Results 11 to 20 of about 67,701 (309)

Multiplex ligation-dependent probe amplification – a short overview

Romanian Journal of Laboratory Medicine, 2020
Multiplex Ligation-dependent Probe Amplification is a technique proposed for the detection of deletions or duplications that may lead to copy number variations in genomic DNA, mainly due to its higher resolution, and shorter overall diagnosis time, when ...
Moldovan Valeriu, Moldovan Elena
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Multiple genome analysis of Candida glabrata clinical isolates renders new insights into genetic diversity and drug resistance determinants

Microbial Cell, 2022
The emergence of drug resistance significantly hampers the treatment of human infections, including those caused by fungal pathogens such as Candida species.
Pedro Pais, Mónica Galocha, Azusa Takahashi-Nakaguchi, Hiroji Chibana, Miguel C. Teixeira   +4 more
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CNVs in Epilepsy [PDF]

Current Genetic Medicine Reports, 2014
Copy number variants (CNVs) are deletions or duplications of DNA. CNVs have been increasingly recognized as an important source of both normal genetic variation and pathogenic mutation. Technologies for genome-wide discovery of CNVs facilitate studies of large cohorts of patients and controls to identify CNVs that cause increased risk for disease. Over
openaire   +2 more sources

Identification of Copy Number Variation in Domestic Chicken Using Whole-Genome Sequencing Reveals Evidence of Selection in the Genome

Animals, 2019
Copy number variation (CNV) has great significance both functionally and evolutionally. Various CNV studies are in progress to find the cause of human disease and to understand the population structure of livestock.
Donghyeok Seol, Byung June Ko, Bongsang Kim, Han-Ha Chai, Dajeong Lim, Heebal Kim   +5 more
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A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

Platelets, 2022
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed.
Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan   +9 more
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Key Role of Microglial Matrix Metalloproteinases in Choroidal Neovascularization

Frontiers in Cellular Neuroscience, 2021
Age-related macular degeneration (AMD), especially neovascular AMD with choroidal neovascularization (CNV), is the leading cause of blindness in the elderly.
Juhee Kim, Jong-Heon Kim, Ji Yeon Do, Jung Yi Lee, Jung Yi Lee, Ryoji Yanai, In-kyu Lee, In-kyu Lee, In-kyu Lee, Kyoungho Suk, Kyoungho Suk, Dong Ho Park, Dong Ho Park, Dong Ho Park   +13 more
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In vitro membrane-associated modification assays of wild-type or mutated versions of Rasp2 S-cNV-H₆. [PDF]

, 2016
(A) Amino acid (aa) alignment of the C-terminal region of the NTB domain for relevant mutants of Rasp2. The Rasp1 sequence is also shown for reference. Mutated aa are underlined. The alignment starts with the four C-terminal aa of the TM2 domain and ends
Hélène Sanfaçon (286430), Ting Wei (113015), Joan Chisholm (3098190)   +2 more
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A Shallow Convolutional Learning Network for Classification of Cancers Based on Copy Number Variations

Sensors, 2019
Genomic copy number variations (CNVs) are among the most important structural variations. They are linked to several diseases and cancer types. Cancer is a leading cause of death worldwide.
Ahmad AlShibli, Hassan Mathkour
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Association between choriocapillaris flow deficit and choroidal neovascularization activity in eyes with myopic choroidal neovascularization

Scientific Reports, 2021
Although choriocapillaris flow deficit (CFD) around choroidal neovascularization (CNV) is less associated with CNV activity in myopic eyes, no reports are investigating its size as an indicator of CNV activity.
Sato Uematsu, Hirokazu Sakaguchi, Kaori Sayanagi, Yasushi Ikuno, Ayako Yokoyama, Tomoko Asai, Yoko Fukushima, Chikako Hara, Susumu Sakimoto, Kohji Nishida   +9 more
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De la desregulación y crisis a las finanzas para el desarrollo económico [PDF]

Ola Financiera, 2009
Después de un largo periodo de fuerte desregulación financiera no solo no se generaron condiciones de crecimiento económico sostenido, sino que las posibilidades de desarrollo se extinguieron por completo para el mundo entero, desde China a Estados ...
Alejandro Vanoli, Augusto Magliano
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