Zobrazeno 1 - 10
of 2 014
pro vyhledávání: '"array‐comparative genomic hybridization"'
Autor:
Paola Granata, Alessandra Zito, Dario Cocciadiferro, Antonio Novelli, Chiara Pessina, Tommaso Mazza, Matteo Ferri, Paolo Piccinelli, Chiara Luoni, Cristiano Termine, Mauro Fasano, Rosario Casalone
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)
Abstract Background Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study aimed to investigate the ge
Externí odkaz:
https://doaj.org/article/872fb87bc0864d7fb98d4d1990882c75
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, Gunhild Trøen, Francesca Micci, Signe Spetalen, Andrea Lenartova, Maren Randi Tandsæther, Ioannis Panagopoulos
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
Background/AimIsodicentric [idic(X)(q13)] and isochromosome [i(X)(q10)] are infrequent aberrations in neoplastic diseases. The former is mainly reported in elderly women with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), whereas th
Externí odkaz:
https://doaj.org/article/654442723fcb4fe689edeb6938f11209
Autor:
Anna Wójtowicz, Katarzyna Kowalczyk, Katarzyna Szewczyk, Anna Madetko-Talowska, Wojciech Wójtowicz, Hubert Huras, Mirosław Bik-Multanowski, Nowakowska Beata
Publikováno v:
Diagnostics, Vol 14, Iss 19, p 2186 (2024)
Introduction: Invasive prenatal testing with chromosomal microarray analysis after first-trimester screening is a relevant option but there is still debate regarding the indications. Therefore, we evaluated the prevalence of numerical chromosomal abe
Externí odkaz:
https://doaj.org/article/0dab6eb219214769a9b48c0549ccdde4
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:
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
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
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