Littérature scientifique sur le sujet « Identificazione genetica »
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Articles de revues sur le sujet "Identificazione genetica"
Comelli, L., et A. Rinaldi. « Angioma Cavernoso Cerebrale ». Rivista di Neuroradiologia 7, no 4 (août 1994) : 659–66. http://dx.doi.org/10.1177/197140099400700414.
Texte intégralAndreula, CF, et A. N. M. Recchia Luciani. « Le cosiddette facomatosi ». Rivista di Neuroradiologia 7, no 2 (avril 1994) : 231–40. http://dx.doi.org/10.1177/197140099400700211.
Texte intégralPezzella, C., L. Villa, A. Ricci, E. Digiannatale, I. Luzzi et A. Carattoli. « IDENTIFICAZIONE E CARATTERIZZAZIONE DEI DETERMINANTI GENETICI DI ANTIBIOTICO-RESISTENZA IN CEPPI DI SALMONELLA ENTERICA DI ORIGINE ANIMALE ». Microbiologia Medica 18, no 2 (30 juin 2003). http://dx.doi.org/10.4081/mm.2003.4270.
Texte intégralPezzella, Cristina, Laura Villa, Alessia Bertini, Antonia Ricci, Elisabetta Di Giannatale, Ida Luzzi et Alessandra Carattoli. « Identificazione e caratterizzazione dei determinanti genetici di antibiotico-resistenza in ceppi di Salmonella enterica di origine animale ». Microbiologia Medica 19, no 4 (31 décembre 2004). http://dx.doi.org/10.4081/mm.2004.2993.
Texte intégralThèses sur le sujet "Identificazione genetica"
Sorcaburu, Cigliero Solange. « Identificazione di linee guida per l'analisi genetico-forense mediante utilizzo di DNA degradati in vitro ». Doctoral thesis, Università degli studi di Trieste, 2015. http://hdl.handle.net/10077/10857.
Texte intégralNel corso di questo lavoro e stato ottimizzato un metodo per ottenere –mediante idrolisi acquosa- campioni di DNA danneggiati in maniera controllata (r2= 0.997). Uno di questi campioni, denominato trial sample (TS), veniva sottoposto ad un esperimento interlaboratorio (n=25) nel corso del quale ogni partecipante doveva fornire dati relativi alla quantificazione del campione ed al suo l’assetto genotipico. L’impiego della qPCR ha dimostrato che, in campioni danneggiati, e possibile fornire solo una indicazione che e relativa (ed inversamente proporzionale) alla lunghezza (r2=0.891) della regione target. Circa i genotipi forniti, veniva osservato che, a causa di un’elevata frequenza di artefatti di PCR, l’esecuzione di un basso numero di tre repliche(≤ 3)puo portare ad errori(n=4. Lo sviluppo del metodo “consensus TSPV", invece,eliminava tali errori di genotipizzazione. L’utilizzo di tale metodo di “consensus” ha dimostrato che, per campioni degradati ed in condizione di Low Copy Number (≤ 96 pg/PCR), neanche l’esecuzione di sette repliche mette totalmente al riparo da errori di genotipizzazioni.Anche la tecnologia Illumina di Next Generation Sequencing e stata testata mediante un set di campioni danneggiati. Pure la fedeltà di questa tecnologia e stata molto influenzata dalla qualità del templato. Il“consensus TSPV”, inoltre, evidenziava che errori di genotipizzazione possono emergere quando vengono eseguite due sole repliche. Il maggiore limite dell’analisi forense sembra derivare proprio dall’elevatissima sensibilità analitica oggi ottenibile.
In the course of this work has been optimized a method to obtain -by hydrolysis in water- damaged DNA samples in a controlled manner (r2=0.997). One of these samples, called trial sample (TS), was subjected to an inter-laboratory experiment (n=25)during which each participant had to provide data on the quantification of the sample and its trim genotype. The use of the qPCR showed that, in damaged samples, it is possible to provide only an indication that is relative (and inversely proportional) to the length (r2=0891)of the target region. About the genotypes provided, was observed that, due to a high frequency of PCR artifacts, the execution of a low number of three replicates (≤3)may lead to errors (n=4). Method development "consensus TSPV", instead, eliminated these errors genotyping. The use of this method "consensus" has shown that, for degraded samples and under Low Copy Number conditions (≤96pg/PCR),even the execution of seven replicas puts totally immune from errors in genotyping. Even Illumina technology of Next Generation Sequencing was tested using a set of damaged samples. Even the fidelity of this technology has been very influenced by the quality of the template. The "consensus TSPV" also showed that genotyping errors can arise when running only two replicas. The major limitation of the forensic analysis seems to derive just by the very high analytical sensitivity obtainable today.
XXVII Ciclo
1973
Minopoli, Fiorella <1977>. « Analisi di “Copy Number Variants” ed identificazione di nuovi geni candidati per l’Autismo e Ritardo Mentale ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4838/1/Minopoli_Fiorella_Tesi.pdf.
Texte intégralAutism spectrum disorders (ASD) and intellectual disability (ID) are characterized by a complex and heterogeneous genetic etiology. Recent developments in genomic research have enabled the discovery of numerous copy number variants (CNVs) in the pathogenesis of these disorders, although their etiology remains unknown in the majority of cases. This work concerns the identification and characterization of specific CNVs in families with ASD and ID. I studied a microdeletion in 7q31 encompassing the two genes DOCK4 and IMMP2L, transmitted from the mother (who has dylsexia) to two children with autism and to a daughter with dyslexia. In the same family we identified a second microdeletion in 2q14, that inactivates CNTNAP5, and is transmitted by the father (with ASD) to the two children with autism. We therefore hypothesized that DOCK4 and CNTNAP5 could be implicated in susceptibility to dyslexia and ASD, respectively. Screening of numerous affected individuals supported our hypothesis, leading to the identification of a new DOCK4 microdeletion segregating with dyslexia, and 3 new missense variants in CNTNAP5 in individuals with autism.Through array comparative genomic hybridization (aCGH) of individuals with ID, we also identified a 7q31.32 microdeletion involving the CADPS2 gene in two brothers with ID and autistic features, probably inherited from the mother. Screening for mutations in this gene in individuals with autism or ID, has led to the identification of 3 maternally inherited nonsynonymous variants, absent in controls. Since CADPS2 is located in a genomic region containing imprinted loci, we hypothesized that CADPS2 itself could be subjected to imprinting, with maternal monoallelic expression. Expression analysis of CADPS2 in blood cells supported this hypothesis, therefore suggesting CADPS2 as a new susceptibility gene for ID and ASD, and as possible new imprinted gene .
Minopoli, Fiorella <1977>. « Analisi di “Copy Number Variants” ed identificazione di nuovi geni candidati per l’Autismo e Ritardo Mentale ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4838/.
Texte intégralAutism spectrum disorders (ASD) and intellectual disability (ID) are characterized by a complex and heterogeneous genetic etiology. Recent developments in genomic research have enabled the discovery of numerous copy number variants (CNVs) in the pathogenesis of these disorders, although their etiology remains unknown in the majority of cases. This work concerns the identification and characterization of specific CNVs in families with ASD and ID. I studied a microdeletion in 7q31 encompassing the two genes DOCK4 and IMMP2L, transmitted from the mother (who has dylsexia) to two children with autism and to a daughter with dyslexia. In the same family we identified a second microdeletion in 2q14, that inactivates CNTNAP5, and is transmitted by the father (with ASD) to the two children with autism. We therefore hypothesized that DOCK4 and CNTNAP5 could be implicated in susceptibility to dyslexia and ASD, respectively. Screening of numerous affected individuals supported our hypothesis, leading to the identification of a new DOCK4 microdeletion segregating with dyslexia, and 3 new missense variants in CNTNAP5 in individuals with autism.Through array comparative genomic hybridization (aCGH) of individuals with ID, we also identified a 7q31.32 microdeletion involving the CADPS2 gene in two brothers with ID and autistic features, probably inherited from the mother. Screening for mutations in this gene in individuals with autism or ID, has led to the identification of 3 maternally inherited nonsynonymous variants, absent in controls. Since CADPS2 is located in a genomic region containing imprinted loci, we hypothesized that CADPS2 itself could be subjected to imprinting, with maternal monoallelic expression. Expression analysis of CADPS2 in blood cells supported this hypothesis, therefore suggesting CADPS2 as a new susceptibility gene for ID and ASD, and as possible new imprinted gene .
Bovina, Riccardo <1980>. « Identificazione di mutanti di interesse agronomico in orzo mediante approcci di genetica diretta e inversa ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1972/1/Bovina_Riccardo_Tesi.pdf.
Texte intégralBovina, Riccardo <1980>. « Identificazione di mutanti di interesse agronomico in orzo mediante approcci di genetica diretta e inversa ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1972/.
Texte intégralGoldoni, Alberto <1975>. « Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/42/1/SCHEMA_TESI_FINALE.pdf.
Texte intégralGoldoni, Alberto <1975>. « Identificazione di nuovi geni associati al fenotipo di Hirschsprung in C. Elegans e loro controparte umana ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/42/.
Texte intégralMantovani, Paola <1978>. « Identificazione di un QTL principale per resistenza a ruggine bruna sul cromosoma 7B di frumento duro ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1748/1/Mantovani_tesi.pdf.
Texte intégralMantovani, Paola <1978>. « Identificazione di un QTL principale per resistenza a ruggine bruna sul cromosoma 7B di frumento duro ». Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1748/.
Texte intégralDESOGUS, ALESSIA. « Identificazione e analisi funzionale di fattori regolatori dei geni globinici ». Doctoral thesis, Università degli Studi di Cagliari, 2014. http://hdl.handle.net/11584/266529.
Texte intégralLivres sur le sujet "Identificazione genetica"
service), SpringerLink (Online, dir. Introduzione alla genetica forense : Indagini di identificazione personale e di paternità. Milano : Springer-Verlag Milan, 2010.
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