Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Efi Pandelia"'
Autor:
Konstantina Merou, Katherine Anagnostopoulou, Michael B. Petersen, Zeynep Tümer, Efi Pandelia, Yolanda Gyftodimou, Catherine Sarri, Haris Kontos, Sofia Douzgou, Elena Giouroukou, Katerina Papanikolaou, Gilbert B. Côté, Maria Grigoriadou, Haris Kokotas
Publikováno v:
Cytogenetic and Genome Research. 145:6-13
Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this ‘general ring syndrome' consists of growth failure with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ad97402ec40549b07dd3a3655ad579
https://doi.org/10.1159/000382046
https://doi.org/10.1159/000382046
Autor:
Helen Lord, Efi Pandelia, Louise J. Williams, Catherine Sarri, Michael B. Petersen, Euterpe Bazopoulou-Kyrkanidou, Charlotte Noakes, Yolanda Gyftodimou, Amalia Stefanidou, Andrew O.M. Wilkie, Konstantinos Varvagiannis, Tracy Lester
Publikováno v:
Varvagiannis, K, Stefanidou, A, Gyftodimou, Y, Lord, H, Williams, L, Sarri, C, Pandelia, E, Bazopoulou-Kyrkanidou, E, Noakes, C, Lester, T, Wilkie, A O M & Petersen, M B 2013, ' Pure de novo partial trisomy 6p in a girl with craniosynostosis ', American Journal of Medical Genetics. Part A, vol. 161A, no. 2, pp. 343-351 . https://doi.org/10.1002/ajmg.a.35727
Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2931d06c2ace87b9b201ce550e6ab030
http://ora.ox.ac.uk/objects/uuid:6afcfece-7d0b-4e07-afcc-dc99994f01eb
http://ora.ox.ac.uk/objects/uuid:6afcfece-7d0b-4e07-afcc-dc99994f01eb
Autor:
Michael B. Petersen, Yolanda Gyftodimou, Maria Grigoriadou, Haris Kokotas, Efi Pandelia, Catherine Sarri, Kristin Mrasek, S. Kalogirou, Anja Weise
Publikováno v:
Cytogenetic and genome research. 114(3-4)
We describe a female patient with a small supernumerary marker chromosome (sSMC) present in mosaic and characterized in detail by fluorescence in situ hybridization (FISH) using all 24 human whole chromosome painting probes, multicolor banding (MCB)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e39ae587158cdee29a0f332f5219db
https://pubmed.ncbi.nlm.nih.gov/16954675
https://pubmed.ncbi.nlm.nih.gov/16954675