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Residue 826 in the calcium-sensing receptor is implicated in the response to calcium and to R-568 calcimimetic compound.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Hypertrophic cardiomyopathy and athletes heart: a tale of two entities.
- Published in:
- European Journal of Echocardiography, 2009, v. 10, n. 1, p. 151, doi. 10.1093/ejechocard/jen219
- By:
- Publication type:
- Article
Role of syncope in predicting adverse outcomes in patients with suspected Brugada syndrome undergoing standardized flecainide testing.
- Published in:
- EP: Europace, 2018, v. 20, p. f64, doi. 10.1093/europace/eux315
- By:
- Publication type:
- Article
Role of syncope in predicting adverse outcomes in patients with suspected Brugada syndrome undergoing standardized flecainide testing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Influence of Fcγ Receptor Polymorphisms on Response to Anti-Tumor Necrosis Factor Treatment in Psoriasis.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 12, p. 1376, doi. 10.1001/jamadermatol.2015.2818
- By:
- Publication type:
- Article
Mitochondrial transcription factor A (TFAM) gene variation and risk of late-onset Alzheimer's disease.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Mitochondrial Transcription Factor A (TFAM) Gene Variation and Risk of Late-Onset Alzheimer's Disease.
- Published in:
- Journal of Alzheimer's Disease, 2008, v. 13, n. 3, p. 275, doi. 10.3233/JAD-2008-13305
- By:
- Publication type:
- Article
Factor V Leiden (R506Q) and risk of venous thromboembolism: a case-control study based on the Spanish population.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 4, p. 206, doi. 10.1111/j.1399-0004.1997.tb02548.x
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- Publication type:
- Article
Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss.
- Published in:
- NDT Plus, 2008, v. 1, n. 5, p. 289, doi. 10.1093/ndtplus/sfn103
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- Publication type:
- Article
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Genetic Variants of the NF-κB Pathway: Unraveling the Genetic Architecture of Psoriatic Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 13004, doi. 10.3390/ijms222313004
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- Publication type:
- Article
FURIN gene variants (rs6224/rs4702) as potential markers of death and cardiovascular traits in severe COVID‐19.
- Published in:
- Journal of Medical Virology, 2022, v. 94, n. 8, p. 3589, doi. 10.1002/jmv.27748
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- Publication type:
- Article
Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 12, p. 3846, doi. 10.3390/jcm9123846
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- Publication type:
- Article
Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3489, doi. 10.3390/jcm9113489
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- Publication type:
- Article
Characterization of Left Ventricular Non-Compaction Cardiomyopathy.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2524, doi. 10.3390/jcm9082524
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- Publication type:
- Article
Spectral Analysis of the QT Interval Increases the Prediction Accuracy of Clinical Variables in Brugada Syndrome.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1629, doi. 10.3390/jcm8101629
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- Publication type:
- Article
N-acetyltransferase-2 polymorphisms and schizophrenia
- Published in:
- European Psychiatry, 2006, v. 21, n. 5, p. 333, doi. 10.1016/j.eurpsy.2005.12.002
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- Publication type:
- Article
Psoriasis and type 2 diabetes risk among psoriatic patients in a Spanish population.
- Published in:
- Australasian Journal of Dermatology, 2012, v. 53, n. 2, p. 128, doi. 10.1111/j.1440-0960.2011.00802.x
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- Publication type:
- Article
Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 9, p. 1346, doi. 10.3390/life12091346
- By:
- Publication type:
- Article
Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 6, p. 818, doi. 10.3390/life12060818
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- Publication type:
- Article
KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 4, p. N.PAG, doi. 10.3390/life12040556
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- Publication type:
- Article
The donor ABCB1 (MDR-1) C3435T polymorphism is a determinant of the graft glomerular filtration rate among tacrolimus treated kidney transplanted patients.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 273, doi. 10.1038/jhg.2015.12
- By:
- Publication type:
- Article
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 376, doi. 10.1038/jhg.2014.37
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- Publication type:
- Article
The screening of the 3′UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 346, doi. 10.1038/jhg.2014.26
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- Publication type:
- Article
Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort.
- Published in:
- Cardiogenetics, 2022, v. 12, n. 2, p. 198, doi. 10.3390/cardiogenetics12020018
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- Publication type:
- Article
ABCB1 (MDR-1) pharmacogenetics of tacrolimus in renal transplanted patients: a Next Generation Sequencing approach.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 10, p. 1515, doi. 10.1515/cclm-2014-1195
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- Publication type:
- Article
Pharmacogenetics of tacrolimus after renal transplantation: analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 6, p. 1087, doi. 10.1515/CCLM.2011.179
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- Publication type:
- Article
Pharmacogenetics of tacrolimus after renal transplantation: analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 5, p. 825, doi. 10.1515/CCLM.2011.143
- By:
- Publication type:
- Article
An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 749, doi. 10.1002/ajmg.a.38062
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- Publication type:
- Article
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
- Published in:
- Kidney International, 2014, v. 85, n. 2, p. 383, doi. 10.1038/ki.2013.227
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- Publication type:
- Article
Variability of Genetic Alterations in Different Sites of Head and Neck Cancer.
- Published in:
- Laryngoscope, 2001, v. 111, n. 7, p. 1297, doi. 10.1097/00005537-200107000-00029
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- Publication type:
- Article
Genetic Variation in the H19- IGF2 Cluster Might Confer Risk of Developing Impaired Renal Function.
- Published in:
- DNA & Cell Biology, 2018, v. 37, n. 7, p. 617, doi. 10.1089/dna.2017.4135
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- Publication type:
- Article
SNP rs l1652075 in the CARD 14 Gene as a Risk Factor for Psoriasis (PSORS2) in a Spanish Cohort.
- Published in:
- DNA & Cell Biology, 2013, v. 32, n. 10, p. 601, doi. 10.1089/dna.2013.2109
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- Publication type:
- Article
A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.
- Published in:
- Journal of Molecular Neuroscience, 2015, v. 56, n. 3, p. 613, doi. 10.1007/s12031-015-0560-3
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- Publication type:
- Article
MiRNA Profile in the Substantia Nigra of Parkinson's Disease and Healthy Subjects.
- Published in:
- Journal of Molecular Neuroscience, 2014, v. 54, n. 4, p. 830, doi. 10.1007/s12031-014-0428-y
- By:
- Publication type:
- Article
Mutational Screening of PARKIN Identified a 3′ UTR Variant (rs62637702) Associated with Parkinson's Disease.
- Published in:
- Journal of Molecular Neuroscience, 2013, v. 50, n. 2, p. 264, doi. 10.1007/s12031-012-9942-y
- By:
- Publication type:
- Article
A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson's Disease.
- Published in:
- Journal of Molecular Neuroscience, 2012, v. 47, n. 3, p. 425, doi. 10.1007/s12031-011-9669-1
- By:
- Publication type:
- Article
Amyloid Precursor Protein Gene ( APP) Variation in Late-Onset Alzheimer's Disease.
- Published in:
- Journal of Molecular Neuroscience, 2011, v. 45, n. 1, p. 5, doi. 10.1007/s12031-011-9510-x
- By:
- Publication type:
- Article
Chromosome-Y haplogroups in Asturias (Northern Spain) and their association with severe COVID-19.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02143-4
- By:
- Publication type:
- Article
A 3’-UTR Polymorphism in Soluble Epoxide Hydrolase Gene Is Associated with Acute Rejection in Renal Transplant Recipients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133563
- By:
- Publication type:
- Article
Soluble Co-Signaling Molecules Predict Long-Term Graft Outcome in Kidney-Transplanted Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113396
- By:
- Publication type:
- Article
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
- Published in:
- Nefrologia, 2017, v. 37, n. 4, p. 423, doi. 10.1016/j.nefro.2017.01.007
- By:
- Publication type:
- Article
Pharmacogenetics of tacrolimus: from bench to bedside?
- Published in:
- Nefrologia, 2014, v. 34, n. 1, p. 11, doi. 10.3265/Nefrologia.pre2013.Nov.12267
- By:
- Publication type:
- Article
Cancer in Parkinson's Disease: An Approximation to the Main Risk Factors.
- Published in:
- Neurodegenerative Diseases, 2021, v. 21, n. 1/2, p. 36, doi. 10.1159/000520301
- By:
- Publication type:
- Article
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
- Published in:
- BMC Neurology, 2010, v. 10, p. 89, doi. 10.1186/1471-2377-10-89
- By:
- Publication type:
- Article
P53 allelic loss and outcome in patients with squamous cell carcinoma of the head and neck.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2001, v. 258, n. 5, p. 255, doi. 10.1007/s004050100340
- By:
- Publication type:
- Article
The TNFRSF1B rs1061622 polymorphism (p.M196R) is associated with biological drug outcome in Psoriasis patients.
- Published in:
- Archives of Dermatological Research, 2015, v. 307, n. 5, p. 405, doi. 10.1007/s00403-014-1533-z
- By:
- Publication type:
- Article
Influence of endothelial nitric oxide synthase polymorphisms in psoriasis risk.
- Published in:
- Archives of Dermatological Research, 2011, v. 303, n. 6, p. 445, doi. 10.1007/s00403-011-1129-9
- By:
- Publication type:
- Article
Apolipoprotein ε4 allele is associated with Psoriasis severity: reply.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Apolipoprotein ε4 allele is associated with psoriasis severity.
- Published in:
- Archives of Dermatological Research, 2010, v. 302, n. 2, p. 145, doi. 10.1007/s00403-009-1002-2
- By:
- Publication type:
- Article