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Clinical Genetics

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  1. Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal ab...

    Authors: Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella and Nenad Bukvic
    Citation: Italian Journal of Pediatrics 2020 46:74
  2. Coarctation of the aorta (CoA), presenting with local stenosis of the aorta is involved in many cardiovascular processes. However, there has been little research on the mechanism of coarctation of the aorta.

    Authors: Siyu Ma, Junqiang Zheng, Yang Xu, Zhaocong Yang, Yu Zhu, Xiaoqi Su and Xuming Mo
    Citation: Italian Journal of Pediatrics 2020 46:63
  3. Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phen...

    Authors: Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Enrica De Luca, Bruno Marino and Paolo Versacci
    Citation: Italian Journal of Pediatrics 2020 46:61
  4. 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 neurofi...

    Authors: Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio and Luisa de Sanctis
    Citation: Italian Journal of Pediatrics 2020 46:58
  5. Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder with variable clinical features and cancer predisposition. In this study, we aim to characterize the clinical features and molecular defects o...

    Authors: Ruixue Wang, Yongmei Xiao, Dan Li, Hui Hu, Xiaolu Li, Ting Ge, Ronghua Yu, Yizhong Wang and Ting Zhang
    Citation: Italian Journal of Pediatrics 2020 46:55
  6. Children with Down syndrome (DS) show a high susceptibility to recurrent infections (RI), caused by immune defects and abnormalities of the airways. Our goal was to investigate the effects of Pidotimod on RI p...

    Authors: Diletta Valentini, Chiara Di Camillo, Nadia Mirante, Valentina Marcellini, Rita Carsetti and Alberto Villani
    Citation: Italian Journal of Pediatrics 2020 46:31
  7. Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhy...

    Authors: Itaru Hayakawa, Yuichi Abe, Hiroshi Ono and Masaya Kubota
    Citation: Italian Journal of Pediatrics 2019 45:165
  8. Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epileps...

    Authors: Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino and Raffaele Falsaperla
    Citation: Italian Journal of Pediatrics 2019 45:159
  9. Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvemen...

    Authors: Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno and Paolo Picco
    Citation: Italian Journal of Pediatrics 2019 45:148
  10. 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and ...

    Authors: Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro and Raffaele Falsaperla
    Citation: Italian Journal of Pediatrics 2019 45:138
  11. Procedural sedation is increasingly needed in pediatrics. Although different drugs or drugs association are available, which is the safest and most efficient has yet to be defined, especially in syndromic chil...

    Authors: Matteo Trevisan, Sara Romano, Egidio Barbi, Irene Bruno, Flora Maria Murru and Giorgio Cozzi
    Citation: Italian Journal of Pediatrics 2019 45:119
  12. Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in Chinese children associated with SFTPC mutat...

    Authors: Da Hong, Dan Dai, Jing Liu, Congcong Zhang, Tingting Jin, Yanyan Shi, Gaoli Jiang, Mei Mei, Libo Wang and Liling Qian
    Citation: Italian Journal of Pediatrics 2019 45:117
  13. Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be m...

    Authors: Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti…
    Citation: Italian Journal of Pediatrics 2019 45:72
  14. Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the a...

    Authors: Diana Rojas Malaga, Sandra Leistner-Segal and Ana Carolina Brusius-Facchin
    Citation: Italian Journal of Pediatrics 2019 45:60