Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Deborah Lo Giacco"'
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Akademický článek
X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.
Autor: Chiara Chianese, Adam C Gunning, Claudia Giachini, Fabrice Daguin, Giancarlo Balercia, Elisabet Ars, Deborah Lo Giacco, Eduard Ruiz-Castañé, Gianni Forti, Csilla Krausz
Publikováno v: PLoS ONE, Vol 9, Iss 6, p e97746 (2014)
INTRODUCTION:Spermatogenesis is a highly complex process involving several thousand genes, only a minority of which have been studied in infertile men. In a previous study, we identified a number of Copy Number Variants (CNVs) by high-resolution arra
Externí odkaz: https://doaj.org/article/38b9a7db1f544d33b8954ac3a903d4f9
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2
Akademický článek
High resolution X chromosome-specific array-CGH detects new CNVs in infertile males.
Autor: Csilla Krausz, Claudia Giachini, Deborah Lo Giacco, Fabrice Daguin, Chiara Chianese, Elisabet Ars, Eduard Ruiz-Castane, Gianni Forti, Elena Rossi
Publikováno v: PLoS ONE, Vol 7, Iss 10, p e44887 (2012)
The role of CNVs in male infertility is poorly defined, and only those linked to the Y chromosome have been the object of extensive research. Although it has been predicted that the X chromosome is also enriched in spermatogenesis genes, no clinicall
Externí odkaz: https://doaj.org/article/d7705a593414440b9d306e9bbe9dbbcb
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5
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory
Autor: Josvany Sánchez-Curbelo, Lluís Bassas, Osvaldo Rajmil, Deborah Lo Giacco, Eduard Ruiz-Castañé, Csilla Krausz, Elisabet Ars, Alvaro Vives, Joaquim Sarquella, Patricia Ruiz, Chiara Chianese, Rafael Oliva
Publikováno v: EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive v
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1631a5b7125df9dceaadd743197a4fd
https://doi.org/10.1038/ejhg.2013.253
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6
High resolution X chromosome-specific array-CGH detects new CNVs in infertile males
Autor: Gianni Forti, Chiara Chianese, Fabrice Daguin, Eduard Ruiz-Castañé, Elena Rossi, Deborah Lo Giacco, Claudia Giachini, Elisabet Ars, Csilla Krausz
Publikováno v: PLoS ONE
PLoS ONE, Vol 7, Iss 10, p e44887 (2012)
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universitat Politècnica de Catalunya (UPC)
Context: The role of CNVs in male infertility is poorly defined, and only those linked to the Y chromosome have been the object of extensive research. Although it has been predicted that the X chromosome is also enriched in spermatogenesis genes, no
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7932a22669f0fbd75eeb8d151724b295
https://pubmed.ncbi.nlm.nih.gov/23056185
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7
ESR1 promoter polymorphism is not associated with nonsyndromic cryptorchidism
Autor: Eduard Ruiz-Castañé, Osvaldo Rajmil, Patricia Ruiz, José Jorge Galán, Deborah Lo Giacco, J. Caffaratti, Elisabet Ars, Lluís Bassas, E. Guarducci, Csilla Krausz
Publikováno v: Fertility and sterility. 95(1)
The ESR1 promoter microsatellite (TA) n was reported as a potential functional polymorphism. In a case–control study, we were unable to demonstrate any association between (TA) n and nonsyndromic cryptorchidism in Italian and Spanish study populati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c6096df9c0068e0c5bf7d328af3cdd3
https://pubmed.ncbi.nlm.nih.gov/20887985
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