Zobrazeno 1 - 10 of 62 pro vyhledávání: '"C. Pangalos"'
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Akademický článek
Fetuin A Concentration in the Second Trimester Amniotic Fluid of Fetuses with Trisomy 21 Appears to Be Lower: Phenotypic Considerations
Autor: S. Iliodromiti, N. Vrachnis, Evangelia Samoli, Z. Iliodromiti, C. Pangalos, N. Drakoulis, G. Creatsas, D. Botsis
Publikováno v: Mediators of Inflammation, Vol 2012 (2012)
Objective. We investigated whether the concentration of the glycoprotein fetuin A is altered in the second trimester amniotic fluid of trisomy 21 pregnancies compared with euploid pregnancies. Methods. 25 pregnancies with an extra chromosome 21 were
Externí odkaz: https://doaj.org/article/932269b118c7494eb2b0f7999badb127
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2
Resistin in mid-trimester amniotic fluid in trisomy 21
Autor: Georgios Creatsas, Nikolaos Drakoulis, Dimitrios Botsis, Stamatina Iliodromiti, C. Pangalos, E Samoli, Nikolaos Vrachnis, Zoi Iliodromiti, L Gkogkas, Charalampos Grigoriadis, Kalliopi I. Pappa
Publikováno v: The Journal of Maternal-Fetal & Neonatal Medicine. 26:1576-1580
The aim of this study was to examine whether resistin is present in second trimester amniotic fluid from trisomy 21 (also known as Down's syndrome) pregnancies and whether its concentration differs compared with euploid pregnancies.The study cohort c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a72946987c0a0148b1c9c07b477ae8eb
https://doi.org/10.3109/14767058.2013.789848
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3
Molecular analysis of transferrin receptor mRNA expression in acute myeloid leukaemia
Autor: Nora Viniou, D. Abazis, Marina Mantzourani, K. Zoi, Constance Tom Noguchi, Dimitris Loukopoulos, George Paterakis, Kostas Stamatopoulos, N. Stavroyianni, Xenophon Yataganas, C. Pangalos, Panagoula Kollia
Publikováno v: British Journal of Haematology. 115:19-24
Transferrin receptor (TfR, CD71) is an integral membrane glycoprotein that mediates cellular uptake of iron. In most tissues, TfR expression is correlated positively with proliferation and regulated at the post-transcriptional level. The available da
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1245c9c481b61bc6539d5088a2cc26cb
https://doi.org/10.1046/j.1365-2141.2001.03065.x
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4
Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unknown entity
Autor: C, Dacou-Voutetakis, E, Bazopoulou-Kyrkanidou, S, Kyrkanides, C, Pangalos, A, Apostolakis
Publikováno v: Genetic counseling (Geneva, Switzerland). 10(3)
A caucasian boy with distinct oriental-like facies, short stature, brachydactyly, congenital ventricular septal defect, glaucoma, and speech disorder is reported. Routine laboratory tests, karyotype, and hormonal profile (IGF 1, growth hormone during
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::16b2ed8e6b598f376cbca795880617b3
https://pubmed.ncbi.nlm.nih.gov/10546095
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5
Cytogenetic analysis and RAS mutations in primary myelodysplastic syndromes
Autor: Plata, E Viniou, N Abazis, D Konstantopoulos, K and Troungos, C Vaiopoulos, G Meletis, J Kittas, C Pangalos, C Yataganas, X
Cytogenetic analysis was performed in 60 patients with primary myelodysplastic syndromes-diagnosed, treated, and followed in our department. In 41 cases, the presence of the NRAS mutation was also evaluated. The aim of this study was to evaluate the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::698f680a9374046526509f0730b4b0e6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3051824
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7
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter
Autor: C, Sarri, J, Gyftodimou, D, Avramopoulos, M, Grigoriadou, W, Pedersen, E, Pandelia, C, Pangalos, D, Abazis, G, Kitsos, D, Vassilopoulos, K, Brøndum-Nielsen, M B, Petersen
Publikováno v: American journal of medical genetics. 70(1)
Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::075d64c41d873f3a13888df196535ba7
https://pubmed.ncbi.nlm.nih.gov/9129747
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8
The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis
Autor: C. Pangalos, Konstantinos Spengos, Masamichi Ito, Aubrey Milunsky, Thomas A. Maher, Sung Han Shim, Christopher Konialis
Publikováno v: Prenatal Diagnosis. 25:1057-1058
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868f3d520058c586618f024bdac518f7
https://doi.org/10.1002/pd.1302
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