2015
article
OpenAlex
Constantinos C. Deltas, Isavella Savva, Konstantinos Voskarides, Louiza Papazachariou et autres
Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the X-linked form of AS, which is caused by hemizygous mutations in the COL4A5 gene, …
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Accès ouvert
2014
article
OpenAlex
Louiza Papazachariou, Panayiota Demosthenous, Myrtani Pieri, Gregory Papagregoriou et autres
Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but …
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2014
article
OpenAlex
Konstantinos Voskarides, Despina Hadjipanagi, Louiza Papazachariou, Maura B. GRIFFIN et autres
Diseases such as atherosclerosis and coronary artery disease demonstrate disparate population prevalence or present with variable severity in men and women. While the usual explanation points to hormonal status, the role of the Y chromosome has been implicated, but not sufficiently studied. …
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Accès ouvert
2013
article
OpenAlex
Konstantinos Voskarides, Panayiota Demosthenous, Louiza Papazachariou, Maria Arsali et autres
Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes associated with CKD, may be associated with adverse progression …
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Accès ouvert
2012
book-chapter
OpenAlex
Constantinos C. Deltas, Konstantinos Voskarides, P Demosthenous, Louiza Papazachariou et autres
The Power of Molecular Genetics in Establishing the Diagnosis and Offering Prenatal Testing: The Case for Alport Syndrome
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