Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Elisavet Siomou"'
Autor:
Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou, Loretta Thomaidis, Emmanouil Manolakos
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number o
Externí odkaz:
https://doaj.org/article/2b764558f7554b08bd76331775760567
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Baraitser - Winter Cerebrofrontofacial Syndrome (BWCFF) is a rare disorder characterized by facial dysmorphism and mental retardation of varying grades. The clinical phenotype of BWCFF indicates variable phenotypic expression involving various congen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::93d9d8e4d251851caa8b7d5dbaf2f6f9
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3031412
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3031412
Autor:
Elisavet Siomou, Dionysios Vrachnis, Nikolaos Loukas, Ioannis Papoulidis, Nikolaos Vrachnis, Efterpi Pavlidou, Emmanouil Manolakos, Nikolaos Antonakopoulos, D Zygouris, Loretta Thomaidis, Zoi Iliodromiti, Stavroula Oikonomou
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Background The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number of ways. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17c59632883003c0ead245ad569a819
https://pubmed.ncbi.nlm.nih.gov/34303382
https://pubmed.ncbi.nlm.nih.gov/34303382
Autor:
Maria Alexiou, Elisavet Siomou, Apostolos Athanasiadis, Emmanouil Manolakos, Makarios Eleftheriades, Elena Papageorgiou, Alexandros Sotiriadis, Vasilios Papadopoulos, Ioannis Papoulidis
Publikováno v:
Prenatal Diagnosis. 37:583-592
Objective To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). Methods This is a comparative study using data from 2779 fetuses, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::173c152e2a0b660a9e6117bc4d352ecc
https://doi.org/10.1002/pd.5051
https://doi.org/10.1002/pd.5051
Autor:
Petros Nikolaidis, Sandro Orru, Evaggelos Papanikolaou, Sotirios Sotiriou, Elisavet Siomou, Loretta Thomaidis, Emmanouil Manolakos, Ioannis Papoulidis, Makarios Eleftheriades, Dimitrios T Papadimitriou
In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4387eedc67dfe273096edd565644a425
https://europepmc.org/articles/PMC6566442/
https://europepmc.org/articles/PMC6566442/
Autor:
Apostolos Athanasiadis, Emmanouil Manolakos, Sandro Orru, Ioannis Papoulidis, Elisavet Siomou, Makarios Eleftheriades, Vasilios Papadopoulos, Alexandros Sotiriadis, Eirini Oikonomidou, Elena Papageorgiou
Publikováno v:
Prenatal Diagnosis. 35:1269-1277
Objective This study aims to evaluate the diagnostic yield of comparative genomic hybridization microarrays (aCGH) and compare it with conventional karyotype analysis of standard >5-Mb resolution. Method A total of 1763 prenatal samples were analyzed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44c916d70cc1c0c435443cedba25c202
https://doi.org/10.1002/pd.4685
https://doi.org/10.1002/pd.4685
Autor:
Alexandros, Sotiriadis, Ioannis, Papoulidis, Elisavet, Siomou, Elena, Papageorgiou, Makarios, Eleftheriades, Vasilios, Papadopoulos, Maria, Alexiou, Emmanouil, Manolakos, Apostolos, Athanasiadis
Publikováno v:
Prenatal diagnosis. 37(6)
To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS).This is a comparative study using data from 2779 fetuses, which underwent invasiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d855ab7692a6a7130060fd4da87217dc
https://pubmed.ncbi.nlm.nih.gov/28406537
https://pubmed.ncbi.nlm.nih.gov/28406537
Autor:
Ahmed Al-Rikabi, Themistoklis Dagklis, Emmanouil Manolakos, Andreas Pampanos, Georgios Papaioannou, Elisavet Siomou, Maria Kontodiou, Ioannis Papoulidis, Vassilis Paspaliaris
Publikováno v:
OBM Genetics. 2:1-1
Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f139e4b9f791808fed75a8c6206b0053
https://doi.org/10.21926/obm.genet.1803035
https://doi.org/10.21926/obm.genet.1803035
Autor:
Loretta Thomaidis, Petros Nikolaidis, Elisavet Siomou, Emmanouil Manolakos, Stavros Sifakis, Sotirios Sotiriou, Ioannis Papoulidis, R Murru, Vassilis Paspaliaris, Sandro Orru, Antonios Garas
Publikováno v:
Molecular Cytogenetics
Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The exact region of the deletion wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4e00d64a04b36e2f477d5b2a1ee1a5
https://doi.org/10.1186/s13039-015-0175-y
https://doi.org/10.1186/s13039-015-0175-y