Read more about the article Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.
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Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.

Abstract

Continue ReadingMultiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.
Read more about the article Vestibular symptoms and signs are correlated with abnormal neurogenic vestibular evoked potentials in patients with multiple sclerosis.
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Vestibular symptoms and signs are correlated with abnormal neurogenic vestibular evoked potentials in patients with multiple sclerosis.

Abstract Symptoms of disequilibrium in multiple sclerosis (MS) are common. Neurogenic vestibular evoked potentials (NVsEPs) are saccular responses to tone-pip acoustic stimuli and are recordable from the parietal areas ipsilaterally…

Continue ReadingVestibular symptoms and signs are correlated with abnormal neurogenic vestibular evoked potentials in patients with multiple sclerosis.
Read more about the article Potential therapy paradigms for Marfan syndrome.
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Potential therapy paradigms for Marfan syndrome.

Abstract Marfan syndrome is the most common genetic disorder of the connective tissue with an estimated prevalence of 1:10,000. The disease is characterised by manifestations in the cardiovascular, skeletal and…

Continue ReadingPotential therapy paradigms for Marfan syndrome.
Read more about the article The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
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The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Abstract GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to…

Continue ReadingThe Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Read more about the article Gathered Mediterranean food plants–ethnobotanical investigations and historical development.
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Gathered Mediterranean food plants–ethnobotanical investigations and historical development.

Abstract The diversity of local Mediterranean food elements is not known in detail, but offers itself to search for new vegetables, salads, fruits and spices which could be used in…

Continue ReadingGathered Mediterranean food plants–ethnobotanical investigations and historical development.
Read more about the article Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.
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Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

Abstract To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2)…

Continue ReadingArrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.
Read more about the article Molecular genetics of X-linked Charcot-Marie-Tooth disease.
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Molecular genetics of X-linked Charcot-Marie-Tooth disease.

Abstract The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common molecularly designated form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive distal…

Continue ReadingMolecular genetics of X-linked Charcot-Marie-Tooth disease.
Read more about the article Possible therapy of male infertility by reproductive cloning: one cloned human 4-cell embryo.
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Possible therapy of male infertility by reproductive cloning: one cloned human 4-cell embryo.

Abstract This study was conducted to evaluate the preimplantation embryonic potential of adult somatic cells from an infertile man using an interspecies bioassay for quality control and also to create…

Continue ReadingPossible therapy of male infertility by reproductive cloning: one cloned human 4-cell embryo.
Read more about the article Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.
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Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.

Abstract Mutations in the GJB2 (connexin-26) gene are responsible for more than half of all cases of prelingual recessive inherited non-syndromic deafness in Europe. One specific mutation 35delG, accounts for…

Continue ReadingDetermination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.