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List of works by Reza Mirfakhraie

A Bioinformatics Approach to the Identification of Variants Associated with Type 1 and Type 2 Diabetes Mellitus that Reside in Functionally Validated miRNAs Binding Sites.

scientific article

A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population

scientific article published on 10 July 2018

A bioinformatics approach for identification of miR-100 targets implicated in breast cancer

scientific article published on 31 October 2017

A candidate intronic CYP24A1 gene variant affects the risk of colorectal cancer

scientific article published on 05 December 2019

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)

scientific article published on 17 May 2020

A novel SRD5A2 mutation in an Iranian family with sex development disorder

scientific article published on 25 October 2020

A novel mutation in the transactivation-regulating domain of the androgen receptor in a patient with azoospermia.

scientific article

ACE gene rs4343 polymorphism elevates the risk of preeclampsia in pregnant women

scientific article published on 20 August 2018

ANRIL and ANRASSF1 long noncoding RNAs are upregulated in gastric cancer

scientific article published on 04 March 2019

Aberrant Wnt/β-Catenin Signaling Pathway in Testis of Azoospermic Men.

scientific article

Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene

scientific article published on 28 June 2023

An Association Study between Longitudinal Changes of Leukocyte Telomere and the Risk of Azoospermia in a Population of Iranian Infertile Men

scientific article

An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation

scientific article

An intron variant in the FLT1 gene increases the risk of preeclampsia in Iranian women

article

Angiotensin-converting enzyme gene rs4343 polymorphism increases susceptibility to migraine

scientific article published on 18 June 2017

Association Study of rs3184504 C>T Polymorphism in Patients With Coronary Artery Disease

scientific article

Association analysis of the GABRB3 promoter variant and susceptibility to autism spectrum disorder

scientific article published in March 2018

Association between Long Noncoding RNA ANRIL Expression Variants and Susceptibility to Coronary Artery Disease

scientific article published on 10 February 2018

Association of CpG-SNP and 3'UTR-SNP of WFS1 with the Risk of Type 2 Diabetes Mellitus in an Iranian Population.

scientific article published on 21 November 2017

Association of Increased Levels of lncRNA H19 in PBMCs with Risk of Coronary Artery Disease

scientific article published on 01 August 2018

Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population.

scientific article

Association of lncRNA-p53 regulatory network (lincRNA-p21, lincRNA-ROR and MALAT1) and p53 with the clinicopathological features of colorectal primary lesions and tumors

scientific article published on 07 April 2020

Association of β-Secretase Functional Polymorphism with Risk of Schizophrenia.

scientific article

Association study of FOXP3 gene and the risk of 0020 pre-eclampsia

scientific article published on 5 December 2017

Authors response

Autophagy ATG16L1 rs2241880 impacts the colorectal cancer risk: A case-control study

scientific article published in January 2022

BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia.

scientific article

Bioinformatics prioritization of SNPs perturbing microRNA regulation of hematological malignancy-implicated genes.

scientific article published on 28 October 2015

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

scientific article published on 15 April 2024

CREB-binding protein (CREBBP) and preeclampsia: a new promising target gene

scientific article published on 24 February 2021

CYP24A1 expression analysis in uterine leiomyoma regarding MED12 mutation profile

scientific article published on 06 October 2020

Combination of cold atmospheric plasma and iron nanoparticles in breast cancer: gene expression and apoptosis study

scientific article

Comparative expression analysis of hypoxia-inducible factor-alpha and its natural occurring antisense in breast cancer tissues and adjacent noncancerous tissues.

scientific article published on 12 November 2016

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

scientific article published on 12 January 2024

Correlated downregulation of VDR and CYP3A4 in colorectal cancer

scientific article published on 5 December 2022

Cytogenetic abnormalities in the lymphocytes of a female patient with primary breast carcinoma

scientific article published on 01 January 2002

Differential expression of <i>Hsa-miR-517a/b</i> in placental tissue may contribute to the pathogenesis of preeclampsia

scientific article published in 2021

Docetaxel-Chitosan nanoparticles for breast cancer treatment: cell viability and gene expression study.

scientific article published on 7 July 2016

Dysregulation of vitamin D synthesis pathway genes in colorectal cancer: A case-control study

scientific article published on 14 October 2020

Ectopic expression of CYP24A1 circular RNA hsa_circ_0060927 in uterine leiomyomas

scientific article published on 20 November 2019

Effects of Quinacrine on Expression of Hippo signaling Pathway Components (LATS1, LATS2, and YAP) in Human Breast Cancer Stem Cells

scientific article published on 01 November 2020

Evaluating the association of common UBE2Z variants with coronary artery disease in an Iranian population

scholarly article by Milad Bastami et al published 20 November 2015 in Cellular and Molecular Biology

Evaluation of Placental mir-155-5p and Long Non-coding RNA sONE Expression in Patients with Severe Pre-eclampsia

scientific article published on 17 January 2017

Evaluation of promoter methylation status of MLH1 gene in Iranian patients with colorectal tumors and adenoma polyps.

scientific article published in January 2017

Expression Study and Clinical Correlations of MYC and CCAT2 in Breast Cancer Patients.

scientific article published in September 2017

Expression analysis of AFAP1-AS1 and AFAP1 in breast cancer.

scientific article published on 29 January 2018

Expression analysis of four long noncoding RNAs in breast cancer

scientific article published on 27 September 2015

Expression analysis of long non-coding ATB and its putative target in breast cancer.

scientific article published on 02 June 2017

Expression analysis of two cancer-testis genes, FBXO39 and TDRD4, in breast cancer tissues and cell lines

scientific article published on January 2014

Expression of Glycogen synthase kinase 3-β (GSK3-β) gene in azoospermic men.

scientific article

Expression profiling of breast cancer patients treated with tamoxifen: prognostic or predictive significance.

scientific article published on 22 February 2014

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection

scientific article published on 15 July 2023

First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations.

scientific article published in December 2004

Frequent incidence of double minute chromosomes in cancers, with special up-to-date reference to leukemia

scientific article published on 01 January 2011

Genetic variants and expression study of FOXP3 gene in acute coronary syndrome in Iranian patients

scientific article

Genetic variations in UGT2B28, UGT2B17, UGT2B15 genes and the risk of prostate cancer: A case-control study.

scientific article published on 4 September 2017

Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: A case-control study

scientific article published on 17 June 2016

HIWI2 rs508485 Polymorphism Is Associated with Non-obstructive Azoospermia in Iranian Patients

scientific article published on April 2017

High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia

scientific article published in September 2010

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

scientific article published on 31 January 2022

Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia

scientific article published on 9 January 2018

Karyotypic evolution: cytogenetics follow-up study in childhood acute lymphoblastic leukemia

scientific article published on 01 August 2003

Lack of association between LXRα and LXRβ gene polymorphisms and prevalence of metabolic syndrome: a case-control study of an Iranian population

scientific article published on 4 October 2013

Lactobacilli Differentially Modulate mTOR and Wnt/ β-Catenin Pathways in Different Cancer Cell Lines.

scientific article published on 15 June 2016

Lactobacilli Modulate Hypoxia-Inducible Factor (HIF)-1 Regulatory Pathway in Triple Negative Breast Cancer Cell Line.

scientific article published on 30 May 2016

LncRNA SRA1 may play a role in the uterine leiomyoma tumor growth regarding the MED12 mutation pattern

scientific article published on 29 August 2019

MAP3K1 May be a Promising Susceptibility Gene for Type 2 Diabetes Mellitus in an Iranian Population

scientific article published on 21 August 2016

MiRNA-Related Polymorphisms in miR-146a and TCF21 Are Associated with Increased Susceptibility to Coronary Artery Disease in an Iranian Population.

scientific article

Mutational screening of the NR5A1 in azoospermia.

scientific article published on 20 April 2014

Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms

scientific article published on 14 July 2014

Neuropilin-1 expression is associated with lymph node metastasis in breast cancer tissues

scientific article published on 11 July 2018

Novel long noncoding RNAs upregulation may have synergistic effects on the CYP24A1 and PFDN4 biomarker role in human colorectal cancer

scientific article published on 02 August 2020

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA

scientific article published on 11 August 2015

Premutations of FMR1 CGG repeats are not related to idiopathic premature ovarian failure in Iranian patients: A case control study

scientific article published on 18 July 2018

Prognostic and predictive value of copy number alterations in invasive breast cancer as determined by multiplex ligation-dependent probe amplification.

scientific article published on 27 February 2014

Promyelocytic Leukemia (PML) Gene Mutations may not Contribute to Gastric Adenocarcinoma Development

RAR-related orphan receptor A (RORA): A new susceptibility gene for multiple sclerosis.

scientific article published on 24 August 2016

RAR-related orphan receptor A: One gene with multiple functions related to migraine

scientific article published on 05 September 2020

RIT2, a susceptibility gene for Parkinson's disease in Iranian population.

scientific article published on 19 July 2014

Regulation of BAX/BCL2 gene expression in breast cancer cells by docetaxel-loaded human serum albumin nanoparticles.

scientific article

SN38-PEG-PLGA-verapamil nanoparticles inhibit proliferation and downregulate drug transporter ABCG2 gene expression in colorectal cancer cells.

scientific article published on 25 September 2017

SOCS gene family expression profile in the blood of multiple sclerosis patients

scientific article published on 9 February 2017

Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of relapsing-remitting multiple sclerosis

scientific article

Study of Linc00574 Regulatory Effect on the TCTE3 Expression in Sperm Motility

scientific article published on 04 August 2020

TRAIL gene expression analysis in multiple sclerosis patients.

scientific article published in May 2016

TTY2 genes deletions as genetic risk factor of male infertility

scientific article

The Differential DNA Hypermethylation Patterns of microRNA-137 and microRNA-342 Locus in Early Colorectal Lesions and Tumours

scientific article published on 21 September 2019

The association between FOXP3 gene variations and autism: True or false positive?

scientific article published on 5 September 2017

The expression analysis of LATS2 gene in de novo AML patients.

scientific article

The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum

scientific article published on 29 February 2024

The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.

scientific article published in July 2006

The pre-mir-27a variant rs895819 may contribute to type 2 diabetes mellitus susceptibility in an Iranian cohort.

scientific article published on 14 June 2016

The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques

scientific article published on 6 October 2011

The role of parental microRNA alleles in recurrent pregnancy loss: an association study.

scientific article

The rs4846049 polymorphism in the 3'UTR region of the MTHFR gene increases the migraine susceptibility in an Iranian population.

scientific article published on 5 January 2018

The study of MED12 gene mutations in uterine leiomyomas from Iranian patients

scientific article published on 23 August 2015

The value of the plasma circulating cell-free DNA concentration and integrity index as a clinical tool for prostate cancer diagnosis: a prospective case-control cohort study in an Iranian population

scientific article published on 16 May 2019

Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.

scientific article published on 20 December 2013

miR-30a promoter variation contributes to the increased risk of colorectal cancer in an Iranian population

scientific article published on 01 November 2018

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