Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Silvia Vannelli"'
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:
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
Frontiers in Endocrinology, Vol 12 (2021)
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,
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:
Gianpaolo Di Rosa, Francesca Verna, Raffaele Buganza, Luisa de Sanctis, Silvia Vannelli, Daniele Tessaris, Alberto Borraccino, Maria Baffico, Giulia Vinci
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
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 predictiv
Autor:
Mohamad Maghnie, Federica Messa, Martina Scilipoti, Emanuele Miraglia del Giudice, Stefania Picariello, Lucia Quaglietta, Daniela Cioffi, Anna Grandone, Silvia Vannelli, Natascia Di Iorgi, Maria Parpagnoli, Mario Cirillo, Luisa De Sanctis, Pierluigi Marzuillo, Annalisa Gallizia, Giuseppe Cinalli, Silverio Perrotta, Claudia Santoro
Context Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and type of endocrine disorders in NF1-related OPGs are scarce. Objectives T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e346d485222cd704502939bfe671674
http://hdl.handle.net/11591/428589
http://hdl.handle.net/11591/428589
Autor:
Luisa de Sanctis, Federica Runfola, Antonio Andreacchio, Silvia Vannelli, Ilaria Mussinatto, Raffaele Buganza
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
BackgroundJaffe-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 have been de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9edd8f4533e2e5abd8e5fb059ae045a7
http://hdl.handle.net/2318/1798041
http://hdl.handle.net/2318/1798041
Autor:
Gabriela Berardi, G. Burgos, Elizeu Fagundes de Carvalho, Mariana K. Maxzud, Hortensia Cano, A.M. Bento, S. Loiola, Regina Maria Barretto Cicarelli, Vania Pereira, Carmen Tomas, Elius Paz-Cruz, Leonor Gusmão, Nádia Pinto, P. Brito, Cecilia Bobillo, Alberto Fernández, Nidia M. Modesti, María Gabriela García, Laura Díez-Juárez, Bianca Januario, Sandra Furfuro, Denilce R. Sumita, Silvia Vannelli, Valeria Cecilia Marcucci, M.L. Pontes
Publikováno v:
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Made available in DSpace on 2020-12-12T01:14:43Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-01 The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included in the Investigator Argus X-12 QS kit Qiage
Publikováno v:
Nutrients, Vol 12, Iss 1941, p 1941 (2020)
Nutrients
Volume 12
Issue 7
Nutrients
Volume 12
Issue 7
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
Autor:
Caterina Guiot, Giuseppe Migliaretti, Silvia Vannelli, Federica Cavallo, Ilaria Stura, Serena Ditaranto, Nazario Cappello, Patrizia Matarazzo
Recombinant GH has been offered to GH-deficient (GHD) subjects for more than 30 years, in order to improve height and growth velocity in children and to enhance metabolic effects in adults. The aim of our work is to describe the long-term effect of r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b9f498e78c6c6e7a5b8043dd704e0a
http://hdl.handle.net/2318/1676427
http://hdl.handle.net/2318/1676427
Autor:
Maria Baffico, David J. Bunyan, Emma-Jane Taylor, Adam A. Herridge, Sébastien Schmitt, Antonino Forabosco, Deborah J. Shears, Lorenzo Iughetti, Lucia Capone, Silvia Vannelli, Domenico A. Coviello
Leri-Weill dyschondrosteosis is a pseudoautosomal dominantly-inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d95b5d4af799b1c793b3eb3246d8b921
https://hdl.handle.net/11380/1105029
https://hdl.handle.net/11380/1105029