[HTML][HTML] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

G Giancane, NM Ter Haar, N Wulffraat… - Annals of the …, 2015 - ard.bmj.com
Familial Mediterranean fever (FMF) is a disease of early onset which can lead to significant
morbidity. In 2012, Single Hub and Access point for pediatric Rheumatology in Europe …

Familial mediterranean fever

H Ozdogan, S Ugurlu - La Presse Médicale, 2019 - Elsevier
Summary Familial Mediterranean Fever (FMF) is the oldest and the most frequent of all
described hereditary periodic fever syndromes. The populations originating from …

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

S Stojanov, DL Kastner - Current opinion in rheumatology, 2005 - journals.lww.com
Familial autoinflammatory diseases: genetics, pathogenesis a... : Current Opinion in
Rheumatology Familial autoinflammatory diseases: genetics, pathogenesis and treatment …

Familial mediterranean fever with a single MEFV mutation: Where is the second hit?

MG Booty, JJ Chae, SL Masters… - … : Official Journal of …, 2009 - Wiley Online Library
Abstract Objective Familial Mediterranean fever (FMF) has traditionally been considered an
autosomal‐recessive disease; however, it has been observed that a substantial number of …

[HTML][HTML] Familial Mediterranean fever—a review

M Shohat, GJ Halpern - Genetics in Medicine, 2011 - Elsevier
Familial Mediterranean fever is inherited in an autosomal recessive manner. There are two
phenotypes: types 1 and 2. Familial Mediterranean fever type 1 is characterized by recurrent …

NLR proteins: integral members of innate immunity and mediators of inflammatory diseases

JM Wilmanski, T Petnicki-Ocwieja… - Journal of Leucocyte …, 2008 - academic.oup.com
The innate immune system is the first line of defense against microorganisms and is
conserved in plants and animals. The nucleotide-binding domain, leucine rich containing …

The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever

R Gershoni‐Baruch, R Brik, N Zacks… - … : Official Journal of …, 2003 - Wiley Online Library
Objective The clinical profile in familial Mediterranean fever (FMF), including its major
manifestation, amyloidosis, is influenced by MEFV allelic heterogeneity and other genetic …

Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization

M Lidar, JM Scherrmann, Y Shinar, A Chetrit… - Seminars in arthritis and …, 2004 - Elsevier
OBJECTIVES: To identify the ethnic, clinical, genetic, and pharmacokinetic correlates of
colchicine treatment failure in patients with familial Mediterranean fever (FMF). METHODS …

Familial Mediterranean fever in Japan

K Migita, R Uehara, Y Nakamura, M Yasunami… - Medicine, 2012 - journals.lww.com
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is
prevalent in Mediterranean populations. While it is considered a rare disease in the rest of …