Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Maria Angela La Rosa"'
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis
Autor:
Anna Paola Capra, Maria Angela La Rosa, Sara Briguori, Rosa Civa, Chiara Passarelli, Emanuele Agolini, Antonio Novelli, Silvana Briuglia
Publikováno v:
Genes, Vol 14, Iss 2, p 484 (2023)
Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant o
Externí odkaz:
https://doaj.org/article/423d210fc1134f668032a866b4fea914
Autor:
Anna Paola Capra, Alessio Ardizzone, Silvana Briuglia, Maria Angela La Rosa, Stefania Mondello, Michela Campolo, Emanuela Esposito
Publikováno v:
Biology, Vol 11, Iss 11, p 1608 (2022)
This study evaluated the association between the H1299R factor V (FV) variant (rs1800595) and recurrent pregnancy loss (RPL). Pubmed (MEDLINE) and Embase (OVID) bibliographic databases were searched from the inception to 31 May 2022 to identify suita
Externí odkaz:
https://doaj.org/article/c85531139ccd4a4ca2353b23dcfc5019
Autor:
Alessio Ardizzone, Anna Paola Capra, Stefania Mondello, Silvana Briuglia, Maria Angela La Rosa, Michela Campolo, Emanuela Esposito
Publikováno v:
Genes, Vol 13, Iss 6, p 1019 (2022)
Recurrent pregnancy loss (RPL) is defined as the loss of two or more pregnancies, affecting approximately 1 to 3% of women worldwide. Scientific data highlight a possible correlation between thrombophilic genetic variants and RPL. H1299R variant in t
Externí odkaz:
https://doaj.org/article/38d2c59f38cf4496bf2ec8ca3f982b32
Autor:
Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello, Silvia Beatrice Maitz, Mattia Gentile, Emanuela Ponzi, Paola Orsini, Anna Zilio, Annamaria Montaldi, Annapaola Calò, Anna Paola Capra, Silvana Briuglia, Maria Angela La Rosa, Lucia Grillo, Corrado Romano, Sebastiano Bianca, Michela Malacarne, Martina Busè, Maria Piccione, Lidia Larizza
Publikováno v:
Genes, Vol 13, Iss 5, p 780 (2022)
Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical
Externí odkaz:
https://doaj.org/article/0643c44da01a4031aa9145d86da615be
Autor:
Mariapaola Campisi, Gianluca Di Bella, Cesare De Gregorio, Rosalba De Sarro, Alfredo Luongo, Vittoria Greco, Veronica Vacirca, Alioto Luigi, Maria Angela La Rosa, Monia Magliozzi, Novelli Antonio, Briguglia Silvana
Publikováno v:
European Heart Journal Supplements. 24
Background Dilated cardiomyopathy is one of the most common cardiomyopathies that at the onset shows a with dysfunction, commonly expressed by the reduced ejection fraction (EF) and which can lead to heart transplantation. Cardiac "laminopathies" are
Autor:
Anna Paola Capra, Sara Briguori, Giuseppe Micciché, Maria Angela La Rosa, Emanuela Esposito, Silvana Briuglia
Publikováno v:
The FASEB Journal. 36
Autor:
Anna Paola Capra, Sara Briguori, Maria Angela La Rosa, Concetta Crisafulli, Silvana Briuglia, Marco Calabrò
Publikováno v:
Journal of Molecular Neuroscience. 71:1357-1367
Autism spectrum disorder (ASD) is a condition that includes a number of neurodevelopmental mental disorders. Recent genetic/genomic investigations have reported an increased prevalence of copy number variations (CNVs) in individuals with autism. Desp
Publikováno v:
Genetics in Medicine. 23:421-422
Autor:
Sara Manti, Eloisa Gitto, Giovanni Corsello, Edoardo Spina, Russel J. Reiter, Angela Alibrandi, Raffaele Falsaperla, Carmelo Salpietro, Roberta Granese, Antonella Palmara, Maria Angela La Rosa, Lucia Marseglia, Gabriella D'Angelo, Pietro Impellizzeri
Background Parturition induces considerable oxidative stress and many inflammatory mediators, such as high mobility group box 1 (HMGB1), are involved from the beginning of the pregnancy to birth. The aim of the present study was to evaluate serum cor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::682e6239a52c575447065ac73bb6cda0
http://hdl.handle.net/10447/402237
http://hdl.handle.net/10447/402237
Publikováno v:
Psychiatry Research. 297:113729
Autism spectrum disorder (ASD) is a heterogeneous condition linked to an anomalous neurodevelopment. Although the underlying causes of ASD are not well described, literature data strongly suggests a genetic component, with a complex inheritance patte