Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Silvia Vannelli"'
Autor:
Patrizia Bruzzi, Silvia Vannelli, Emanuela Scarano, Natascia Di Iorgi, Maria Parpagnoli, MariaCarolina Salerno, Marco Pitea, Maria Elisabeth Street, Andrea Secco, Adolfo Andrea Trettene, Malgorzata Wasniewska, Nicola Corciulo, Gianluca Tornese, Maria Felicia Faienza, Maurizio Delvecchio, Simona Filomena Madeo, Lorenzo Iughetti
Publikováno v:
Endocrine Connections, Vol 12, Iss 7, Pp 1-10 (2023)
Objective: This Italian survey aims to evaluate real-life long-term efficac y and safety of recombinant human growth hormone (rhGH) therapy in children wit h short stature homeobox-containing gene deficiency disorders (SHOX-D) and to id entify potent
Externí odkaz:
https://doaj.org/article/82d6fe2bd57c403b9090fe00f9ba81ab
Autor:
Silvia Vannelli, Maria Baffico, Raffaele Buganza, Francesca Verna, Giulia Vinci, Daniele Tessaris, Gianpaolo Di Rosa, Alberto Borraccino, Luisa de Sanctis
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Abstract Background The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be
Externí odkaz:
https://doaj.org/article/2c020abf9cf24ccaa3634053f081c907
Autor:
Antonella Fanelli, Silvia Vannelli, Deepak Babu, Simona Mellone, Alessia Cucci, Alice Monzani, Wael Al Essa, Andrea Secco, Antonia Follenzi, Simonetta Bellone, Flavia Prodam, Mara Giordano
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Background SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non‐coding elements (CNEs) represent one of the most frequent cause of SHOX‐haploinsufficiency. During the diagnostic workflow deletions/
Externí odkaz:
https://doaj.org/article/0809b76504b14cf68a465c985fbba9f8
Autor:
Annachiara Libraro, Vito D’Ascanio, Marco Cappa, Mariangela Chiarito, Maria Cristina Digilio, Silvia Einaudi, Anna Grandone, Mohamad Maghnie, Laura Mazzanti, Alessandro Mussa, Giuseppa Patti, Emanuela Scarano, Antonietta Spinuzza, Silvia Vannelli, Malgorzata Gabriela Wasniewska, Giovanni Battista Ferrero, Maria Felicia Faienza
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectivesGrowth impairment is a common manifestation in Noonan syndrome (NS). Recombinant human GH (rhGH) treatment has been shown to increase growth and adult height (AH) in a few studies. We aimed to evaluate the growth trajectory towards the AH,
Externí odkaz:
https://doaj.org/article/db32319567be40a49ba047ac6fda8813
Autor:
Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio, Luisa de Sanctis
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Abstract Background Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 ha
Externí odkaz:
https://doaj.org/article/a648f22bcf7b4973ab43e8a207d2f850
Publikováno v:
Nutrients, Vol 12, Iss 7, p 1941 (2020)
Preterm infant growth is a major health indicator and needs to be monitored with an appropriate growth curve to achieve the best developmental and growth potential while avoiding excessive caloric intake that is linked to metabolic syndrome and hyper
Externí odkaz:
https://doaj.org/article/f58ca2360b0b4eb68ddbfffc7730a351
Akademický článek
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Autor:
Andrea Sala, Miguel Marino, Alejandra Guinudinik, Valeria Marcucci, Hortensia Cano, Silvia Vannelli Rey, Cecilia Bobillo, Josefina Castagnola, Lucía Garrigós-Calivares, Santiago Ginart, Mariela Caputo, Daniel Corach
Publikováno v:
Forensic Science International: Genetics. 62:102789
We typed 1541 Y-STR haplotypes from reference samples along forensic casework investigations. In three haplotypes, we detected a variant allele designed as 16.3 at locus DYS533. This was confirmed by amplification using two commercial kits. Sanger se
Autor:
Mara Giordano, Anna Grandone, Silvia Vannelli, Lucia Corrado, Flavia Prodam, Giulia Vinci, Simonetta Bellone, Liborio Stuppia, Antonella Fanelli, Deepak Babu, Ave Maria Baffico, Simona Mellone, Alice Monzani, Wael Al Essa, Luisa De Sanctis
Publikováno v:
European Journal of Human Genetics
SHOX haploinsufficiency causes 70–90% of Léri-Weill dyschondrosteosis (LWD) and 2–10% of idiopathic short stature (ISS). Deletions removing the entire gene or enhancers and point mutations in the coding region represent a well-established cause
Autor:
Deepak Babu, Antonella Fanelli, Alessia Cucci, Antonia Follenzi, Alice Monzani, Wael Al Essa, Mara Giordano, Flavia Prodam, Simonetta Bellone, Andrea Secco, Simona Mellone, Silvia Vannelli
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Background SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non‐coding elements (CNEs) represent one of the most frequent cause of SHOX‐haploinsufficiency. During the diagnostic workflow deletions/duplicati