Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Helen Frysira"'
Autor:
Alexis Alexopoulos, Lambrini Nasi, Efthymia Tsina, Konstantina Kosma, Ioannis Nikas, Panagiotis Ν Krallis, Roser Pons, Helen Frysira, Antonis Kattamis, Maria Tzetis, Eleftheria Kokkinou, Evanthia A. Makrygianni, Kleoniki Roka, Eirini Tsoutsou, Ioanna Thanopoulou, Maria Tsipi
Publikováno v:
Postgraduate medicine. 131(7)
Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care.Subjects and Methods: Retrospective analysis of a cohort of 157 pa...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d94cf850c42bf71ed85477eba5a244
https://pubmed.ncbi.nlm.nih.gov/31443616
https://pubmed.ncbi.nlm.nih.gov/31443616
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
Autor:
Christina Kanaka-Gantenbein, Loretta Thomaidis, Artemis Doulgeraki, George P. Chrousos, Helen Frysira, Jessica Arditi
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 30
Background Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of appr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f58a5033c14465d9f93b1302a6d4f87
https://doi.org/10.1515/jpem-2016-0362
https://doi.org/10.1515/jpem-2016-0362
Publikováno v:
Expert Review of Molecular Diagnostics. 12:449-457
Clinical characteristics of patients are not always related to specific syndromes. Array-comparative genomic hybridization (aCGH) is used to detect submicroscopic copy number variants within the genome not visible by conventional karyotyping. The cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917501647ea6eb229482f82e8db0e713
https://doi.org/10.1586/erm.12.40
https://doi.org/10.1586/erm.12.40
Autor:
Helen Frysira, Eleni Leze, Georgia Kakourou, Areti Syrmou, Konstantina Kosma, Emmanuel Kanavakis, Sophia Kitsiou-Tzeli, Krinio Giannikou, Maria Tzetis, Christalena Sofocleous
Publikováno v:
Gene. 492(1)
The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH). Molecular analysis of the 17q21.31 microdeletion/duplication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe5be5ac1f59cfe12e43cf3325221b6
https://pubmed.ncbi.nlm.nih.gov/22037486
https://pubmed.ncbi.nlm.nih.gov/22037486
Autor:
Nikolaos Vogiatzakis, Ariadni Mavrou, Helen Frysira, George N. Goulielmos, Sofia Kitsiou, E. Kanavakis, Evmorfia Tzagaraki, Christalena Sofocleous
Publikováno v:
Annals of General Psychiatry, Vol 7, Iss Suppl 1, p S333 (2008)
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by mental retardation, absence of speech, ataxia, seizures and hyperactivity. Individuals with AS lack a normal active maternal copy of the UBE3A gene, encoding u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d359368f68e7ca7e2526b9bc9678dc2
https://doi.org/10.1186/1744-859x-7-s1-s333
https://doi.org/10.1186/1744-859x-7-s1-s333