Search Results - "Vannelli, Silvia"

Growth Assessment in Preterm Children from Birth to Preschool Age by Ceratto, Simone, Savino, Francesco, Vannelli, Silvia, De Sanctis, Luisa, Giuliani, Francesca

“…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…”
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Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma by Vannelli, Silvia, Buganza, Raffaele, Runfola, Federica, Mussinatto, Ilaria, Andreacchio, Antonio, de Sanctis, Luisa

“…Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the…”
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Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height by Libraro, Annachiara, D'Ascanio, Vito, Cappa, Marco, Chiarito, Mariangela, Digilio, Maria Cristina, Einaudi, Silvia, Grandone, Anna, Maghnie, Mohamad, Mazzanti, Laura, Mussa, Alessandro, Patti, Giuseppa, Scarano, Emanuela, Spinuzza, Antonietta, Vannelli, Silvia, Wasniewska, Malgorzata Gabriela, Ferrero, Giovanni Battista, Faienza, Maria Felicia

“…Growth impairment is a common manifestation in Noonan syndrome (NS). Recombinant human GH (rhGH) treatment has been shown to increase growth and adult height…”
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SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators by Vannelli, Silvia, Baffico, Maria, Buganza, Raffaele, Verna, Francesca, Vinci, Giulia, Tessaris, Daniele, Di Rosa, Gianpaolo, Borraccino, Alberto, de Sanctis, Luisa

“…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…”
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature by Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico A.

“…Leri–Weill dyschondrosteosis is a pseudoautosomal dominantly‐inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions,…”
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Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis by Fanelli, Antonella, Vannelli, Silvia, Babu, Deepak, Mellone, Simona, Cucci, Alessia, Monzani, Alice, Al Essa, Wael, Secco, Andrea, Follenzi, Antonia, Bellone, Simonetta, Prodam, Flavia, Giordano, Mara

“…Background SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non‐coding elements (CNEs) represent one of the most…”
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Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency by Bruzzi, Patrizia, Vannelli, Silvia, Scarano, Emanuela, Di Iorgi, Natascia, Parpagnoli, Maria, Salerno, MariaCarolina, Pitea, Marco, Elisabeth Street, Maria, Secco, Andrea, Andrea Trettene, Adolfo, Wasniewska, Malgorzata, Corciulo, Nicola, Tornese, Gianluca, Felicia Faienza, Maria, Delvecchio, Maurizio, Filomena Madeo, Simona, Iughetti, Lorenzo

“…This Italian survey aims to evaluate real-life long-term efficacy and safety of recombinant human growth hormone (rhGH) therapy in children with short stature…”
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Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study by Santoro, Claudia, Perrotta, Silverio, Picariello, Stefania, Scilipoti, Martina, Cirillo, Mario, Quaglietta, Lucia, Cinalli, Giuseppe, Cioffi, Daniela, Di Iorgi, Natascia, Maghnie, Mohamad, Gallizia, Annalisa, Parpagnoli, Maria, Messa, Federica, De Sanctis, Luisa, Vannelli, Silvia, Marzuillo, Pierluigi, Miraglia Del Giudice, Emanuele, Grandone, Anna

“…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…”
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Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency by Babu, Deepak, Vannelli, Silvia, Fanelli, Antonella, Mellone, Simona, Baffico, Ave Maria, Corrado, Lucia, Essa, Wael Al, Grandone, Anna, Bellone, Simonetta, Monzani, Alice, Vinci, Giulia, De Sanctis, Luisa, Stuppia, Liborio, Prodam, Flavia, Giordano, Mara

“…SHOX haploinsufficiency causes 70-90% of Léri-Weill dyschondrosteosis (LWD) and 2-10% of idiopathic short stature (ISS). Deletions removing the entire gene or…”
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Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency by Babu, Deepak, Vannelli, Silvia, Fanelli, Antonella, Mellone, Simona, Baffico, Ave Maria, Corrado, Lucia, Essa, Wael Al, Grandone, Anna, Bellone, Simonetta, Monzani, Alice, Vinci, Giulia, De Sanctis, Luisa, Stuppia, Liborio, Prodam, Flavia, Giordano, Mara

“…Abstract SHOX haploinsufficiency causes 70–90% of Léri-Weill dyschondrosteosis (LWD) and 2–10% of idiopathic short stature (ISS). Deletions removing the entire…”
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Detection of a novel 16.3 variant allele at locus DYS533 in R1b males inhabiting southern South America: A 19-nucleotide insertion explains its origin based on Sanger sequencing results by Sala, Andrea, Marino, Miguel, Guinudinik, Alejandra, Marcucci, Valeria, Cano, Hortensia, Rey, Silvia Vannelli, Bobillo, Cecilia, Castagnola, Josefina, Garrigós-Calivares, Lucía, Ginart, Santiago, Caputo, Mariela, Corach, Daniel

“…We typed 1541 Y-STR haplotypes from reference samples along forensic casework investigations. In three haplotypes, we detected a variant allele designed as…”
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Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study by Pinto, Nádia, Pereira, Vânia, Tomas, Carmen, Loiola, Silvia, Carvalho, Elizeu F., Modesti, Nidia, Maxzud, Mariana, Marcucci, Valeria, Cano, Hortensia, Cicarelli, Regina, Januario, Bianca, Bento, Ana, Brito, Pedro, Burgos, Germán, Paz-Cruz, Elius, Díez-Juárez, Laura, Vannelli, Silvia, Pontes, Maria de Lurdes, Berardi, Gabriela, Furfuro, Sandra, Fernandez, Alberto, Sumita, Denilce, Bobillo, Cecilia, García, Maria Gabriela, Gusmão, Leonor

“…•The GHEP-ISFG organized a collaborative study to estimate mutation rates of 12 X-STRs.•Data were collected from 16 laboratories for 1,612…”
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Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy by Iughetti, Lorenzo, Vannelli, Silvia, Street, Maria Elisabeth, Pirazzoli, Piero, Bertelloni, Silvano, Radetti, Giorgio, Capone, Lucia, Stasiowska, Barbara, Mazzanti, Laura, Gastaldi, Roberto, Maggio, Maria Cristina, Predieri, Barbara

“…Mutations of the short stature homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been…”
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Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients by Morcaldi, Guido, Clementi, Maurizio, Lama, Giuliana, Gabrielli, Orazio, Vannelli, Silvia, Virdis, Raffaele, Vivarelli, Rossella, Boero, Silvio, Bonioli, Eugenio

“…Neurofibromatosis Type 1 (NF1) is a common autosomal dominant disorder characterized by high penetrance, widely variable expressivity and occurrence of…”
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Combined therapy with insulin and growth hormone in 17 patients with type-1 diabetes and growth disorders by Zucchini, Stefano, Iafusco, Dario, Vannelli, Silvia, Rabbone, Ivana, Salzano, Giuseppina, Pozzobon, Gabriella, Maghnie, Mohamad, Cherubini, Valentino, Bizzarri, Carla, Bonfanti, Riccardo, D'Annunzio, Giuseppe, Lenzi, Lorenzo, Maggio, Maria Cristina, Marigliano, Marco, Scaramuzza, Andrea, Tumini, Stefano, Iughetti, Lorenzo

“…Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to…”
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Main problems associated with bone age and maturity evaluation by Benso, L, Vannelli, S, Pastorin, L, Angius, P, Milani, S

“…In scientific papers, skeletal maturation-expressed as bone maturity scores or bone age-is often used as a quantifiable variable similar to height or weight…”
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