Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Andria Ketoni"'
Autor:
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1
Externí odkaz:
https://doaj.org/article/0a911331793b4b76a40738f99bf0e9cb
Autor:
Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. Case presentation
Externí odkaz:
https://doaj.org/article/326338fcc3124c6eb7a5923b803276f5
Autor:
Ariadni Mavrou, Marios Ioannides, Emanuel Kanavakis, Stavros Bashiardes, Aggeliki Kolialexi, Philippos C. Patsalis, Vassiliki Touliatou, Andria Ketoni, Carolina Sismani, Sofia Kitsiou-Tzeli
Publikováno v:
European journal of medical genetics. 50(1)
We report on a 13-year-old girl with normal karyotype and a de novo cryptic terminal deletion of chromosome 2q, detected by subtelomeric FISH analysis. Further investigation with array-CGH analysis using the 1Mb resolution Spectral Chip 2600 (Spectra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f6b3ef40f945d6b363fe88e2dd178f
https://pubmed.ncbi.nlm.nih.gov/17194633
https://pubmed.ncbi.nlm.nih.gov/17194633
Autor:
Carolina Sismani, Constantia Aristidou, Niels Tommerup, Andria Ketoni, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Aristidou, C, Theodosiou, A, Ketoni, A, Bak, M, Mehrjouy, M M, Tommerup, N & Sismani, C 2018, ' Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement ', Molecular Cytogenetics, vol. 11, 34 . https://doi.org/10.1186/s13039-018-0384-2
Molecular Cytogenetics
Aristidou, C, Theodosiou, A, Ketoni, A, Bak, M, Mehrjouy, M M, Tommerup, N & Sismani, C 2018, ' Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement ', Molecular Cytogenetics, vol. 11, 34 . https://doi.org/10.1186/s13039-018-0384-2
Molecular Cytogenetics
Background: Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. Case presentation: We pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d88dd5bddde80356cfe8c01921fa9e7