All Stories

  1. Facts, Challenges, Difficulties and Hopes in Single-Cell Biology: Physiopathological Studies

    Article • Single Cell Biology, January 2015, OMICS Publishing Group

    Federica Cariati, rossella tomaiuolo

  2. Molecular Analysis of Cluster Headache

    Article • Clinical Journal of Pain, January 2015, Wolters Kluwer Health

    rossella tomaiuolo

  3. What is the role of the non-coding regions of theCFTRgene in cystic fibrosis?

    Article • Expert Review of Respiratory Medicine, August 2013, Taylor & Francis

    rossella tomaiuolo

  4. Molecular and Functional Analysis of the Large 5′ Promoter Region of CFTR Gene Revealed Pathogenic Mutations in CF and CFTR-Related Disorders

    Article • Journal of Molecular Diagnostics, May 2013, Elsevier

    rossella tomaiuolo

  5. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2013, De Gruyter

    rossella tomaiuolo

  6. Congenital Diarrheal Disorders: An Updated Diagnostic Approach

    Article • International Journal of Molecular Sciences, March 2012, MDPI AG

    rossella tomaiuolo

  7. A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

    Article • Journal of Molecular Diagnostics, November 2011, Elsevier

    rossella tomaiuolo

  8. Nasal polyposis in atypical cystic fibrosis: A case report

    Article • International Journal of Pediatric Otorhinolaryngology Extra, December 2010, Elsevier

    Dr Elena Cantone, rossella tomaiuolo

  9. Congenital Diarrheal Disorders: Improved Understanding of Gene Defects Is Leading to Advances in Intestinal Physiology and Clinical Management

    Article • Journal of Pediatric Gastroenterology and Nutrition, February 2010, Wolters Kluwer Health

    rossella tomaiuolo

  10. Molecular diagnostics: between chips and customized medicine

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2010, De Gruyter

    rossella tomaiuolo

  11. Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype

    Article • Journal of Cystic Fibrosis, August 2006, Elsevier

    rossella tomaiuolo

  12. Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    rossella tomaiuolo

  13. Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: An extremely mild form ofCFTR dysfunction

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    rossella tomaiuolo

  14. Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation

    Article • Journal of Cystic Fibrosis, June 2004, Elsevier

    rossella tomaiuolo

  15. Molecular Diagnosis of Cystic Fibrosis: Comparison of Four Analytical Procedures

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2003, De Gruyter

    rossella tomaiuolo