نتائج البحث - "copy number variants (CNVs)"

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38048114; volume:174; issue:6; journal:LA CLINICA TERAPEUTICA; https://hdl.handle.net/11573/1706347Test

الإتاحة: https://doi.org/10.7417/CT.2023.5018Test
https://hdl.handle.net/11573/1706347Test

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3

دورية أكاديمية

Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches

المؤلفون: Paola Granata, Dario Cocciadiferro, Alessandra Zito, Chiara Pessina, Alessandro Bassani, Fabio Zambonin, Antonio Novelli, Mauro Fasano, Rosario Casalone

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: 16p13.11 microdeletion, copy number variants (CNVs), whole exome sequencing (WES), neurodevelopmental disorders, protein-protein interactions (PPIs), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.798607/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/1e003e08c96e4b85ae41d59ee7bd334bTest

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النص الكامل

4

دورية أكاديمية

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.

المؤلفون: Maggi, Jordi, Koller, Samuel, Feil, Silke, Bachmann-Gagescu, Ruxandra, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Int J Mol Sci ; ISSN:1422-0067 ; Volume:25 ; Issue:12

مصطلحات موضوعية: added diagnostic value, copy number variants (CNVs), deep-intronic variants, diagnostic yield, genetic testing, inherited retinal dystrophy (IRD), molecular diagnostics, structural variants (SVs), whole exome sequencing (WES), whole genome sequencing (WGS)

العلاقة: https://doi.org/10.3390/ijms25126540Test; https://pubmed.ncbi.nlm.nih.gov/38928247Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203445Test/

الإتاحة: https://doi.org/10.3390/ijms25126540Test
https://pubmed.ncbi.nlm.nih.gov/38928247Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203445Test/

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5

دورية أكاديمية

Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies.

المؤلفون: de Uña-Iglesias, David, Ochoa, Juan Pablo, Monserrat, Lorenzo, Barriales-Villa, Roberto

المصدر: Genes (Basel) ; ISSN:2073-4425 ; Volume:15 ; Issue:6

مصطلحات موضوعية: ARVC, DCM, HCM, LVNC, NGS, RCM, arrhythmogenic right ventricular dysplasia, cardiomyopathies, copy number variants (CNVs), dilated cardiomyopathy, hypertrophic cardiomyopathy, non-compaction cardiomyopathy, restrictive cardiomyopathy

العلاقة: https://doi.org/10.3390/genes15060774Test; https://pubmed.ncbi.nlm.nih.gov/38927710Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203228Test/

الإتاحة: https://doi.org/10.3390/genes15060774Test
https://pubmed.ncbi.nlm.nih.gov/38927710Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203228Test/

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6

دورية أكاديمية

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

المؤلفون: Anna Minaidou, Stella Tamana, Coralea Stephanou, Maria Xenophontos, Cornelis L. Harteveld, Celeste Bento, Marina Kleanthous, Petros Kountouris

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 24, p 15920 (2022)

مصطلحات موضوعية: haemoglobinopathies, copy number variants (CNVs), MLPA, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/23/24/15920Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/e31a4fdfab6f497b84807391d51b8824Test

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النص الكامل

7

دورية أكاديمية

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

المؤلفون: Recalcati M. P., Catusi I., Garzo M., Redaelli S., Massimello M., Maitz S. B., Gentile M., Ponzi E., Orsini P., Zilio A., Montaldi A., Calo A., Capra A. P., Briuglia S., La Rosa M. A., Grillo L., Romano C., Bianca S., Malacarne M., Buse M., Piccione M., Larizza L.

المساهمون: Recalcati M.P., Catusi I., Garzo M., Redaelli S., Massimello M., Maitz S.B., Gentile M., Ponzi E., Orsini P., Zilio A., Montaldi A., Calo A., Capra A.P., Briuglia S., La Rosa M.A., Grillo L., Romano C., Bianca S., Malacarne M., Buse M., Piccione M., Larizza L.

مصطلحات موضوعية: 12q21 deletion, array-CGH, congenital anomalies, copy number variants (CNVs), developmental delay/intellectual disability (DD/ID), dysmorphisms, genetic counseling, loss of function, patient management, variation intolerant genes, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35627165; info:eu-repo/semantics/altIdentifier/wos/WOS:000802446100001; volume:13; issue:5; firstpage:780; numberofpages:12; journal:GENES; https://hdl.handle.net/10447/579212Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129732267

الإتاحة: https://doi.org/10.3390/genes13050780Test
https://hdl.handle.net/10447/579212Test

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8

دورية أكاديمية

Whole exome sequencing in 16p13.11 microdeletion patients reveals new variants through deductive and systems medicine approaches

المؤلفون: Granata P., Cocciadiferro D., Zito A., Pessina C., Bassani A., Zambonin F., Novelli A., Fasano M., Casalone R.

المساهمون: Granata, P., Cocciadiferro, D., Zito, A., Pessina, C., Bassani, A., Zambonin, F., Novelli, A., Fasano, M., Casalone, R.

مصطلحات موضوعية: 16p13.11 microdeletion, copy number variants (CNVs), neurodevelopmental disorder, protein-protein interactions (PPIs), whole exome sequencing (WES)

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35368691; info:eu-repo/semantics/altIdentifier/wos/WOS:000777532100001; volume:13; firstpage:1; lastpage:14; numberofpages:14; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11383/2136044Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127518542

الإتاحة: https://doi.org/10.3389/fgene.2022.798607Test
http://hdl.handle.net/11383/2136044Test

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