@article {3621,
	title = {"Blaschkoid dyspigmentation" in a child: don{\textquoteright}t forget fibroblast chromosomal analysis.},
	journal = {J Pediatr},
	volume = {166},
	year = {2015},
	month = {2015 Feb},
	pages = {490-90.e1},
	keywords = {Abnormalities, Multiple, Child, Preschool, Chromosomes, DNA, Female, Fibroblasts, Humans, Phenotype, Pigmentation Disorders},
	issn = {1097-6833},
	doi = {10.1016/j.jpeds.2014.10.028},
	author = {Gortani, Giulia and Faletra, Flavio and Bruno, Irene and Berti, Irene and Ventura, Alessandro}
}
@article {3517,
	title = {A girl with photosensitivity and hepatic steatosis.},
	journal = {J Pediatr},
	volume = {165},
	year = {2014},
	month = {2014 Jul},
	pages = {201-201.e1},
	keywords = {Child, Diagnosis, Differential, Fatty Liver, Female, Humans, Photosensitivity Disorders, Protoporphyria, Erythropoietic},
	issn = {1097-6833},
	doi = {10.1016/j.jpeds.2014.02.056},
	author = {Pavan, Matteo and Gortani, Giulia and Rubinato, Elisa and Faletra, Flavio and Pastore, Serena and Ventura, Alessandro}
}
@article {3529,
	title = {A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.},
	journal = {Gene},
	volume = {545},
	year = {2014},
	month = {2014 Jul 25},
	pages = {290-2},
	abstract = {<p>Osteogenesis imperfecta (OI) is a hereditary bone disease characterized by decreased bone density and multiple fractures, usually inherited in an autosomal dominant manner. Several gene encoding proteins related to collagen metabolism have been described in some cases of autosomal recessive OI (including CRTAP, LEPRE1, PPIB, FKBP65, SERPINF1, BMP1, WNT1, FKBP10). Recently, TMEM38B, a gene that encodes TRIC-B, a monovalent cation-specific channel involved in calcium flux from intracellular stores and in cell differentiation, has been associated with autosomal recessive OI. Here, we describe the second deletion-mutation involving the TMEM38B gene in an 11 year-old Albanian female with a clinical phenotype of OI, born to parents with suspected consanguinity. SNP array analysis revealed a homozygous region larger than 2 Mb that overlapped with the TMEM38B locus and was characterized by a 35 kb homozygous deletion involving exons 1 and 2 of TMEM38B gene.</p>},
	keywords = {Child, Chromosomes, Human, Pair 19, DNA Mutational Analysis, Exons, Female, Genes, Recessive, Homozygote, Humans, Ion Channels, Osteogenesis Imperfecta, Sequence Deletion},
	issn = {1879-0038},
	doi = {10.1016/j.gene.2014.05.028},
	author = {Rubinato, Elisa and Morgan, Anna and D{\textquoteright}Eustacchio, Angela and Pecile, Vanna and Gortani, Giulia and Gasparini, Paolo and Faletra, Flavio}
}
@article {3482,
	title = {Procedural sedation for intra-articular corticosteroid injections in juvenile idiopathic arthritis (JIA) should be a standard of care.},
	journal = {Eur J Pediatr},
	volume = {173},
	year = {2014},
	month = {2014 Jun},
	pages = {831},
	keywords = {Arthritis, Juvenile, Conscious Sedation, Female, Glucocorticoids, Humans, Male, Pain, Patient Preference},
	issn = {1432-1076},
	doi = {10.1007/s00431-013-2246-6},
	author = {Pastore, Serena and Gortani, Giulia and Taddio, Andrea and Barbi, Egidio}
}
@article {1951,
	title = {A child with edema, lower limb deformity, and recurrent diarrhea.},
	journal = {J Pediatr},
	volume = {161},
	year = {2012},
	month = {2012 Dec},
	pages = {1177},
	keywords = {Bone Retroversion, Capsule Endoscopy, Child, Preschool, Diarrhea, Edema, Humans, Knee Joint, Lymphangiectasis, Intestinal, Lymphedema, Male, Recurrence},
	issn = {1097-6833},
	doi = {10.1016/j.jpeds.2012.06.022},
	author = {Gortani, Giulia and Maschio, Massimo and Ventura, Alessandro}
}
@article {1763,
	title = {Two lumens, one diagnosis.},
	journal = {J Pediatr},
	volume = {159},
	year = {2011},
	month = {2011 Sep},
	pages = {511},
	keywords = {Capsule Endoscopy, Child, Preschool, Gastrointestinal Hemorrhage, Humans, Male, Meckel Diverticulum, Recurrence},
	issn = {1097-6833},
	doi = {10.1016/j.jpeds.2011.04.041},
	author = {Pastore, Serena and Gortani, Giulia and Maschio, Massimo and Di Leo, Grazia and Ventura, Alessandro}
}
