Browsing by Subject "genetic screening"
Now showing items 1-11 of 11
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Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report
(2015)Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been ...
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COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis
(2015)
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The cypriot and Iranian National Mutation Frequency Databases.
(2006)The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
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Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology
(1997)The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were examined cytogenetically for gross chromosomal abnormalities, ...
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Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation
(2004)Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The ...
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DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
(2014)X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...
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Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing
(2006)Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...
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Modification of the enzyme mismatch cleavage method using T7 endonuclease I and silver staining
(2004)
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NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome
(2008)
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Screening for Familial Mediterranean Fever M694V and V726A mutations in the Greek population.
(2009)Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease that primarily affects populations surrounding the Mediterranean basin. FMF patients suffer from recurrent episodes of fever accompanied by ...
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Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches
(2009)SURVEYOR is a new mismatch-specific plant DNA endonuclease that is very efficient for mutation scanning in heteroduplex DNA. It is much faster, cheaper, more sensitive, and easier to perform than other "traditional" mutation ...