Zobrazeno 1 - 10
of 193
pro vyhledávání: '"genomic imbalances"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 25-34 (2021)
Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicr
Externí odkaz:
https://doaj.org/article/2cde02bb78454f4ea00edb220190160b
Publikováno v:
European Psychiatry, Vol 65, Pp S224-S224 (2022)
Introduction Background: Copy-number variants (CNVs) of chromosome 15 have been associated with neurodevelopmental disorders like autism spectrum disorders (ASDs) and developmental delay. Objectives We report 6 patients with autistic features and ot
Externí odkaz:
https://doaj.org/article/7b4ef7cb306b43b0b9ad3c7ca3861fe4
Autor:
Dominika Kuleszo, Beata Lipska-Ziętkiewicz, Magdalena Koczkowska, Krzysztof Zakrzewski, Wiesława Grajkowska, Marcin Roszkowski, Bożenna Dembowska-Bagińska, Katarzyna Czarnota, Elżbieta Adamkiewicz-Drożyńska, Ewa Iżycka-Świeszewska
Publikováno v:
Folia Neuropathologica, Vol 57, Iss 3, Pp 227-238 (2019)
Externí odkaz:
https://doaj.org/article/15e1cb781e0342b0ab4762d01c2e4db5
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-12 (2018)
Abstract Background Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromos
Externí odkaz:
https://doaj.org/article/2d1a73739d5e484ebaf0d9ee9d3e65b4
Akademický článek
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Autor:
Ibrahim Kalelioglu, Recep Has, Atıl Yüksel, Seher Başaran, Birsen Karaman, NB Satkin, Hülya Kayserili, S Ergin
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 25-34 (2021)
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 25-34 (2021)
Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507a9afefccb296048e0a96f99f32d61
http://europepmc.org/articles/PMC8009573
http://europepmc.org/articles/PMC8009573
Autor:
Ilya Kostolomov, Ben Davidson, Francesca Micci, Sverre Heim, Marta Brunetti, Ioannis Panagopoulos
Publikováno v:
Oncology Letters
Ovarian carcinomas and carcinosarcomas often cause malignant effusions, an accumulation within serous cavities of fluid containing cancer cells. Few studies have focused on the molecular alterations and genetic mechanisms behind effusion formation. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a787fdfc4e9d1748651319c8eefbe706
https://doi.org/10.3892/ol.2020.11782
https://doi.org/10.3892/ol.2020.11782
Autor:
Baumgartner, Adolf
In the past two decades comparative genomic hybridization (CGH) and array CGH have become crucial and indispensable tools in clinical diagnostics. Initially developed for the genome-wide screening of chromosomal imbalances in tumor cells, CGH as well
Externí odkaz:
http://hdl.handle.net/10454/10121
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 2, Pp 205-213 (2010)
This review summarizes the chromosomal changes detected by molecular cytogenetic approaches in esophageal squamous cell carcinoma (ESCC), the ninth most common malignancy in the world. Whole genome analyses of ESCC cell lines and tumors indicated tha
Externí odkaz:
https://doaj.org/article/dbc44dcce9c4486aae63d8af279245dc
Publikováno v:
Balkan Journal of Medical Genetics, Vol 11, Iss 1, Pp 33-40 (2008)
Externí odkaz:
https://doaj.org/article/0d75e05fb87b4443a581280047ae98a5