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Familial Mediterranean Fever (FMF) which is frequently present in Mediterranean populations is caused by mutations in the MEFV gene. According to recent data, MEFV mutations are not the only cause of FMF, but these are major genetic determinants which cause FMF. It has also been suggested that there may be a number of other genes causing FMF. The MEFV gene(More)
Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related(More)
In this study we aimed to evaluate the postnatally screened karyotype results in couples who were referred because of primary infertility between 2000 and 2006 in Izmir. The records of a total of 179 cases were evaluated retrospectively. A total of 21 cases (11.74%) showed chromosomal alteration. Thirteen (7.26%) were 47,XXY; three (1.68%) were pericentric(More)
Ring chromosome 20 (r[20]) syndrome is characterized by mild to moderate learning disability*, behavioural disorders, epilepsy, and various dysmorphic features. Although still considered rare, r (20) syndrome is being increasingly diagnosed. More than 30 cases have been described in the literature since 1976. Here we report an additional case of a(More)
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Recently a rare, novel form of PCH has been reported called cerebellar atrophy with progressive microcephaly (CLAM). Here we report a second family of CLAM with additional phenotypic features and novel molecular findings.(More)
Concerns about the health effects of radiofrequency (RF) waves have been raised because of the gradual increase in usage of cell phones, and there are scientific questions and debates about the safety of those instruments in daily life. The aim of this study is to evaluate the genotoxic effects of RF waves in an experimental brain cell culture model. Brain(More)
Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS)(More)
Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that often included brain malformations. Rare variant(More)
Progressive pseudorheumatoid arthropathy of childhood (PPAC) described by Spranger et al is a rare autosomal recessive disorder. An 11 year-old girl was diagnosed as having PPAC at Ege University, Faculty of Medicine, Department of Paediatrics. Her complaints of painful joints, difficulty in walking and joint contractures began at the age of 3 years and she(More)
Proteoglycan (PG) synthesis begins with the sequential addition of a “linker chain”, made up of four sugar residues, to a specific region of a core protein. Defects in the enzymes catalyzing steps two to four of the linker chain synthesis have been shown to cause autosomal recessive human phenotypes while no mutation has yet been reported in humans for the(More)