Cargando…

MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study

BACKGROUND: Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder in the world. It is characterized by recurrent febrile inflammatory attacks of serosal and synovial membranes. MEFV gene mutations are responsible for the disease and its protein product, pyrin or marenostrin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Salah, Samia, Hegazy, Ranya, Ammar, Rasha, Sheba, Hala, AbdelRahman, Lobna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931676/ https://www.ncbi.nlm.nih.gov/pubmed/24433404 http://dx.doi.org/10.1186/1546-0096-12-5

Ejemplares similares

Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective
por: Ben-Zvi, I, et al.
Publicado: (2015)

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?
por: Shahbaznejad, Leila, et al.
Publicado: (2018)

Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations
por: Kimura, Kazuki, et al.
Publicado: (2018)

Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever
por: Salah, Samia, et al.
Publicado: (2016)

Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients
por: Zekry, May E., et al.
Publicado: (2023)

Familial Mediterranean fever without MEFV mutations: a case–control study
por: Ben-Zvi, Ilan, et al.
Publicado: (2015)

Cold Exposure Related Fever with an Mediterranean Fever (MEFV) Gene Mutation
por: Kumei, Shima, et al.
Publicado: (2017)

MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
por: Salehzadeh, Farhad, et al.
Publicado: (2015)

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever
por: Kirectepe, Asli K, et al.
Publicado: (2011)

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
por: Medlej-Hashim, Myrna, et al.
Publicado: (2010)

The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach
por: Jéru, Isabelle, et al.
Publicado: (2013)

P01-028 – MEFV mutation in Morrocan child wuth familial Mediterranean fever
por: Chkirate, B, et al.
Publicado: (2013)

MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever
por: ÇAKIR, Necati, et al.
Publicado: (2021)

The MEFV Gene Pathogenic Variants and Phenotype-genotype Correlation in Children with Familial Mediterranean Fever in the Çanakkale Population
por: Battal, F, et al.
Publicado: (2016)

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura
por: Salah, Samia, et al.
Publicado: (2014)

NOD2 Versus MEFV: Differential Diagnosis of Yao Syndrome and Familial Mediterranean Fever
por: Yao, Qingping, et al.
Publicado: (2021)

A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever
por: Dogan, Hasan, et al.
Publicado: (2014)

Genetic Variation in the Familial Mediterranean Fever Gene (MEFV) and Risk for Crohn's Disease and Ulcerative Colitis
por: Villani, Alexandra-Chloé, et al.
Publicado: (2009)

MEFV gene methylation pattern analysis in familial Mediterranean fever patients with altered expression levels
por: Ulum, YZ Akkaya, et al.
Publicado: (2015)

Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever
por: Accetturo, Matteo, et al.
Publicado: (2020)

Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study
por: Mansour, Amal R., et al.
Publicado: (2019)

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia
por: Yildirim, Malik Ejder, et al.
Publicado: (2019)

Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population
por: Yigit, Serbulent, et al.
Publicado: (2012)

Sweet's syndrome in a patient with compound heterozygous mutations in the Mediterranean fever gene (MEFV)
por: Michelson, M, et al.
Publicado: (2015)

The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family
por: Mejtoute, Touhami, et al.
Publicado: (2017)

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
por: Medlej-Hashim, Myrna, et al.
Publicado: (2004)

Assessment of MEFV Gene Mutations in Exon 10 in Familial Mediterranean Fever Patients from Iranian Azeri and Turkish Population
por: BONYADI, Morteza, et al.
Publicado: (2016)

Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
por: Fallahi, Gholam Hossein, et al.
Publicado: (2013)

Gene–Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever
por: Stoler, Iris, et al.
Publicado: (2020)

Genotyping of familial Mediterranean fever gene (MEFV)—Single nucleotide polymorphism—Comparison of Nanopore with conventional Sanger sequencing
por: Schmidt, Jonas, et al.
Publicado: (2022)

Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19
por: Nakayama, Tomohiro, et al.
Publicado: (2022)

Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine
por: Talaat, Hala S., et al.
Publicado: (2020)

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis
por: Shinar, Yael, et al.
Publicado: (2015)

Assessment of Surrogate Markers for Cardiovascular Disease in Familial Mediterranean Fever-Related Amyloidosis Patients Homozygous for M694V Mutation in MEFV Gene
por: Sahin, Sezgin, et al.
Publicado: (2022)

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant
por: Sato, Tomonobu, et al.
Publicado: (2021)

Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
por: Fujimoto, Kyoko, et al.
Publicado: (2020)

Diagnostic Dilemma of Cardiac Syncope in Pediatric Patients
por: Hegazy, Ranya A, et al.
Publicado: (2008)

Cardiac manifestations of Familial Mediterranean fever
por: Alsarah, Ahmad, et al.
Publicado: (2017)

A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report
por: Zerkaoui, Maria, et al.
Publicado: (2018)

Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis
por: Li, Zhixiu, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_g7vp1ml9veuhrhqjr1p5t2aell