Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Silvana Briuglia"'
Autor:
Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background Pseudohypoparathyroidism (PHP) is caused by loss-of-function mutations at the GNAS gene (as in the PHP type 1A; PHP1A), de novo or inherited at heterozygous state, or by epigenetic alterations at the GNAS locus (as in the PHP1B).
Externí odkaz:
https://doaj.org/article/b3347a76c4a2470bb7a3e070a6b215ba
Autor:
Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia, Tommaso Aversa
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including
Externí odkaz:
https://doaj.org/article/ec11415db7554fc0be2355ae87a63da8
Autor:
Selenia Lorenza Curatola, Silvana Briuglia, Anna Paola Capra, Antonio Novelli, Tommaso Aversa, Malgorzata Wasniewska
Publikováno v:
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 109, Iss 2, Pp 1-5 (2021)
Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skeletal malformations including short stature, brachydactyly, with ulnar or radial deviation of the fingers, clinodactyly and early joint dysplasia, espec
Externí odkaz:
https://doaj.org/article/2a41f2ef7a72486086225fd8266f301f
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, Michela Campolo, Alessia Filippone, Emanuela Esposito, Silvana Briuglia
Publikováno v:
Biomedicines, Vol 10, Iss 5, p 940 (2022)
Rare diseases constitute a wide range of disorders thus defined for their low prevalence. However, taken together, rare diseases impact a considerable percentage of the world population, thus representing a public healthcare problem. In particular, n
Externí odkaz:
https://doaj.org/article/4d95d97461e04d3cad81a7aee8c963e2
Autor:
Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Since the establishment of chromosomal microarrays in clinical practice, many new microdeletion/microduplication syndromes have been identified, including 18q11.2 microdeletion. Chromosome 18q deletion syndrome is commonly classif
Externí odkaz:
https://doaj.org/article/e88af2154f7649ac8578bea29a98427a
Autor:
Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1190 (2021)
Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular
Externí odkaz:
https://doaj.org/article/85266ac91354400bba77ed6746278dbb
Autor:
Carole Le Coz, Brian E. Nolan, Melissa Trofa, Alicia M. Kamsheh, Mustafa K. Khokha, Saquib A. Lakhani, Antonio Novelli, Elaine H. Zackai, Kathleen E. Sullivan, Silvana Briuglia, Tricia R. Bhatti, Neil Romberg
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Located contiguously on the long arm of the second chromosome are gene paralogs encoding the immunoglobulin-family co-activation receptors CD28 and cytotoxic T-lymphocyte-associated protein 4 (CTLA4). CD28 and CTLA4 share the same B7 ligands yet each
Externí odkaz:
https://doaj.org/article/95a98da4b24f4d1281b27b42988a5c53
Autor:
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M. Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer
Publikováno v:
European Journal of Human Genetics, 31, 3, pp. 345-352
European Journal of Human Genetics, 31, 345-352
European Journal of Human Genetics, 31, 345-352
The neuronal SNARE complex drives synaptic vesicle exocytosis. Therefore, one of its core proteins syntaxin 1A (STX1A) has long been suspected to play a role in neurodevelopmental disorders. We assembled eight individuals harboring ultra rare variant
Publikováno v:
Calabró, M, Briuglia, S, Crisafulli, C & Drago, A 2022, ' Body weight changes and bipolar disorder : a molecular pathway analysis ', Pharmacogenetics and Genomics, vol. 32, no. 9, pp. 308-320 . https://doi.org/10.1097/FPC.0000000000000484
BACKGROUND: There is evidence suggesting a link between weight-related disorders and bipolar disorder (BD). The pathophysiology of the association includes psychological, social and psychotropic treatment-related variables, together with psychiatric