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Articles de revues sur le sujet « Aspetti genetici »

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Auteur : Grafiati
Publié le 10 mars 2023

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1

Falchetti, A., et M. L. Brandi. « Aspetti genetici dell'ipercalciuria primitiva ». Giornale di Clinica Nefrologica e Dialisi 16, no 3 (1 juillet 2004) : 29–30. http://dx.doi.org/10.33393/gcnd.2004.1602.

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Falchetti, A., et M. L. Brandi. « Aspetti genetici dell'ipercalciuria primitiva ». Giornale di Tecniche Nefrologiche e Dialitiche 16, no 3 (juillet 2004) : 29–30. http://dx.doi.org/10.1177/039493620401600311.

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Gourfinkel-An, I. « Aspetti genetici delle epilessie ». EMC - Neurologia 9, no 3 (janvier 2009) : 1–14. http://dx.doi.org/10.1016/s1634-7072(09)70509-4.

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Lesca, G. « Aspetti genetici delle epilessie ». EMC - Neurologia 18, no 4 (avril 2018) : 1–12. http://dx.doi.org/10.1016/s1634-7072(18)41286-x.

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Planté-Bordeneuve, V. « Introduzione agli aspetti genetici delle neuropatie ». EMC - Neurologia 8, no 3 (janvier 2008) : 1–11. http://dx.doi.org/10.1016/s1634-7072(08)70524-5.

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Planté-Bordeneuve, V., et H. Salhi. « Introduzione sugli aspetti genetici delle neuropatie ». EMC - Neurologia 15, no 3 (août 2015) : 1–11. http://dx.doi.org/10.1016/s1634-7072(15)72178-1.

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Tamburrino, Federica, Emanuela Scarano, Annamaria Perri, Margherita Costa et Laura Mazzanti. « Sindromi da iperaccrescimento : aspetti clinici e genetici ». L'Endocrinologo 20, no 5 (5 août 2019) : 257–60. http://dx.doi.org/10.1007/s40619-019-00611-3.

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Zaccaro, Antonella, et Maria Francesca Freda. « La consulenza genetica : verso un modello integrato medico-psicologico ». PSICOLOGIA DELLA SALUTE, no 1 (mai 2011) : 11–32. http://dx.doi.org/10.3280/pds2011-001003.

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Nel presente contributo, le autrici intendono definire il processo comunicativo dellaattraverso un breveteorico sulla sua evoluzione e sul suo significato per approfondire il discorso intorno alla relazione di cura tra consulente e cliente e sullo spazio della professionalitŕ psicologica in tale contesto di intervento. L'obiettivo č esplorare le implicazioni esistenziali che ladi richiedere consulenza genetica, cosě come quella di svolgere test genetici, si inseriscono nel complesso della vita dei probandi. Pertanto, ilč sui principali aspetti psicologici che ruotano intorno al, relativo all'utilitŕ di svolgere test genetici e all'impatto della comunicazione dei risultati genetici () e alconcernente tanto il momento preliminare la richiesta stessa di consulenza, quanto quello finale l'iter consulenziale con tutte le conseguenze del.
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Gainotti, Sabina, et Antonio G. Spagnolo. « Test genetici : a che punto siamo in Europa ? A margine del Rapporto e delle Raccomandazioni della Commissione Europea sugli aspetti etici, giuridici e sociali dei test genetici ». Medicina e Morale 53, no 4 (31 août 2004) : 737–66. http://dx.doi.org/10.4081/mem.2004.631.

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Il 6 e 7 maggio 2004 a Bruxelles ha avuto luogo un congresso organizzato dalla Commissione Europea per stimolare la riflessione sulle implicazioni etiche, sociali e giuridiche legate allo sviluppo e all’utilizzo dei test genetici. Gli Autori riferiscono sulle conclusioni di quelle due giornate, dedicate alla lettura ed alla discussione di 25 raccomandazioni proposte da un gruppo di lavoro multidisciplinare composto da politici, accademici, rappresentanti dell’industria e di organizzazioni volontarie di pazienti di vari paesi dell’Unione. La qualità dei test genetici disponibili, l’accuratezza dei loro risultati, le condizioni di accesso ai test e ai trattamenti (soprattutto per le persone con malattie rare), l’utilizzo appropriato dei campioni e dei dati, il consenso informato ed il rispetto della privacy, il counselling genetico pre e post test, il rischio di discriminazioni sulla base del genere e dell’etnia: questi sono solo alcuni dei problemi emersi in sede congressuale. Le 25 raccomandazioni della Commissione Europea si differenziano per certi versi da altri documenti e dichiarazioni internazionali, soprattutto per quanto riguarda lo “statuto” assegnato ai dati genetici (“eccezionalità” genetica); secondo il Gruppo di lavoro che ha scritto le raccomandazioni l’informazione genetica non è diversa dagli altri dati medici, e dunque dovrebbe essere trattata allo stesso modo. È pur vero però, che i test genetici offrono nuove informazioni e conoscenze che potranno complicare non solo il rapporto tra medico e paziente, ma anche quello tra paziente e familiari. Con l’aumento dei test genetici ci sarà bisogno di riferimenti chiari ed accettabili per tutte le parti coinvolte: medici, pazienti e familiari avranno bisogno di riferimenti per risolvere problemi pratici, per conciliare i vari diritti dei pazienti (ad es. i diritti di sapere o di non sapere, di condividere le informazioni o meno), e doveri dei medici (dovere di mantenere il segreto professionale e proteggere la privacy, ma talvolta anche il dovere di avvertire). Il consenso informato dovrà aiutare le persone a comprendere in modo adeguato tutte le implicazioni di un test, dalle sue possibili conseguenze a livello familiare e sociale, alla classificazione e all’uso dei suoi dati clinici e genetici per le ricerche future. Quando poi l’ “oggetto” di studio non è più il singolo individuo, ma gruppi ristretti di persone (ad es., negli screening genetici), sarà necessario un “consenso di gruppo”, mentre gli studi sulle popolazioni riguarderanno le società in senso lato. Infine rimane un interrogativo importante: tutti questi cambiamenti aumenteranno il livello di costo della sanità? Molti sono gli scenari e gli sviluppi possibili, ma questi non dipendono solo dai progressi della scienza. Per far si che i benefici di queste innovazioni superino i rischi corsi dagli individui e dalla società, sarà importante creare un quadro normativo responsabile, che sappia accompagnare e misurare le varie attività di implementazione dei test genetici, sia a livello dei singoli Stati, sia a livello dell’Unione Europea.
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Garofalo, Lorella, et Vincenza Mele. « Approccio bioetico e biogiuridico al “counseling” genetico per malattia di Alzheimer ». Medicina e Morale 50, no 1 (28 février 2001) : 41–59. http://dx.doi.org/10.4081/mem.2001.716.

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L’articolo, dopo aver analizzato gli aspetti etici legati alla medicina predittiva e dopo aver illustrato la malattia di Alzheimer da un punto di vista patologico ed eziologico, si sofferma sulla significatività etica del ruolo del counseling genetico, in particolare in relazione al caso in cui la richiesta del test predittivo venga da parte di soggetti a rischio, asintomatici, che presentano una familiarità la cui eziologia è nota, e per i quali il test è disponibile. In questo caso la riflessione etica è maggiormente problematizzante e coinvolge diversi aspetti: l’uso di test sicuri ed efficaci in strutture sanitarie ben identificate con standard di qualità garantiti; le problematiche legate alla consulenza (autonomia decisionale dell’utente, il consenso informato, l’assistenza psico-sociale); la formazione professionale del personale sanitario. In seguito gli autori riportano e commentano i dati di un’indagine conoscitiva in merito al test predittivo e alle strutture sanitarie. Infine, nel delineare le direttive etiche per i consulenti, viene messo in risalto lo spessore bioetico e biogiuridico del ruolo dell’operatore nel counseling genetico, spessore che viene ulteriormente messo in luce dalla peculiare responsabilità che l’operatore si assume nella protezione dei dati genetici.
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Belletti, P., P. Camerano, D. Ferrazzini, R. Fiorentin et F. Cego Pernigotto. « Biological, ecological and genetic aspects of Narrow leaved ash (Fraxinus angustifolia Vahl) in the northeastern Italy ». Forest@ - Rivista di Selvicoltura ed Ecologia Forestale 12, no 1 (30 décembre 2015) : 25–40. http://dx.doi.org/10.3832/efor1628-012.

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Rowe, Isaline, Marco Chiaravalli et Alessandra Boletta. « Difetti nel metabolismo del glucosio nel rene policistico : primi studi e prospettive future ». Giornale di Clinica Nefrologica e Dialisi 25, no 2 (6 décembre 2013) : 172–79. http://dx.doi.org/10.33393/gcnd.2013.1032.

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Il rene policistico autosomico dominante (ADPKD) è una malattia genetica molto comune, caratterizzata dalla formazione di cisti in entrambi i reni. Diverse considerazioni circa i meccanismi genetici e molecolari che stanno alla base della formazione delle cisti in questa malattia sono ancora controverse, ma c'è oggi un ampio consenso sul fatto che la ADPKD sia dovuta alla perdita di funzionalità di uno dei due geni mutati nella malattia, PKD1 o PKD2. In questo breve articolo parleremo in particolare di due aspetti: 1) cercheremo di dare una panoramica sullo stato dell'arte di quanto a oggi compreso sulle basi genetiche e molecolari della malattia, cercando di fornire una visione integrata dei diversi modelli di cistogenesi proposti; 2) forniremo una descrizione dettagliata e un'ampia discussione sui recenti risultati riportati dal nostro laboratorio su un difetto a livello del metabolismo del glucosio nella ADPKD e sulle sue potenziali implicazioni terapeutiche, evidenziando anche la necessità di un'ulteriore validazione dei nostri risultati in altri modelli animali di malattia a esordio tardivo e a progressione lenta.
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Di Trani, Michela, Stefano Marinucci et Daniela Tortolani. « Il modello analitico di fronte alla diagnosi di disturbo da deficit dell'attenzione ed iperattivitŕ ». PSICOBIETTIVO, no 2 (juillet 2012) : 40–56. http://dx.doi.org/10.3280/psob2012-002003.

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Gli autori affrontano una riflessione critica sulla diagnosi ed il trattamento dell'ADHD, soffermandosi sui protocolli di valutazione, gli strumenti diagnostici e l'utilizzazione dei farmaci. Rispetto a quest'ultimo argomento, dopo aver segnalato le strategie messe in campo dalle case farmaceutiche, vengono descritti i farmaci, le indicazioni e gli effetti collaterali, discutendo gli studi che hanno mostrato una limitata efficacia dei farmaci nel breve periodo e una equivalenza con interventi psico-sociali nel lungo periodo. S'ipotizza la necessitŕ di rivedere la classificazione nosografia dell'ADHD, alla luce dell'interazione di aspetti genetici e determinanti psico-sociali, e di limitare l'uso dei farmaci ad un trattamento sintomatico e temporaneo.
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Lombardo, Luigi, et Roberta Rossi. « Disfunzioni sessuali e Sclerosi multipla : aspetti epidemiologici, eziopatogenetici e clinici ». RIVISTA DI SESSUOLOGIA CLINICA, no 1 (juillet 2011) : 55–74. http://dx.doi.org/10.3280/rsc2011-001004.

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La Sclerosi multipla (SM) č una malattia cronica che colpisce i giovani adulti in un'etŕ compresa fra i 21 ed i 54 anni ed č piů comune fra le donne che fra gli uomini. Č una malattia degenerativa che provoca una demielinizzazione progressiva nel sistema nervoso con sintomi che dipendono dal tipo di forma clinica e dalla localizzazione delle lesioni. La SM č una malattia a genesi presumibilmente autoimmune associata a fattori di rischio genetici ed ambientali probabilmente correlati ad agenti patogeni ancora non esattamente individuati. Tra i fattori ambientali, le infezioni sessualmente trasmesse sono quelle piů probabilmente connesse con l'eziologia della malattia. Nelle ultime decadi č stato osservato un aumento dei tassi di incidenza e prevalenza e ciň ha posto l'Italia fra le zone ad lato rischio. La SM esercita un impatto diretto sulla sessualitŕ dovuto alle lesioni nel sistema nervoso centrale e periferico ed ai diversi sintomi neurologici ed ha un grosso impatto sulla qualitŕ della vita. Le disfunzioni sessuali colpiscono circa il 50-90% degli uomini ed il 40-80% delle donne affette da SM. I tipi di disfunzione sessuale (DS) possono essere categorizzati in tre livelli. DS primaria, che include la riduzione della libido, della lubrificazione e dell'orgasmo. DS secondaria, caratterizzata da limitazioni nell'attivitŕ sessuale dovute a sintomi fisici. DS terziaria, legata ad aspetti psicologici, emotivi, sociali e culturali.
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Gallese, Vittorio, et Margherita Spagnuolo Lobb. « Il now-for-next tra neuroscienze e psicoterapia della Gestalt ». QUADERNI DI GESTALT, no 2 (mai 2012) : 11–26. http://dx.doi.org/10.3280/gest2011-002002.

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L'articolo riporta la trascrizione di un dialogo incalzante e vivace tra gli autori sul recente libro di M. Spagnuolo Lobb, Il now-for-next in psicoterapia. La psicoterapia della Gestalt raccontata nella societŕ post-moderna. Ne viene fuori un confronto tra le recenti scoperte compiute dalle Neuroscienze da una parte e i temi cardine della psicoterapia della Gestalt dall'altra. Gli autori si ritrovano su argomenti quali l'intenzionalitŕ condivisa e l'attitudine umana a riconoscerla nell'altro, la genesi e lo sviluppo dell'atteggiamento accudente, la relazione terapeutica come spazio co-costruito, la practognosia di Merleau-Ponty, il rapporto tra motilitŕ e psicopatologia, l'autoregolazione del contatto terapeutico e la teoria della Simulazione Incarnata, l'intreccio tra aspetti genetici e strutturali dell'esperienza, la perdita di senso che avviene nell'esordio psicotico, la prospettiva somato-evolutiva dello sviluppo, l'evidenza non verbale dello sviluppo del paziente, la possibilitŕ di condizionare positivamente il comportamento umano e l'importanza per gli scienziati di rimanere aperti alla libertŕ umana.
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Caprì, Tindara, et Rosa Angela Fabio. « Processi cognitivi complessi e aggressività ». RICERCHE DI PSICOLOGIA, no 2 (septembre 2020) : 713–46. http://dx.doi.org/10.3280/rip2020-002012.

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Gli studi presenti in letteratura hanno mostrato l'esistenza di fattori cognitivi, emotivi e genetici che influenzano l'aggressività. Mentre molte ricerche focaliz-zano la loro attenzione sui processi cognitivi sociali, lo scopo del presente studio è quello di indagare la relazione tra processi cognitivi complessi e aggressività. Abbiamo esaminato tale relazione in 236 bambini delle scuole elementari. L'obiettivo principale di questa ricerca è indagare se nei bambini che attuano comportamenti aggressivi, esistono differenze non solo negli aspetti socio-cognitivi (Fase 1 della ricerca), come rilevato dagli studi presentati, ma anche nei processi cognitivi complessi che ne sono alla base, come il pensiero critico ed il problem solving (Fase 2 della ricerca). Sono stati confrontati due gruppi: soggetti aggressivi e di controllo. Abbiamo ipotizzato che i bambini con comportamento aggressivo mostrino capacità di pensiero critico e di problem solving inferiori ri-spetto al gruppo di controllo. I partecipanti erano inizialmente 121 maschi e 115 femmine, di età compresa tra 10 e 11 anni. La ricerca è stata articolata in due fasi distinte. Nella prima sono state somministrate tre scale di self report e una scala di nomina dei pari per valutare rispettivamente: il comportamento aggres-sivo, l'autoefficacia e il disimpegno morale; inoltre due scale sono state sommi-nistrate agli insegnanti per valutare i comportamenti aggressivi, disattentivi e ipe-rattivi dei bambini. Nella seconda fase, 31 bambini sono stati selezionati dal campione iniziale e suddivisi in due gruppi (aggressivo vs controllo). Il pensiero critico e le capacità di problem solving sono stati testati da cinque strumenti. I risultati mostrano un'interessante relazione tra comportamenti aggressivi e le di-mensioni analizzate e rivelano differenze significative tra bambini con compor-tamento aggressivo e gruppo di controllo solo nel pensiero critico, e non nelle ca-pacità di problem solving. I risulati sono stati discussi alla luce della teoria dell'elaborazione delle informazioni sociali, secondo cui le abilità sociali e cogni-tive giocano un ruolo chiave nell'influenzare il comportamento aggressivo.
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COGGON, JOHN. « Confrontations in “Genethics” : Rationalities, Challenges, and Methodological Responses ». Cambridge Quarterly of Healthcare Ethics 20, no 1 (janvier 2011) : 46–55. http://dx.doi.org/10.1017/s0963180110000617.

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It was only a matter of time before the portmanteau term “genethics” would be coined and a whole field within bioethics delineated. The term can be dated back at least to 1984 and the work of James Nagle, who claims credit for inventing the word, which he takes “to incorporate the various ethical implications and dilemmas generated by genetic engineering with the technologies and applications that directly or indirectly affect the human species.” In Nagle’s phrase, “Genethic issues are instances where medical genetics and biotechnology generate ethical problems that warrant societal deliberation.” The great promises and terrific threats of developments in scientific understanding of genetics, and the power to enhance, modify, or profit from the knowledge science breeds, naturally offer a huge range of issues to vex moral philosophers and social theorists. Issues as diverse as embryo selection and the quest for immortality continue to tax analysts, who offer reasons as varied as the matters that might be dubbed “genethical” for or against the morality of things that are actually possible, logically possible, and even just tenuously probable science fiction.
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Fountoulakis, Stelios, et Agathocles Tsatsoulis. « Molecular genetic aspects and pathophysiology of endocrine hypertension ». HORMONES 5, no 2 (15 avril 2006) : 90–106. http://dx.doi.org/10.14310/horm.2002.11173.

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Stănescu, Ana Maria Alexandra, Constantin Ştefani, Ioana Veronica Grăjdeanu, Alexandra Totan, Daniela Miricescu, Bogdan Şerban, Gina Gheorghe, Ovidiu Gabriel Bratu et Camelia Cristina Diaconu. « Current issues on the genetic implications and treatment of androgenic alopecia ». Romanian Journal of Medical Practice 14, no 3 (30 septembre 2019) : 226–30. http://dx.doi.org/10.37897/rjmp.2019.3.3.

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Lee, Han-Chih Hencher, et Chor-Kwan Ching. « Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies ». Clinical Biochemist Reviews 40, no 4 (2019) : 187–200. http://dx.doi.org/10.33176/aacb-19-00030.

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Genetic testing has an increasingly important role in the diagnosis and management of cardiac disorders, where it confirms the diagnosis, aids prognostication and risk stratification and guides treatment. A genetic diagnosis in the proband also enables clarification of the risk for family members by cascade testing. Genetics in cardiac disorders is complex where epigenetic and environmental factors might come into interplay. Incomplete penetrance and variable expressivity is also common. Genetic results in cardiac conditions are mostly probabilistic and should be interpreted with all available clinical information. With this complexity in cardiac genetics, testing is only indicated in patients with a strong suspicion of an inheritable cardiac disorder after a full clinical evaluation. In this review we discuss the genetics underlying the major cardiomyopathies and channelopathies, and the practical aspects of diagnosing these conditions in the laboratory.
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Antero Kesäniemi, Y., Mauno Lilja, Kari Kervinen et Asko Rantala. « Multiple Metabolic Syndrome : Aspects of Genetic Epidemiology and Molecular Genetics ». Annals of Medicine 24, no 6 (janvier 1992) : 461–64. http://dx.doi.org/10.3109/07853899209166996.

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Uhrová Mészárosová, Anna, Radim Mazanec et Pavel Seeman. « Hereditary spastic paraplegias : clinical and genetic aspects ». Neurologie pro praxi 17, no 6 (1 décembre 2016) : 373–76. http://dx.doi.org/10.36290/neu.2016.079.

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Marx, Miguel, Tatiana De Menezes, Hermes Melo Teixeira Batista, Luiz Arthur Bevilaqua Bandeira, Antonio Marlos Duarte de Melo et Gislene Farias de Oliveira. « RELATED ASPECTS OF CLINICAL GENETICS AND RETT SYNDROME EVOLUTION ». Amadeus International Multidisciplinary Journal 2, no 4 (8 juillet 2018) : 129–39. http://dx.doi.org/10.14295/aimj.v2i4.39.

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Rett syndrome has yielded many articles over the years since its discovery. This is a production that aims to recover some concepts already brought by other authors, to fix the genetic aspect of the affection, as well as the clinical evolution and associated diseases. Methodology: The screen study is the result of consultations in national and international databases, most notably PubMed and Scielo as a source of academic articles. In the consultations we used the following keywords: Rett Syndrome, Mental Deficit, Multiple Deficit, Epileptic Crisis, and Genetics, we still serve three journals: Genomics & Genetics Weekly, Genetic, Social and General Psychology Monographs and Journal of Medical Genetics of the English equivalent as descriptors: Rett Syndrome, Mental Limitation, General Limitation, Epilepsy and Genetics. In our consultation we found 185 articles and of these, we use 32 to compose our bibliographic reference. Keywords: Rett syndrome. Mental deficiency. Multiple Deficit. Epileptic
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Kobierska-Brzoza, Joanna, et Urszula Kaczmarek. « Genetic Aspects of Dental Caries ». Dental and Medical Problems 53, no 3 (2016) : 413–18. http://dx.doi.org/10.17219/dmp/62964.

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Kramerová, L., P. Krejčí, E. Míšová et A. Ševecová. « Molecular and Genetic Basis of Non-Syndromic Tooth Agenesis ». Česká stomatologie/Praktické zubní lékařství 115, no 1 (1 mars 2015) : 4–12. http://dx.doi.org/10.51479/cspzl.2015.002.

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Kramerová, L., P. Krejčí, E. Míšová et A. Ševecová. « Molecular and Genetic Basis of Non-Syndromic Tooth Agenesis ». Česká stomatologie/Praktické zubní lékařství 115, no 1 (1 mars 2015) : 4–12. http://dx.doi.org/10.51479/cspzl.2015.002.

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OBERNAUEROVÁ, M., et J. ŠUBÍK. « Biochemical-genetic aspects of saccharose utilization by yeast of Saccharomyces cerevisiae. » Kvasny Prumysl 33, no 4 (1 avril 1987) : 108–10. http://dx.doi.org/10.18832/kp1987022.

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Scolozzi, C. « Aspetti biomolecolari della malattia renale policistica (PKD) ». Giornale di Clinica Nefrologica e Dialisi 24, no 4 (26 janvier 2018) : 92–94. http://dx.doi.org/10.33393/gcnd.2012.1182.

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La malattia renale policistica autosomica dominante (ADPKD) è la più comune malattia genetica renale, con incidenza stimata di fra 1:400 e 1:1.000 e causata da mutazioni genetiche di PKD1 (85%) o PKD2 (15%). La caratteristica principale di ADPKD è la presenza di cisti multiple piene di liquido che si ingrandiscono nel tempo. L'espansione e l'iniziazione delle cisti è un complesso processo caratterizzato da anomalie nella proliferazione cellulare, nella secrezione di fluidi, nella formazione della matrice extracellulare e nella polarità delle cellule. Attualmente le strategie terapeutiche maggiormente indagate sono tre: 1) riduzione del livello di cAMP; 2) inibizione della proliferazione cellulare; 3) riduzione della secrezione di fluidi nelle cisti.
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Witczak, Bartosz, Justyna E. Klusek et Jolanta Klusek. « Genetic aspects of male infertility ». Medical Studies 4 (2014) : 276–79. http://dx.doi.org/10.5114/ms.2014.47928.

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Tluczek, Audrey, Marie E. Twal, Laura Curr Beamer, Candace W. Burton, Leslie Darmofal, Mary Kracun, Karen L. Zanni et Martha Turner. « How American Nurses Association Code of Ethics informs genetic/genomic nursing ». Nursing Ethics 26, no 5 (29 avril 2018) : 1505–17. http://dx.doi.org/10.1177/0969733018767248.

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Members of the Ethics and Public Policy Committee of the International Society of Nurses in Genetics prepared this article to assist nurses in interpreting the American Nurses Association (2015) Code of Ethics for Nurses with Interpretive Statements (Code) within the context of genetics/genomics. The Code explicates the nursing profession’s norms and responsibilities in managing ethical issues. The nearly ubiquitous application of genetic/genomic technologies in healthcare poses unique ethical challenges for nursing. Therefore, authors conducted literature searches that drew from various professional resources to elucidate implications of the code in genetic/genomic nursing practice, education, research, and public policy. We contend that the revised Code coupled with the application of genomic technologies to healthcare creates moral obligations for nurses to continually refresh their knowledge and capacities to translate genetic/genomic research into evidence-based practice, assure the ethical conduct of scientific inquiry, and continually develop or revise national/international guidelines that protect the rights of individuals and populations within the context of genetics/genomics. Thus, nurses have an ethical responsibility to remain knowledgeable about advances in genetics/genomics and incorporate emergent evidence into their work.
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Hanaei, Sara, Sina Abdollahzade, Alireza Khoshnevisan, Christopher K. Kepler et Nima Rezaei. « Genetic aspects of intervertebral disc degeneration ». Reviews in the Neurosciences 26, no 5 (1 octobre 2015) : 581–606. http://dx.doi.org/10.1515/revneuro-2014-0077.

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AbstractIntervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of variations, such as single nucleotide polymorphisms, which could play a significant role in the etiology of this disease. Besides, the interactions with environmental factors could make the role of genetic factors more complicated. Genetic variations in disc components could participate in developing degenerative disc disease through altering the normal homeostasis of discs. Gene polymorphisms in disc proteins (collagens I, II, III, IX, and XI), proteoglycans (aggrecan), cytokines (interleukins I, VI, and X), enzymes (matrix metalloproteinases II, III, and IX), and vitamin D receptor seem to play considerable roles in the pathology of this disease. There are also many other investigated genes that could somehow take part in the process. However, it seems that more studies are needed to clarify the exact role of genetics in IVDD.
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Hill, William G. « Sewall Wright and quantitative genetics ». Genome 31, no 1 (1 janvier 1989) : 190–95. http://dx.doi.org/10.1139/g89-033.

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Some aspects of Wright's great contribution to quantitative genetics and animal breeding are reviewed in relation to current research and practice. Particular aspects discussed are as follows: the utility of his definition of inbreeding coefficient in terms of the correlation of uniting gametes; the maintenance of genetic variation in the optimum model; the inter-relations between past and present animal-breeding practice and the shifting-balance theory of evolution.Key words: quantitative genetics, inbreeding coefficient, genetic variation, evolution.
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Maltsev, S. V., A. I. Safina et T. V. Mihajlova. « Гипофосфатемический рахит у детей — клинические и генетические аспекты, подходы к терапии ». Practical medicine 19, no 1 (2021) : 38–49. http://dx.doi.org/10.32000/2072-1757-2021-1-38-49.

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Hypophosphatemic rickets (phosphate-diabetes) is a group of diseases associated with a defect in the reabsorption of phosphates in the proximal tubules, manifested by phosphaturia, hypophosphatemia and rickets deformities of the skeleton bones. Phosphate-diabetes has different genetic variants that determine the nature and severity of clinical manifestations. X-linked dominant hypophosphatemic rickets occurs most often (in 50-90% of cases). For the diagnosis, along with clinical characteristics, an important role is assigned to the study of partial renal functions, with the determination of clearance, excreted fraction of calcium and phosphates, as well as other indicators of calcium-phosphorus metabolism. Molecular genetic research helps to determine the form of the disease. Therapy for hypophosphatemic rickets should be differentiated depending on the type of disease. The timely appointment of an adequate pathogenetic therapy helps to slow down the formation of rickety deformities of the skeleton, positive growth dynamics, and an increase in physical activity.
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Fomchenko, N. E., et E. V. Voropayev. « BIOLOGICAL ASPECTS OF DNA METHYLATION (literature review) ». Health and Ecology Issues, no 3 (28 septembre 2012) : 55–59. http://dx.doi.org/10.51523/2708-6011.2012-9-3-11.

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The molecular basis of hereditary pathology is now the most studied problem of medical and molecular genetics. The recent research shows that not only genetic factors may determine the development of pathological process, but also the so-called epigenetic factors including genetic and nongenetic changes in the expression of specific genes without corresponding structural changes in its nucleotide sequence. The role of the epigenetic regulation of gene activity based on abnormal methylation is assigned as one of the genetic causes of many cancers. Methylation is one of DNA modifications leading to a change in its structural and functional status, which variety of biological processes makes it subject of great interest for the study of the influence of the genome methylation on the fundamental processes in living cells.
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Wolf, Susan M. « Beyond “Genetic Discrimination” : Toward the Broader Harm of Geneticism ». Journal of Law, Medicine & ; Ethics 23, no 4 (1995) : 345–53. http://dx.doi.org/10.1111/j.1748-720x.1995.tb01376.x.

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The current explosion of genetic knowledge and the rapid proliferation of genetic tests has rightly provoked concern that we are approaching a future in which people will be labeled and disadvantaged based on genetic information. Indeed, some have already suffered harm, including denial of health insurance. This concern has prompted an outpouring of analysis. Yet almost all of it approaches the problem of genetic disadvantage under the rubric of “genetic discrimination.”This rubric is woefully inadequate to the task at hand. It ignores years of commentary on race and gender demonstrating the limits of antidiscrimination analysis as an analytic framework and corrective tool. Too much discussion of genetic disadvantage proceeds as if scholars of race and gender had not spent decades critiquing and developing antidiscrimination theory.Indeed, there are multiple links among race, gender, and genetics. Dorothy Roberts has discussed the historical links between racism and genetics, while she and others have begun to map connections between gender and genetics.
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Rothstein, Mark A. « Genetic Exceptionalism and Legislative Pragmatism ». Journal of Law, Medicine & ; Ethics 35, S2 (2007) : 59–65. http://dx.doi.org/10.1111/j.1748-720x.2007.00154.x.

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One of the most important and contentious policy issues surrounding genetics is whether genetic information should be treated separately from other medical information. The view that genetics raises distinct issues is what Thomas Murray labeled “genetic exceptionalism,” borrowing from the earlier term “HIV exceptional-ism.” The issue of whether the use of genetic information should be addressed separately from other health information is not merely an academic concern, however. Since the Human Genome Project began in 1990, nearly every state has enacted legislation prohibiting genetic discrimination in health insurance; two-thirds of the states have enacted laws prohibiting genetic discrimination in employment, and other state laws have been enacted dealing with genetic discrimination in life insurance, genetic privacy, and genetic testing. Bills in Congress also would prohibit genetic discrimination in health insurance and employment.
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Letov, Oleg. « ETHICAL ASPECTS OF THE DEVELOPMENT OF GENETICS : THE PROBLEM OF GENETIC EDITING ». Filosofiya Referativnyi Zhurnal, no 4 (2022) : 89–93. http://dx.doi.org/10.31249/rphil/2022.04.12.

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The review is devoted to the ethical problems of the development of genetic technologies. It is indicated that the introduction of modifications into the genome of agricultural animals to increase production volumes and obtain human food products with desired properties is a promising direction in biotechnology. The main disadvantage of classical transgenesis is the unpredictability of the site of integration of the transgene into the genome and the number of built-in copies. A new term has emerged, genetic editing, which, along with the goal of introducing a new quality (or removing an unwanted existing one), implies «do no harm». Obtaining a transgenic organism includes three stages: the creation of a gene construct, its introduction into the genome of the organism, analysis for transgenicity, and selection of modified organisms.
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Valeton, Ida. « Genetical Aspects of Supergene Ore Formation in South America ». Zentralblatt für Geologie und Paläontologie, Teil I 1985, no 9-10 (9 juillet 1986) : 1529–46. http://dx.doi.org/10.1127/zbl_geol_pal_1/1985/1986/1529.

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Fomchenko, N. E., E. V. Voropaev et S. P. Salivonchik. « MOLECULAR AND GENETIC ASPECTS IN STUDYING OF CARDIOVASCULAR PATOLOGY ». Health and Ecology Issues, no 2 (28 juin 2009) : 42–48. http://dx.doi.org/10.51523/2708-6011.2009-6-2-9.

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Molecular genetics researches have great value for understanding of an origin of illnesses and their mechanisms. Modern genetic technologies have given a new impulse in the decision of problems of treatment of hereditary illnesses and diseases of the multifactorial nature. One of actual problems of modern medicine is finding-out of molecular genetics bases of hereditary predisposition to cardiovascular diseases. The review is devoted to questions of the importance of carrying out molecular biology researches for studying a cardiovascular pathology.
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Letov, Oleg. « ETHICAL ASPECTS OF THE DEVELOPMENT OF GENETICS ». Filosofiya Referativnyi Zhurnal, no 3 (2022) : 42–49. http://dx.doi.org/10.31249/rphil/2022.03.08.

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The review is devoted to the ethical problems of the development of genetic technologies. It is indicated that the main scientific problem is to find mechanisms that ensure the humane activity of a geneticist. Genetic engineering, under the guise of a boon for patients, is most often used as a tool for geopolitical interests. The concentrated attention on medical procedures and genetic interventions that improve the health of the patient's body does not give a broad philosophical understanding of macrosocial phenomena. By maintaining the existing system of patenting and legal protection of patent rights, there will be no need for world technology leaders to threaten foreign policy opponents with military force. Nutrients can act on genes and alter genetic expression, thus changing the human phenotype.
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Ross, Lainie Friedman. « Predictive Genetic Testing of Children and the Role of the Best Interest Standard ». Journal of Law, Medicine & ; Ethics 41, no 4 (2013) : 899–906. http://dx.doi.org/10.1111/jlme.12099.

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The genetic testing and screening of children has been fraught with controversy since Robert Guthrie developed the bacterial inhibition assay to test for phenylketonuria and advocated for rapid uptake of universal newborn screening in the early 1960s. Today with fast and affordable mass screening of the whole genome on the horizon, the debate about when and in what scenarios children should undergo genetic testing and screening has gained renewed attention. United States (US) professional guidelines — both the American College of Medical Genetics (ACMG)/American Society of Human Genetics (ASHG) statement (1995) and the American Academy of Pediatrics (AAP) Statement on the genetic testing of children (2001) and the new AAP and ACMG joint policy statement (2013) and technical report (2013) — as well as the old UK guidelines by the Working Part of the Clinical Genetics Society (1994) and the new United Kingdom (UK) guidelines by the British Society of Human Genetics (BSHG) (2010) all give the same answer: genetic testing and screening should only be done if it is in the child’s best interest.
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Bishop, Kathleen Kirk. « Psychosocial Aspects of Genetic Disorders : Implications for Practice ». Families in Society : The Journal of Contemporary Social Services 74, no 4 (avril 1993) : 207–12. http://dx.doi.org/10.1177/104438949307400402.

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Generic disorders can potentially interfere with interpersonal relationships and normal social develop' ment as well as disrupt family life. As scientific and technological advances in medical genetics provide health professionals with a more comprehensive understanding of the origin, implications, and management of genetic disorders, professionals acquire expanded responsibilities. Social workers, who are often involved with individuals and families on a long-term basis, play an instrumental role in helping individuals and families make the necessary emotional and social adjustments following diagnosis of a genetic disease, understand the ramifications of the diagnosis, cope with the accompanying concerns, and find me appropriate services.
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Carter, Michele A. « Ethical Aspects of Genetic Testing ». Biological Research For Nursing 3, no 1 (juillet 2001) : 24–32. http://dx.doi.org/10.1177/109980040100300104.

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This article explores ethical concerns and emerging dilemmas associated with the proliferation of information resulting fromthe extraordinary advances in molecular genetics. It provides an overviewof the ethical and legal challenges associated with predictive testing for inherited disease currently being addressed in the literature. Finally, it offers a framework of ethical principles that can be used to guide nurses and other practitioners in the appropriate application of research findings to the clinical practice setting. The ethical guidelines of self-determination, benefit-burden ratio, and justice promulgated in The Belmont Report are interpreted in the new context of predictive genetic testing. The author concludes by discussing how to balance the technical imperative to advance genetic knowledge for the sake of human health with the ethical imperative to preserve the fundamental rights and liberties of both individuals and communities who are its recipients.
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Hecht, Jonathan L., et George L. Mutter. « Molecular and Pathologic Aspects of Endometrial Carcinogenesis ». Journal of Clinical Oncology 24, no 29 (10 octobre 2006) : 4783–91. http://dx.doi.org/10.1200/jco.2006.06.7173.

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Endometrial cancer is the most common gynecological malignancy, with 41,000 new cases projected in the United States for 2006. Two different clinicopathologic subtypes are recognized: the estrogen-related (type I, endometrioid) and the non–estrogen-related types (type II, nonendometrioid such as papillary serous and clear cell). The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy and p53 mutations. This article reviews the genetic aspects of endometrial carcinogenesis and progression. We will define the precursor lesion of type I endometrioid cancer and the role of genetics and estrogen in its progression.
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Osakabe, Masahiro (Mh )., Ryuji Uesugi et Koichi Goka. « Evolutionary Aspects of Acaricide-Resistance Development in Spider Mites ». Psyche : A Journal of Entomology 2009 (2009) : 1–11. http://dx.doi.org/10.1155/2009/947439.

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Although the development of acaricide resistance in spider mites is a long-standing issue in agricultural fields, recent problems with acaricide resistance may be characterized by the development of complex- and/or multiresistance to acaricides in distinct classes. Such complexity of resistance is not likely to be a single mechanism. Pesticide resistance involves the microevolution of arthropod pests, and population genetics underlies the evolution. In this review, we address the genetic mechanisms of acaricide resistance evolution. We discuss genetic diversity and linkage of resistance genes, relationships between mite habitat and dispersal, and the effect of dispersal on population genetic structure and the dynamics of resistance genes. Finally, we attempt to present a comprehensive view of acaricide resistance evolution and suggest risks under globalization as well as possible approaches to managing acaricide resistance evolution or emergence.
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Ferguson-Smith, Malcolm A. « John Hilton Edwards. 26 March 1928 — 11 October 2007 ». Biographical Memoirs of Fellows of the Royal Society 63 (janvier 2017) : 215–42. http://dx.doi.org/10.1098/rsbm.2017.0005.

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John Edwards was a human geneticist who pioneered the development of clinical genetics in Birmingham. His name is known to all in the field for his discovery in 1960 of trisomy 18, the second trisomic condition to be described in humans after trisomy 21 in Down syndrome in 1959. He was an astute clinician and recognized that if other human chromosome aberrations were to occur, they would be associated with a similar pattern of multiple malformations and handicap. His observation of a nine-week-old child with the provisional diagnosis of Ullich–Turner syndrome suggested this possibility, which was confirmed in samples taken by Edwards at autopsy. His early interest in genetic aspects of disease is evident from his study of Peutz–Jegher syndrome published in 1957. These and similar experiences led him to a varied career in genetics, which at that time seemed to have little place in the practice of medicine. His clinical interests were complemented by his research in population genetics, statistics, genetic linkage, gene mapping and comparative genetics. He was appointed Lecturer in Social Medicine in Birmingham in 1956 and almost all of the next 23 years were spent there as Senior Lecturer, Reader and, from 1967, Professor of Human Genetics. In 1979 he moved to Oxford to become Professor of Genetics in the Biochemistry Department. He retired in 1995 and continued to work on comparative genomics in collaboration with colleagues in Australia and New Zealand. He died in 2007 and is remembered as a kind physician and an outstanding diagnostician. An exceptional scientist, he had a most original mind and a keen wit and was a critical commentator on developments in science.
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Anderson, Gwen, et Mary Varney Rorty. « Key Points for Developing an International Declaration on Nursing, Human Rights, Human Genetics and Public Health Policy ». Nursing Ethics 8, no 3 (mai 2001) : 259–71. http://dx.doi.org/10.1177/096973300100800310.

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Human rights legislation pertaining to applications of human genetic science is still lacking at an international level. Three international human rights documents now serve as guidelines for countries wishing to develop such legislation. These were drafted and adopted by the United Nations Educational, Scientific and Cultural Organization, the Human Genome Organization, and the Council of Europe. It is critically important that the international nursing community makes known its philosophy and practice-based knowledge relating to ethics and human rights, and contributes to the globalization of genetics. Nurses have particular expertise because they serve in a unique role at grass roots level to mediate between genetic science and its application to public health policies and medical interventions. As a result, nurses worldwide need to focus a constant eye on human rights ideals and interpret these within social, cultural, economic and political contexts at national and local levels. The purpose of this article is to clarify and legitimate the need for an international declaration on nursing, human rights, human genetics and public health policy. Because nurses around the world are the professional workforce by which genetic health care services and genetic research protocols will be delivered in the twenty-first century, members of the discipline of nursing need to think globally while acting locally. Above all other disciplines involved in genetics, nursing is in a good position to articulate an expanded theory of ethics beyond the principled approach of biomedical ethics. Nursing is sensitive to cultural diversity and community values; it is sympathetic to and can introduce an ethic of caring and relational ethics that listen to and accommodate the needs of local people and their requirements for public health.
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Kibitov, А. О., et G. E. Мazo. « Genetic aspects of binge eating disorder Part 2. Molecular genetics and pharmacogenetic approaches ». Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 116, no 8 (2016) : 102. http://dx.doi.org/10.17116/jnevro201611681102-108.

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Durmaz, Asude Alpman, Emin Karaca, Urszula Demkow, Gokce Toruner, Jacqueline Schoumans et Ozgur Cogulu. « Evolution of Genetic Techniques : Past, Present, and Beyond ». BioMed Research International 2015 (2015) : 1–7. http://dx.doi.org/10.1155/2015/461524.

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Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given.
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Ramalho, Antonio Sérgio, et Roberto Benedito de Paiva e. Silva. « Community Genetics : a new discipline and its application in Brazil ». Cadernos de Saúde Pública 16, no 1 (janvier 2000) : 261–63. http://dx.doi.org/10.1590/s0102-311x2000000100029.

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Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development of community genetics is necessary in Brazil. The implementation of such programs in our country, especially for hemoglobinopathies, has been recommended by the World Health Organization and other international organizations. Apart from the need for and appeal of community genetics programs, some aspects require serious review. This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy
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