Výsledky vyhledávání - "Hadjigavriel, Michalis"

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COL4A5 and LAMA5 variants co-inherited in familial hematuria: Digenic inheritance or genetic modifier effect?

Autor: Voskarides, Konstantinos, Papagregoriou, Gregory, Hadjipanagi, Despina, Petrou, Ioanelli, Savva, Isavella, Elia, Avraam, Athanasiou, Yiannis, Pastelli, Androulla, Kkolou, Maria, Hadjigavriel, Michalis, Stavrou, Christoforos, Pierides, Alkis, Deltas, Constantinos

Publikováno v: BMC Nephrology, Vol 19, Iss 1, Pp 1-8 (2018)
BMC Nephrology

Background: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8a041e5231c051a46f8b2a94748edc
https://hdl.handle.net/10576/12066

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Additional file 1: of COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Autor: Voskarides, Konstantinos, Papagregoriou, Gregory, Hadjipanagi, Despina, Ioanelli Petrou, Savva, Isavella, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Kkolou, Maria, Hadjigavriel, Michalis, Stavrou, Christoforos, Pierides, Alkis, Constantinos Deltas

WES statistics. Number of genetic variants called after the WES analysis. (DOCX 15 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5180278783d94eeaaf7f18f08eb79a8e

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Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing

Publikováno v: PLoS ONE
PLoS ONE, Vol 9, Iss 12, p e115015 (2014)

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 microscop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32984464412a53ae87b82ad46ecd525e
http://gnosis.library.ucy.ac.cy/handle/7/54780

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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure

Autor: Pierides, Alkis M., Voskarides, Konstantinos, Kkolou, Maria, Hadjigavriel, Michalis, Constantinou-Deltas, Constantinos D.

Publikováno v: Hippokratia

Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as splitting and lamellation of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4485::2a7323ea48e42a3e0245e4a28d5d02c6
http://gnosis.library.ucy.ac.cy/handle/7/53310

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X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5

Autor: Demosthenous, Panayiota, Voskarides, Konstantinos, Stylianou, Konstantinos G., Hadjigavriel, Michalis, Arsali, Maria, Patsias, Charalambos, Georgaki, Eleni, Zirogiannis, P., Stavrou, Christoforos V., Daphnis, Eugenios K., Pierides, Alkis M., Constantinou-Deltas, Constantinos D.

Publikováno v: Clinical genetics
Clin.Genet.

The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension and chronic or end-stage renal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625ea8b36141ff1a3dc2a226b929d54f
http://gnosis.library.ucy.ac.cy/handle/7/53052

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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

Autor: Koptides, Michael, Constantinides, Rolandos, Kyriakides, George K., Hadjigavriel, Michalis, Patsalis, Philippos C., Pierides, Alkis M., Constantinou-Deltas, Constantinos D.

Publikováno v: Human genetics
Hum.Genet.

Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor genes in various cancers and also with hyper-proliferative disorders, altho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e977c6c1e36634997c80b7fb04104bdc
https://pubmed.ncbi.nlm.nih.gov/9921908

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Akademický článek

Iron deposits in the knee joints of a thalassemic patient.

Autor: Economides, Charalambos P., Soteriades, Elpidoforos S., Hadjigavriel, Michalis, Seimenis, Ioannis, Karantanas, Apostolos

Publikováno v: Acta Radiologica Short Reports; Feb2013, Vol. 2 Issue 1, p1-5, 5p

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