Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Jacqueline Neubauer"'
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Akademický článek
Exploratory DNA methylation analysis in post-mortem heart tissue of sudden unexplained death
Autor: Charlotte Sutter, Cordula Haas, Peter K. Bode, Jacqueline Neubauer, Jeppe Dyrberg Andersen
Publikováno v: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Sudden unexplained death (SUD) is a devastating event in the young. Despite efforts to identify causal genetic variants, many cases remain unexplained after genetic screening. This study aimed to investigate an alternative potenti
Externí odkaz: https://doaj.org/article/03347193fa3249ee80ed2b2ba52399b1
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4
Forensic transcriptome analysis using massively parallel sequencing
Autor: Andrea Patrizia Salzmann, Erin K. Hanson, Cordula Haas, Jack Ballantyne, Jacqueline Neubauer
The application of transcriptome analyses in forensic genetics has experienced tremendous growth and development in the past decade. The earliest studies and main applications were body fluid and tissue identification, using targeted RNA transcripts
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09e645225fa0c2edf5cb1ba45736505b
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5
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases
Autor: Cordula Haas, Giancarlo Russo, Jacqueline Neubauer, Shouyu Wang
Publikováno v: International Journal of Legal Medicine, 135 (4)
International Journal of Legal Medicine
Sudden unexplained death (SUD) takes up a considerable part in overall sudden death cases, especially in adolescents and young adults. During the past decade, many channelopathy- and cardiomyopathy-associated single nucleotide variants (SNVs) have be
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd276e20a9c97b6b08ad3b3724a25f9c
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6
Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes
Autor: Argelia Medeiros-Domingo, Wolfgang Berger, Christine Bartsch, Giancarlo Russo, Maria Rita Lecca, Jacqueline Neubauer, Cordula Haas
Publikováno v: International Journal of Legal Medicine. 132:1057-1065
Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic car
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d69ba867c6f03ec426c92c7851b8745
https://doi.org/10.1007/s00414-018-1775-y
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7
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases
Autor: Giancarlo Russo, Maria Rita Lecca, Wolfgang Berger, Cordula Haas, Christine Bartsch, Argelia Medeiros-Domingo, Jacqueline Neubauer
Publikováno v: European Journal of Human Genetics
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic disease
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ce32f81f09ff46c6490e41a0865876
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8
Functional implications of a rare variant in the sodium channel β1B subunit ( SCN1B ) in a 5-month-old male sudden infant death syndrome case
Autor: Cordula Haas, Jacqueline Neubauer, Hugues Abriel, Jean-Sébastien Rougier
Key Teaching Points • Sudden infant death syndrome (SIDS) is defined as the sudden death of a healthy infant younger than 1 year of age without any obvious cause of death. Despite intensive genetic investigations, the underlying pathophysiological
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d48c7bb15cb9f2ade96b4a898d02c438
https://doi.org/10.5167/uzh-158279
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9
Sex-dependent differences in the in vivo respiratory phenotype of the TASK-1 potassium channel knockout mouse
Autor: Ines Tegtmeier, Christina Sterner, Richard Warth, Jörg Thomas, Philipp K. Buehler, Jacques Barhanin, Stefan Jungbauer, Cordula Haas, Dirk Heitzmann, Jacqueline Neubauer, Michael Georgieff
Publikováno v: Respiratory physiologyneurobiology. 245
TASK-1 potassium channels have been implicated in central and peripheral chemoreception; however, the precise contribution of TASK-1 for the control of respiration is still under debate. Here, we investigated the respiration of unrestrained adult and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::577b74d4241c4dfdcf1ca98b9673c195
https://pubmed.ncbi.nlm.nih.gov/27838333
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10
Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases
Autor: Jacqueline Neubauer, Cordula Haas, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger
Publikováno v: Neubauer, Jaqueline; Haas, Cordula; Bartsch, Christine; Medeiros Domingo, Argelia; Berger, Wolfgang (2016). Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine, 130(4), pp. 1011-1021. Springer 10.1007/s00414-016-1317-4
International Journal of Legal Medicine
Sudden death of healthy young adults in the absence of any medical reason is generally categorised as autopsy-negative sudden unexplained death (SUD). Approximately 30 % of all SUD cases can be explained by lethal sequence variants in cardiac genes c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84a3411d768f10186349737df63d4f24
https://pubmed.ncbi.nlm.nih.gov/26966097
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