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Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.
Clin Genet. 2007 Jul;72(1):39-46. doi: 10.1111/j.1399-0004.2007.00825.x.
Clin Genet. 2007.
PMID: 17594398
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
Lucarelli M, Narzi L, Pierandrei S, Bruno SM, Stamato A, d'Avanzo M, Strom R, Quattrucci S.
Lucarelli M, et al. Among authors: stamato a.
Genet Med. 2010 Sep;12(9):548-55. doi: 10.1097/GIM.0b013e3181ead634.
Genet Med. 2010.
PMID: 20706124
Free article.
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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R.
Lucarelli M, et al. Among authors: stamato a.
Mol Med. 2015 Apr 21;21(1):257-75. doi: 10.2119/molmed.2014.00229.
Mol Med. 2015.
PMID: 25910067
Free PMC article.
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Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.
Schippa S, Iebba V, Santangelo F, Gagliardi A, De Biase RV, Stamato A, Bertasi S, Lucarelli M, Conte MP, Quattrucci S.
Schippa S, et al. Among authors: stamato a.
PLoS One. 2013 Apr 17;8(4):e61176. doi: 10.1371/journal.pone.0061176. Print 2013.
PLoS One. 2013.
PMID: 23613805
Free PMC article.
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