Read more about the article Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
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Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Abstract The purpose of this study was to identify and determine the frequencies of rare CYP21A2 gene mutations in patients with 21-hydroxylase deficiency (21-OHD) in the Cypriot population. Direct sequencing…

Continue ReadingRare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
Read more about the article Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
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Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.

Abstract Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin…

Continue ReadingComplement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
Read more about the article A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
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A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

Abstract Mutations in IFNGR1, IFNGR2, IL12RB1, IL12B, STAT1 and NEMO result in a common clinical phenotype known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency is…

Continue ReadingA 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Read more about the article Quantitative proteomic profiling of matched normal and tumor breast tissues.
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Quantitative proteomic profiling of matched normal and tumor breast tissues.

Abstract Proteomic analysis of breast cancer tissue has proven difficult due to its inherent histological complexity. This pilot study presents preliminary evidence for the ability to differentiate adenoma and invasive…

Continue ReadingQuantitative proteomic profiling of matched normal and tumor breast tissues.
Read more about the article Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.
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Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.

Abstract Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, with epileptic seizures sometimes observed in the same patients. In this study, we used evoked responses…

Continue ReadingBrainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.
Read more about the article Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
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Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Abstract Ethylmalonic encephalopathy (EE, OMIM # 602473) is an autosomal recessive metabolic disorder of infancy affecting the brain, the gastrointestinal tract and peripheral vessels. It is caused by a defect…

Continue ReadingEthylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
Read more about the article The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
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The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Abstract 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphrodism caused by decreased…

Continue ReadingThe IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
Read more about the article EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
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EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.

Abstract To provide evidence-based guidelines to general neurologists for the assessment of patients with pauci- or asymptomatic hyperCKemia. Recent epidemiologic studies show that up to 20% of 'normal' individuals have…

Continue ReadingEFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Read more about the article Cystic diseases of the kidney: molecular biology and genetics.
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Cystic diseases of the kidney: molecular biology and genetics.

Abstract Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing X-linked, autosomal dominant, and autosomal recessive inheritance.…

Continue ReadingCystic diseases of the kidney: molecular biology and genetics.
Read more about the article Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
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Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.

Abstract Plasma soluble leptin receptor (sOB-R) levels were inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor, which…

Continue ReadingGenome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.