George L. Koumbaris
Affiliations: | 2001-2002 | Biological Science | Florida State University, Tallahassee, FL, United States |
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"George Koumbaris"Parents
Sign in to add mentor| Hank W. Bass | grad student | 2001-2002 | Florida State | |
| (Development of a new cytogenetic mapping strategy for maize (Zea mays L.)) | ||||
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Publications
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| Koumbaris G, Achilleos A, Nicolaou M, et al. (2019) Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases. Molecular Cytogenetics. 12: 48 |
| Neofytou MC, Tsangaras K, Kypri E, et al. (2017) Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications. Plos One. 12: e0171319 |
| Evangelidou P, Alexandrou A, Moutafi M, et al. (2013) Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature. Biomed Research International. 2013: 346762 |
| Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, et al. (2012) A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability? European Journal of Medical Genetics. 55: 274-7 |
| Sismani C, Anastasiadou V, Kousoulidou L, et al. (2011) 9Â Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features. European Journal of Medical Genetics. 54: e510-5 |
| Grigori P, Panayiotou E, Sismani C, et al. (2011) 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. European Journal of Medical Genetics. 54: 365-8 |
| Evangelidou P, Sismani C, Ioannides M, et al. (2010) Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Molecular Cytogenetics. 3: 24 |
| Kitsiou-Tzeli S, Sismani C, Koumbaris G, et al. (2007) Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH. European Journal of Medical Genetics. 51: 61-7 |
| Patsalis PC, Skordis N, Sismani C, et al. (2005) Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. American Journal of Medical Genetics. Part A. 135: 145-9 |