35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

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

De novo inverted interstitial duplication 8q22.1‐q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features

Autor: Catherine Sarri, Michael B. Petersen, Haris Kokotas, Katerina Papanikolaou, John Tsiantis, Yolanda Gyftodimou, Gerasimos Kolaitis, Elena Paliokosta

Publikováno v: Advances in Mental Health and Learning Disabilities. 3:48-52

We describe a 13 1/2‐year‐old boy with de novo inverted interstitial duplication 8q22.1‐q21.1 associated with mild phenotypic abnormalities, learning disabilities and autism. Psychometric and psychiatric evaluation was performed. Clinical genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::030035a13e2fca8defb6ee8fc17d62df
https://doi.org/10.1108/17530180200900021

Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy

Autor: Effie Pandelia, Catherine Sarri, Jolanda Gyftodimou, Hara Laskari, Michael B. Petersen, Syed K Rafi, Maria Grigoriadou, Mazin B. Qumsiyeh

Publikováno v: American Journal of Medical Genetics. :356-359

We report two unrelated patients each with two supernumerary marker chromosomes (SMCs) derived from chromosome 15, and thus resulting in partial hexasomy. Hexasomy in the one case (family 1) was diagnosed at prenatal diagnosis and did not include the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986e03aaceab8ba1804b36b667012439
https://doi.org/10.1002/ajmg.a.10050

Pure de novo partial trisomy 6p in a girl with craniosynostosis

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

Sister-chromatid exchange in highly purified human CD4+ and CD8+ lymphocytes

Autor: Gilbert B. Côté, Maria Grigoriadou, Constantin N. Baxevanis, Michael Papamichail, George J. Reclos, Theodor Spanos, Marilena Papanastasiou, Emi Sarafidou, Catherine Sarri

Publikováno v: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 270:125-133

Sister-chromatid exchange (SCE) frequencies were determined in human peripheral blood CD4+ and CD8+ T lymphocyte subpopulations which were rapidly and highly purified from pooled T lymphocytes by immunological methods. The purified lymphocytes were s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e574e9ba312999a3bc3a1c3eddddb4a2
https://doi.org/10.1016/0027-5107(92)90123-j