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Current Stem Cell Research & Therapy|April 20, 2013
Human amnion-derived cells: prospects for the treatment of lung diseasesAnnalucia Carbone, Valentina Paracchini, Stefano Castellani, et al.Journal of Medical Case Reports|November 2, 2016
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case reportFrancesca Cortini, Barbara Marinelli, Manuela Seia, et al.Journal of Human Genetics|August 5, 2016
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosisLetizia Straniero, Giulia Soldà, Lucy Costantino, et al.Vascular and Endovascular Surgery|February 11, 2017
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same FamilyFrancesca Cortini, Barbara Marinelli, Silvia Romi, et al.American Journal of Medical Genetics. Part A|March 19, 2011
An interactive computer program can effectively educate potential users of cystic fibrosis carrier testsCarlo Castellani, Sandra Perobelli, Vera Bianchi, et al.European Journal of Human Genetics : EJHG|August 30, 2007
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)Dario Degiorgio, Carla Colombo, Manuela Seia, et al.American Journal of Respiratory Cell and Molecular Biology|January 26, 2013
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator geneLucy Costantino, Damiana Rusconi, Giulia Soldà, et al.Annals of Human Genetics|June 22, 2010
CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countriesMaría D Ramos, Laia Masvidal, Javier Giménez, et al.Clinical Chemistry and Laboratory Medicine|September 5, 2009
Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator geneCaterina Mari, Francesca Bruno, Silvia Galbiati, et al.Gene|February 8, 2012
A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) geneAnna Diana, Riccardina Tesse, Angela M Polizzi, et al.Pageof 5