scholarly journals Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.

1997 ◽  
Vol 34 (7) ◽  
pp. 573-578 ◽  
Author(s):  
A N Akarsu ◽  
U Saatci ◽  
S Ozen ◽  
A Bakkaloglu ◽  
N Besbas ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Genetic Heterogeneity ◽  
Genetic Linkage ◽  
Turkish Population ◽  
Linkage Study ◽  
Genetic Linkage Study ◽  
Mediterranean Fever

Genetic Linkage Study of Juvenile Polyposis: Preliminary Analysis

1990 ◽  
pp. 431-432
Author(s):  
Gloria M. Petersen ◽  
Jane Brown ◽  
Xiangdong Bu ◽  
Robert S. Sparkes ◽  
Yusuke Nakamura
Keyword(s):  
Preliminary Analysis ◽  
Genetic Linkage ◽  
Linkage Study ◽  
Juvenile Polyposis ◽  
Genetic Linkage Study

scholarly journals Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

2018 ◽  
Vol 20 (12) ◽  
pp. 1583-1588 ◽  
Author(s):  
Gernot Kriegshäuser ◽  
Dietmar Enko ◽  
Hasmik Hayrapetyan ◽  
Stepan Atoyan ◽  
Christian Oberkanins ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Genetic Heterogeneity ◽  
Late Onset ◽  
Large Cohort ◽  
Mediterranean Fever

Chromosome 17 markers and von Recklinghausen neurofibromatosis: A genetic linkage study in a British population

Genomics ◽  
1987 ◽  
Vol 1 (4) ◽  
pp. 358-360 ◽  
Author(s):  
Meena Upadhyaya ◽  
Mansoor Sarfarazi ◽  
Susan M. Huson ◽  
Karen Stephens ◽  
Wendy Broadhead ◽  
...  
Keyword(s):  
Genetic Linkage ◽  
Linkage Study ◽  
Chromosome 17 ◽  
Genetic Linkage Study ◽  
Von Recklinghausen

Genetic linkage study of bipolar disorder and the serotonin transporter

1996 ◽  
Vol 67 (2) ◽  
pp. 215-217 ◽  
Author(s):  
John R. Kelsoe ◽  
Ronald A. Remick ◽  
A. Dessa Sadovnick ◽  
Helgi Kristbjarnarson ◽  
Pamela Flodman ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Serotonin Transporter ◽  
Genetic Linkage ◽  
Linkage Study ◽  
Genetic Linkage Study

scholarly journals A genetic linkage study of a family with Norrie's disease

Eye ◽  
1988 ◽  
Vol 2 (4) ◽  
pp. 443-447 ◽  
Author(s):  
L Esakowitz ◽  
C Clark ◽  
N Haites ◽  
K Kelly ◽  
A W Johnston
Keyword(s):  
Genetic Linkage ◽  
Linkage Study ◽  
Genetic Linkage Study

scholarly journals A genetic linkage study of facioscapulohumeral (Landouzy-Dejerine) disease with 24 polymorphic DNA probes.

1989 ◽  
Vol 26 (8) ◽  
pp. 490-493 ◽  
Author(s):  
M Upadhyaya ◽  
M Sarfarazi ◽  
P W Lunt ◽  
W Broadhead ◽  
P S Harper
Keyword(s):  
Genetic Linkage ◽  
Linkage Study ◽  
Dna Probes ◽  
Genetic Linkage Study

A genetic linkage study of choroideremia

1988 ◽  
Vol 32 (6) ◽  
pp. 435-436
Author(s):  
J. Bronwyn Bateman
Keyword(s):  
Genetic Linkage ◽  
Linkage Study ◽  
Genetic Linkage Study

scholarly journals Mutation screening of familial Mediterranean fever in the Azeri Turkish population: Genotype-phenotype correlation and the clinical profile variability

Genetika ◽  
2014 ◽  
Vol 46 (2) ◽  
pp. 611-620
Author(s):  
Jalal Gharesouran ◽  
Maryam Rezazadeh ◽  
Morteza Ghojazadeh ◽  
Mohaddes Ardabili
Keyword(s):  
Renal Failure ◽  
Familial Mediterranean Fever ◽  
Clinical Symptoms ◽  
Phenotypic Variability ◽  
Mutation Screening ◽  
Turkish Population ◽  
Coding Region ◽  
Frequent Mutations ◽  
Mediterranean Fever ◽  
Frequency Changes

Familial Mediterranean fever is known as a most frequent hereditary autoin-Xammatory among the autoinflammatory syndromes characterized by fever, arthritis and serosal inflammation. Clinically, the foremost severe symptom of the disease is amyloidosis, which may cause to renal failure. MEFV renal failure consists of ten exons and conservative mutations clustered in exon ten (M694V, V726A, M680I, M694I) and exon two (E148Q) are considered more common mutations within this coding region and that they are detected with a distinct frequency changes in line with ethnicity. The aim of this study was to research the spectrum of mutations in Azeri Turkish population. We evaluated the molecular test results of 82 patients and their parents from eighty families identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Genetics. Patients were referred by their physicians for MEFV mutation detection. The most frequent mutations were M694V respectively followed by M680I (G/C), V726A, M694I and E148Q mutations. A phenotypic variability was also ascertained between patients with different mutations and it must be considered within the daily management of FMF patients.

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