Zobrazeno 1 - 10
of 60
pro vyhledávání: '"array comparative genomic hybridization (array-cgh)"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 69-72 (2018)
The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;2
Externí odkaz:
https://doaj.org/article/232f79beb6a1406fbfc0f75b1589861c
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 199-204 (2015)
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray anal
Externí odkaz:
https://doaj.org/article/e8fd60b51f92434cb0ff81b180c59a3b
Akademický článek
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Autor:
Briançon, Ludivine
Publikováno v:
Gynécologie et obstétrique. 2020
Objectives: The aim of this study was to determine the prevalence of chromosomal abnormalities diagnosed by array comparative genomic hybridization (Array-CGH) in the context of nuchal translucency ≥ 3.5 mm with a normal karyotype. The development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2592::6e40f46f575b27d2b638a0f6fac5aa2b
https://dumas.ccsd.cnrs.fr/dumas-02985829/file/MS20_5_briancon_ludivine(1)(D)_version_diffusion.pdf
https://dumas.ccsd.cnrs.fr/dumas-02985829/file/MS20_5_briancon_ludivine(1)(D)_version_diffusion.pdf
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 69-72 (2018)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::381f2cc02204091092a5e07a64dcef1c
https://doaj.org/article/232f79beb6a1406fbfc0f75b1589861c
https://doaj.org/article/232f79beb6a1406fbfc0f75b1589861c
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46, XY, t(15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::716844e1518a90ce944d0608d70be975
http://dspace.trakya.edu.tr/xmlui/handle/trakya/4167
http://dspace.trakya.edu.tr/xmlui/handle/trakya/4167
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Nassim Matin, Caterina Ledda, Michele Vecchio, Raffaele Falsaperla, Giovanna Vitaliti, Piero Pavone, Riccardo Lubrano, Nazgol Motamed-Gorji
Publikováno v:
European Journal of Inflammation, Vol 14 (2016)
Array-comparative genomic hybridization (Array-CGH) has been proposed as the first efficient approach to scan the entire genome for variations in DNA copy number. This diagnostic method is based on the study of total genomic DNA isolated from any sam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6f99626b3717accc71819a7328d4a93
http://hdl.handle.net/11573/1074262
http://hdl.handle.net/11573/1074262
Autor:
Patrícia Paiva, Fabiana Ramos, Ana Jardim, Eunice Matoso, Joaquim Sá, Marta Pinto, Francisco Caramelo, Isabel M. Carreira, Nuno Lavoura, Jorge M. Saraiva, Luís Pires, Cláudia Pais, Margarida Venâncio, Joana B. Melo, Lúcia Simões, Ana Beleza, Lina Ramos, Alexandra Mascarenhas, José Ferrão, Susana Isabel Ferreira
Publikováno v:
Molecular Cytogenetics
Background Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d6d57b7a97a7f50ddd94b6f8112d9f0
https://doi.org/10.1186/s13039-015-0202-z
https://doi.org/10.1186/s13039-015-0202-z