Genotype–phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis
…, N Cakar, M Mısırlıoğlu, N Tümer, N Akar… - …, 2000 - academic.oup.com
Objectives. Differences in clinical manifestations of familial Mediterranean fever (FMF) between
different ethnic groups have been documented. The FMF gene was recently cloned and …
different ethnic groups have been documented. The FMF gene was recently cloned and …
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
…, K Rohde, HU Schulz, C Le Maréchal, N Akar… - Nature …, 2006 - nature.com
… band corresponding to the N-terminal proteolytic fragment of … smaller fragment corresponding
to the N-terminal fragment of … molecular masses corresponding to the N-terminal peptide 16…
to the N-terminal fragment of … molecular masses corresponding to the N-terminal peptide 16…
Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase …
Genetic and environmental factors interact in determining the risk of venous thromboembolism
(VTE). The risk associated with the polymorphic variants G1691A of factor V (Factor V …
(VTE). The risk associated with the polymorphic variants G1691A of factor V (Factor V …
[HTML][HTML] Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa
We explored the phylogeography of human Y-chromosomal haplogroup E3b by analyzing
3,401 individuals from five continents. Our data refine the phylogeny of the entire haplogroup, …
3,401 individuals from five continents. Our data refine the phylogeny of the entire haplogroup, …
MEFV mutations in Turkish patients suffering from familial Mediterranean fever
Familial Mediterranean fever (FMF) is a recessive inherited disorder affecting Sephardic
Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and …
Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and …
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
…, M Devoto, S Ozsoylu, N Kocak, N Akar… - American journal of …, 1995 - ncbi.nlm.nih.gov
We analyzed mutations and defined the chromosomal haplotype in 127 patients of
Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 …
Mediterranean descent who were affected by Wilson disease (WD), 39 Sardinians, 49 Italians, 33 …
Investigation of characterization and biofouling properties of PES membrane containing selenium and copper nanoparticles
… ligand hydrazine carboxylic acid, N 2 H 3 –COOH, was prepared by saturating N 2 H 4 ·… N
2 H 3 COOH to a saturated solution containing Cu 2+ ions facilitates the precipitation of Cu–(N …
2 H 3 COOH to a saturated solution containing Cu 2+ ions facilitates the precipitation of Cu–(N …
Risk analysis of geothermal power plants using Failure Modes and Effects Analysis (FMEA) technique
Renewable energy plays a key role in the transition toward a low carbon economy and the
provision of a secure supply of energy. Geothermal energy is a versatile source as a form of …
provision of a secure supply of energy. Geothermal energy is a versatile source as a form of …
Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe
… Indeed, three local samples at the western (Yaroslav, n=39), northern (Republic of Udmurtia,
n=40), and eastern (Republic of Bashkiria, n=39) edges of our sampling area show null …
n=40), and eastern (Republic of Bashkiria, n=39) edges of our sampling area show null …
Frequency of factor V (1691 G→ A) mutation in Turkish population
Dear Sir, A mutation in the Factor V gene (1691G-+ A in exon 10) was identified that formed
the molecular explanation for the phenotype of APC-resistance in the large majority of …
the molecular explanation for the phenotype of APC-resistance in the large majority of …