Results 51 to 60 of about 6,236 (217)

Комплексний аналіз кореляції генотипу-фенотипу при діагностиці синдрому недиференційованої рецидивної гарячки в дітей

Сучасна педіатрія: Україна
Синдром недиференційованої рецидивної гарячки (syndrome of undiferentiated recurrent fever - SURF) - це гетерогенна група автозапальних захворювань, які характеризуються епізодами системного запалення, не мають підтвердженого молекулярного діагнозу та не
O.R. Boyarchuk
doaj   +1 more source

MEFV gene mutations in Henoch- Schonlein purpura

, 2013
ensari, arzu/0000-0001-7036-4457AimCoexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch-Schonlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to ...
Ensari, Arzu, Derya B. Sayin, Ensari, Cuneyt, Umut Altug, Arzu Ensari, Sayin, Derya B., Altug, Umut, Cuneyt Ensari   +7 more
core   +1 more source

Generation of Mefv^−/− mice.

, 2013
A, Schematic showing the endogenous Mefv locus, gene-targeting construct, and targeted locus after homologous recombination with the targeting construct. Upon homologous recombination, the entire coding region and 5 kb on either side of the Mefv gene was
MyTrang Nguyen (296629), Beverly H. Koller (296631), Martina Kovarova (296630), Jenny P.-Y. Ting (143357), Pamela R. Hesker (296628)   +4 more
core   +1 more source

Long‐term echocardiographic findings in patients with idiopathic recurrent pericarditis treated with anakinra

Internal Medicine Journal, Volume 56, Issue 6, Page 1043-1050, June 2026.
Abstract Aim Idiopathic recurrent pericarditis (IRP) is considered an autoinflammatory disease, and interleukin 1 inhibitors, such as anakinra, are used to treat resistant cases. Constrictive pericarditis, a feared complication, continues to be a critical concern. In the biologic era, evidence on long‐term transthoracic echocardiographic (TTE) findings
Zeynep Toker Dincer, Damla Raimoglou, Erkin Yilmaz, Ayten Dag, Melike Melikoglu, Serdal Ugurlu   +5 more
wiley   +1 more source

MEFV Gene Mutation Analysis in Children with Immunoglobulin A Vasculitis and Its Effects on Clinical Manifestations: A Big Series from a Tertiary Center

Haseki Tıp Bülteni
Aim: Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood, but its pathogenesis is largely unknown, despite evidence pointing to various environmental and genetic factors. We investigated the frequency of MEFV gene mutations that
Sema Yildirim, Zeynep Karakaya, Ozlem Ozcay, Muferet Erguven   +3 more
doaj   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

PW01-003 – Frequency of MEFV mutations in Turkish population [PDF]

Pediatric Rheumatology, 2013
Our results showed that 62 of 388 participants (16.0%) (95% CI:12.5-20.0) were carriers of MEFV mutations. Seven individuals were compound heterozygous, two homozygous and 53 were heterozygous for the mutations. Mutation frequency was 9.2% (95% CI: 7.22-11.4). The most common mutations in the Turkish general population were p.E148Q, p.M694V and p.P369S
Yalcinkaya, F, Duzova, A, Gonen, S, Ozcakar, B, Baskin, E, Ozkaya, O, Soylemezoglu, O   +6 more
openaire   +2 more sources

The relation of MEFV gene variants to clinical phenotype and selected laboratory markers in Egyptian patients with familial Mediterranean fever

Journal of the Arab Society for Medical Research
Background/aim Familial Mediterranean fever (FMF) is an autoinflammatory disease, with a high prevalence in the Mediterranean region. It is brought out by variants in the MEFV gene.
Hala T. El-Bassyouni, Ghada Nour Eldeen, Mona F. Sokkar, Mohamed B. Taher, Mohammed M. Sayed-Ahmed, Iman I. Salama, Hala M. Raslan   +6 more
doaj   +1 more source

An Alternative Perspective to the FMF Clinic: MCP-1 (A-2518G) and CCR2 (G190A) Polymorphisms and MCP1 Expression

Journal of Contemporary Medicine, 2022
Background: Familial Mediterranean Fever (FMF) is an autoinflammatory disease and may express as various clinical findings. Chemokines are crucial elements of the inflammatory process.
Nadir Koçak, Şenol Çitli
doaj   +1 more source