Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iran











Abstract
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Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iranby
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missen [...] 73 547 |
Relationship between the Severity of Chest CT Scan Lesions, Arterial Oxygenation and Inflammatory Markers in High – Altitude Patients with Covid-19by
![]() ![]() ![]() ![]() ![]() ![]() Abstract This study aims to determine the relationship between the severity of lung tomographic compromise with arterial oxygenation and inflammatory markers in patients with COVID-19, and to evaluate the relationship between the CTSS tomographic severity score and the mortality risk in a high-altitude popul [...] 90 721 |
Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1Abstract Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number [...] 112 914 |
Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experienceby
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eig [...] 139 1417 |
Validation of Fluorescence in Situ hybridization (FISH) Assay Using An Analyte-Specific Reagent in Detecting Aneuploidies of Chromosomes 13, 18, 21, X, and Y in Prenatal Diagnosisby
![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test lab [...] 160 1522 |
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Acknowledgment to Reviewers of OBM Genetics in 2022Abstract The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer c [...] 115 1091 |
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The Actual Situation of Covid-19 Infection at High Altitudes in PerúAbstract This study aimed to reveal the evolution and characteristics of the COVID-19 pandemic in high-altitude areas of Perú.
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Cytohistopathological Correlation of 884 Cervical Pap Smears as Bethesda System 2014: A Hospital-Based StudyAbstract Cervical carcinoma is most common in Indian women of which Rural women are predominantly affected. The most common etiological factor is human papillomavirus (HPV ). The present study aims to assess the diagnostic accuracy, sensitivity, specificity, and different patterns of cervical Pap smears by c [...] 188 1566 |
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