Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Microarray-CGH"'
Publikováno v:
Clinical Case Reports
Key Clinical Message We present the case of a 30‐year‐old woman with a history of perinatal complications as well as bladder and urinary disease through her childhood and adult life. Microarray comparative genomic hybridization (aCGH) analysis re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6325d6f401245f5ce8705df43277abbc
https://doi.org/10.1002/ccr3.1746
https://doi.org/10.1002/ccr3.1746
Autor:
Jonathan Craft, Courtney Daniels, Krystal Brown, Ryan Bernhisel, John Kidd, Debora Mancini-DiNardo, Benjamin B. Roa, Brian Morris, Kirsten Meek, Thaddeus Judkins, Jayson Holladay
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
Background Healthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While sequence variant detection is ty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29f96da6aa3e9ebc60e96de319d6e4f1
https://pubmed.ncbi.nlm.nih.gov/31623605
https://pubmed.ncbi.nlm.nih.gov/31623605
Autor:
Toyoichiro Kudo, Yutaka Negishi, Takeshi Endo, Shinji Saitoh, Tokio Sugiura, Koichi Ito, Takao Togawa, Kohei Aoyama, Kei Ohashi, Reiko Ito
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 106(11)
Aim We evaluated combined genetic analyses with targeted next-generation sequencing (NGS), multiplex ligation probe amplification (MLPA) of Jagged1 (JAG1) genes and microarray comparative genomic hybridisation (CGH) in subjects with Alagille syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826eae8d673b477300c9df1c9532c465
https://pubmed.ncbi.nlm.nih.gov/28695677
https://pubmed.ncbi.nlm.nih.gov/28695677
Akademický článek
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Publikováno v:
Biostatistics. 6:45-58
Array CGH is a powerful technique for genomic studies of cancer. It enables one to carry out genome-wide screening for regions of genetic alterations, such as chromosome gains and losses, or localized amplifications and deletions. In this paper, we p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::493a9b9e5e971f5a79b32c8e446d17dd
https://doi.org/10.1093/biostatistics/kxh017
https://doi.org/10.1093/biostatistics/kxh017
Publikováno v:
American Journal of Medical Genetics. :314-317
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7227fdff74f893544f4696a9fa46b6a0
https://doi.org/10.1002/ajmg.a.30262
https://doi.org/10.1002/ajmg.a.30262
Publikováno v:
Journal of Biotechnology. 256:S79
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea8993ff44145e03fb5c5d9f2c5b0f92
https://doi.org/10.1016/j.jbiotec.2017.06.1070
https://doi.org/10.1016/j.jbiotec.2017.06.1070
Autor:
Ingrid Tremel Barbato, Angelica Francesca Maris, Jorge H. Barbato Filho, Gisele R. de Luca, Maristela Ocampos, Tiago Fernando Chaves
Publikováno v:
Cancer Genetics. :48
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7e0199a45f65e21350dfe4c6ad355be
https://doi.org/10.1016/j.cancergen.2017.04.053
https://doi.org/10.1016/j.cancergen.2017.04.053
Autor:
Jeremy Price
Publikováno v:
Handbook of Breast MRI. :xi-xiii
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac5e23ac680d42b8bbf032e0de37a7ba
https://doi.org/10.1017/cbo9781139084833.002
https://doi.org/10.1017/cbo9781139084833.002
Akademický článek
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