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K<sup>+</sup> channel ROMK1 (Kir1.1).
- Published in:
- Journal of Physiology, 2006, v. 571, n. 2, p. 275, doi. 10.1113/jphysiol.2005.102202
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- Publication type:
- Article
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
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- American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.924527
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- Publication type:
- Article
Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus.
- Published in:
- Kidney International, 2009, v. 75, n. 4, p. 366, doi. 10.1038/ki.2008.625
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- Publication type:
- Article
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22?23.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 354, doi. 10.1038/81677
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- Publication type:
- Article
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 71, doi. 10.1038/79208
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- Publication type:
- Article
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.
- Published in:
- Nature Genetics, 1998, v. 19, n. 3, p. 279, doi. 10.1038/966
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- Publication type:
- Article
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Glucocorticoid-Remediable Aldosteronism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4341, doi. 10.1210/jcem.84.12.6256
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- Publication type:
- Article
Liddle’s Syndrome: Prospective Genetic Screening and Suppressed Aldosterone Secretion in an Extended Kindred.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 4, p. 1071, doi. 10.1210/jcem.82.4.3862
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- Publication type:
- Article
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
- Published in:
- Human Genetics, 2019, v. 138, n. 10, p. 1105, doi. 10.1007/s00439-019-02042-4
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- Publication type:
- Article
Robust identification of mosaic variants in congenital heart disease.
- Published in:
- Human Genetics, 2018, v. 137, n. 2, p. 183, doi. 10.1007/s00439-018-1871-6
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- Publication type:
- Article
Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.
- Published in:
- 2012
- By:
- Publication type:
- journal article
A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms for Acute Kidney Injury.
- Published in:
- 2017
- By:
- Publication type:
- journal article