Search Results - "Ficcadenti, A."

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients by Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C.

“…The genetic basis of Rubinstein–Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide…”
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Bone density assessment in a cohort of pediatric patients affected by 22q11DS by Ficcadenti, A., Zallocco, F., Neri, R., Giovannini, L., Tirabassi, G., Balercia, G.

“…Objective Hypoparathyroidism and hypocalcemia are two of the most frequent clinical characteristics of 22q11-deletion syndrome (22q11DS). The aim of this study…”
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Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation by Annibali, R, Caponi, L, Morganti, A, Manna, M, Gabrielli, O, Ficcadenti, A

“…Our study aim is the evaluation of long-term effects of hematopoietic stem cell transplantation on Italian patients with severe Hunter syndrome. Four boys,…”
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Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects by Disabella, Eliana, Grasso, Maurizia, Marziliano, Nicola, Ansaldi, Silvia, Lucchelli, Claudia, Porcu, Emanuele, Tagliani, Marilena, Pilotto, Andrea, Diegoli, Marta, Lanzarini, Luca, Malattia, Clara, Pelliccia, Antonio, Ficcadenti, Anna, Gabrielli, Orazio, Arbustini, Eloisa

“…TGF-beta-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with…”
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Erythema multiforme following live attenuated trivalent measles-mumps-rubella vaccine by BERNARDINI, Maria Luisa, D'ANGELO, Gianfranco, OGGIANO, Nicola, CAMPANATI, Anna, FICCADENTI, Anna, COPPA, Giovanni Valentino, OFFIDANI, Annamaria

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Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form? by Gabrielli, O, Ficcadenti, A, Fabrizzi, G, Perri, P, Mercuri, A, Coppa, G V, Giorgi, P

“…We report on a male infant with oral, facial, digital, and skeletal anomalies in association with severe psychomotor delay. This may represent a new…”
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Malformation syndromes and deafness by Bonifazi, V, Gabrielli, O, Ciferri, L, Ficcadenti, A, Carloni, I, Giorgi, P L

“…Deafness is one of the most common clinical findings in patients affected by malformation syndromes. It may be congenital, neurosensory or transmissive in…”
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Fryns syndrome. Description of a case by Ficcadenti, A, Lorenzini, L, Brocani, P, Celani, P, Kantar, A, Chiaramoni, L, Gabrielli, O

“…We report on a female infant who presents a pattern of malformations including dysmorphic facies, Dandy-Walker anomaly, hypoplasia of the upper lobe of the…”
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