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Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis
(BIOMED CENTRAL LTDLONDON, 2012)
Background: Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF) are Chronic Myeloproliferative Neoplasms (MPN) characterized by clonal myeloproliferation/myeloaccumulation without cell maturation impairment. The ...
Distribution of HLA-DRB1 alleles in countries with high tuberculosis burden (Brazil, Russia, India, China and South Africa): a systematic review and meta-analysis
(Sociedade Brasileira de Medicina Tropical, 2017)
Jak2 46/1 Haplotype Is Associated With Jak2 V617f-positive Myeloproliferative Neoplasms In Brazilian Patients
(WILEY-BLACKWELLHOBOKEN, 2015)
Distribution of HLA-DRB1 alleles in BRICS countries with a high tuberculosis burden: a systematic review and meta-analysis
(Sociedade Brasileira de Medicina Tropical, 2021)
Design Of An Allele-specific Pcr Assay To Genotype The Rs12255372 Snp In A Pilot Study Of Association Between Common Tcf7l2 Polymorphisms And Type 2 Diabetes In Venezuelans
(SBEM-Soc Brasil Endocrinologia & MetabologiaRio de Janeiro, 2016)
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
(National Academy of Sciences, 2014)
© 2014, National Academy of Sciences. All rights reserved. Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated ...
Diversity of apolipoprotein E genetic polymorphism significance on cardiovascular risk is determined by the presence of metabolic syndrome among hypertensive patients
(Biomed Central Ltd, 2014-11-20)
Background: Hypertension has a significant relevance as a cardiovascular risk factor. A consistent increase on world's Metabolic Syndrome (MetS) incidence has been associated with an epidemic cardiovascular risk in different ...
Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes
(2023)
Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular diseases, respectively. Unhealthy lifestyles, ...
Analysing an allelic series of rare missense variants of 1 CACNA1I in a Swedish schizophrenia cohort
(2021)
CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic association studies of single nucleotide polymorphisms. However, the channelopathy of CACNA1I in schizophrenia is unknown. CACNA1I encodes ...
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort
(2021)
CACNA1I is implicated in the susceptibility to schizophrenia by large-scale genetic association studies of single nucleotide polymorphisms. However, the channelopathy of CACNA1I in schizophrenia is unknown. CACNA1I encodes ...