Zobrazeno 1 - 10
of 2 003
pro vyhledávání: '"array‐comparative genomic hybridization"'
Publikováno v:
Journal of Ovarian Research, Vol 17, Iss 1, Pp 1-12 (2024)
Abstract Background Teratomas are a common type of germ cell tumor. However, only a few reports on their genomic constitution have been published. The study of teratomas may provide a better understanding of their stepwise differentiation processes a
Externí odkaz:
https://doaj.org/article/db9173e32fe14decb59789c3858df9f9
Autor:
Marta Brunetti, Kristin Andersen, Signe Spetalen, Andrea Lenartova, Liv Toril Nygård Osnes, Helen Vålerhaugen, Sverre Heim, Francesca Micci
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionAlterations of the NUP214 gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/DEK::NUP214, or cryptic, in which case no vis
Externí odkaz:
https://doaj.org/article/6e54dab0855646e29369ccaf4222b21f
Publikováno v:
Reproduction and Fertility, Vol 4, Iss 2, Pp 1-11 (2023)
To evaluate the proportion of chromosomal abnormalities in recurrent pregnancy loss (RPL) assisted by array comparative genomic hybridization (aCGH) bright out with higher detection rate, more accuracy, and less sample failure as compared with conven
Externí odkaz:
https://doaj.org/article/a846f996ea944d3ea29c5d73f7f950ad
Publikováno v:
Saudi Journal for Health Sciences, Vol 12, Iss 2, Pp 157-160 (2023)
The estimated prevalence of intellectual disability (ID) is 10.37/1000 population. One of the major causes of ID is a chromosomal abnormality. SRY-related HMG-box 5 (SOX5) gene encodes a member of the SOX family of transcription factors, which may ac
Externí odkaz:
https://doaj.org/article/913c4560a7f24d3795edde91e3618ed7
Autor:
Francesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Roberto Sacco, Ignazio Stefano Piras, Laura Turriziani, Arianna Ricciardello, Maria Luisa Scattoni, Antonio M. Persico
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract Background Autism spectrum disorder (ASD) is characterized by high heritability estimates and recurrence rates; its genetic underpinnings are very heterogeneous and include variable combinations of common and rare variants. Array‐comparati
Externí odkaz:
https://doaj.org/article/0179a71ad8f24f04b221a0f378854198
Autor:
Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region
Externí odkaz:
https://doaj.org/article/54f067df6ad74a9ab42f6b45920435c6
Publikováno v:
Biomedical Journal, Vol 46, Iss 2, Pp 100524- (2023)
Background: The precise contribution of each chromosome gene or gene family in achieving male fertility is still the subject of debate. Most studies have examined male populations with heterogeneous causes of infertility, and have therefore reached c
Externí odkaz:
https://doaj.org/article/7a37b690fcfb402f8be193bbbd153905
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Genes, Vol 14, Iss 8, p 1519 (2023)
Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with developmental disabilities and congenital anomalies and is also routinely applied in prenatal diagnosis. The current consensus size cut-off for reporting copy num
Externí odkaz:
https://doaj.org/article/0328c288950348afa8dde69817af9fef
Autor:
Vasiliki Pisanidou, Panagiotis Apostolou, Georgios Beis, Eleana Hatzidaki, Ioannis Papasotiriou
Publikováno v:
Case Reports in Oncology, Vol 14, Iss 3, Pp 1682-1690 (2021)
Gastric cancer is one of the most common and deadly cancers worldwide. Screening tests as well as tools for prediction of treatment outcomes and prognosis have been developed, but they have many limitations. The integration of liquid biopsy provided
Externí odkaz:
https://doaj.org/article/54feab93207c448a8eacb96fe6cd7c54