Results 121 to 130 of about 6,862 (214)

International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients [PDF]

, 2017
Objectives. The aims of this study were to describe the clinical features of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) and identify distinct phenotypes in a large cohort of patients from different countries.
Anton, Jordi, Berg, Stefan, Brik, Riva, Cochard, Marie-Madeleine, Duquesne, Agnès, Gattorno, Marco, Hentgen, Véronique, Hofer, Michaël, Kaiser, Daniela, Kone-Paut, Isabelle, Krol, Petra, Neven, Bénédicte, Pillet, Pascal, Rigante, Donato, Touitou, Isabelle, Wouters, Carine   +15 more
core  

Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis. [PDF]

Pan Afr Med J, 2022
Missoum H, Adadi N, Alami M, Toufik H, Bouyahya A, Laarabi FZ, Bachir F, Maghraoui AE, Bakri Y.   +8 more
europepmc   +1 more source

PFAPA syndrome is not a sporadic disease [PDF]

, 2017
Objectives. To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes. Method.
Clet, Johanna, Cochard, Marie, Faouzi, Mohammed, Guéron, Thierry, Hofer, Michaël, Le, Lan, Onrubia, Xavier, Pillet, Pascal   +7 more
core  

An association between MEFV mutation and ANCA-associated vasculitis involving the central nervous system and lungs: causality under scrutiny

European Journal of Case Reports in Internal Medicine
Familial Mediterranean fever (FMF) is traditionally associated with biallelic mutations in the MEFV gene; however, heterozygous mutations may also contribute to disease phenotypes.
Marcus Villander Barros de Oliveira Sá, Amanda Brito, Miriam Baié, Flávio Pacheco, Luydson Vasconcelos   +4 more
doaj   +1 more source

Клінічний випадок сімейної середземноморської лихоманки як прояву первинного імунодефіциту в дитини [PDF]

, 2014
Мета — ознайомити лікарів із діагностичними критеріями сімейної Середземноморської лихоманки та описати окремий клінічний випадок. Матеріали та методи: метод генеалогічного аналізу, загальноклінічне, імунологічне та молекулярно генетичне обстеження ...
Дмитрук, Тетяна Василівна, Підвисоцька, Наталія Іванівна, Сорокман, Таміла Василівна   +2 more
core  

＜Editors' Choice＞ Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report. [PDF]

Nagoya J Med Sci, 2023
Takahashi N, Hanajiri R, Suzuki M, Anan C, Inagaki A, Kishida D, Ozawa S, Kohri S, Kamiya N, Sato M, Sato J.   +10 more
europepmc   +1 more source

Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever [PDF]

, 2015

core   +1 more source

MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Ardabil Province

Journal of Ardabil University of Medical Sciences, 2019
Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area.
Farhad Salehzadeh, Afshan Sharghi, Atena Moteyagheni, Saeid Hosseini asl, Mahsa Mottaghi, Sepehr Sarkhanloo   +5 more
doaj  

Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.

JAMA Dermatol, 2021
Vahidnezhad H, Youssefian L, Saeidian AH, Ziaee V, Mahmoudi H, Parvaneh N, Ashjaei B, Shahrokh S, Kamyab Hesari K, Soltani Zangbar M, Yousefi M, Zeinali S, Uitto J.   +12 more
europepmc   +1 more source

Assessment of Surrogate Markers for Cardiovascular Disease in Familial Mediterranean Fever-Related Amyloidosis Patients Homozygous for M694V Mutation in MEFV Gene. [PDF]

Life (Basel), 2022
Sahin S, Romano M, Guzel F, Piskin D, Poddighe D, Sezer S, Kasapcopur O, Appleton CT, Yilmaz I, Demirkaya E.   +9 more
europepmc   +1 more source