All Stories

  1. Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, June 2015, Wiley

    Dr Francesco Benedicenti

  2. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

    Article • Nature Genetics, June 2015, Springer Science + Business Media

    Dr Francesco Benedicenti

  3. Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

    Article • PLoS ONE, April 2015, PLOS

    Dr Francesco Benedicenti

  4. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

    Article • American Journal of Medical Genetics Part A, May 2014, Wiley

    Dr Francesco Benedicenti

  5. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of K abuki Syndrome Patients

    Article • Human Mutation, April 2014, Wiley

    Dr Francesco Benedicenti, giuseppe merla

  6. Crisponi/CISS1 Syndrome

    Article • Human Mutation, March 2014, Wiley

    Dr Francesco Benedicenti, Dr Osama El assy

  7. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies

    Article • Gene, January 2014, Elsevier

    Dr Francesco Benedicenti

  8. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

    Article • Brain, October 2013, Oxford University Press (OUP)

    Dr Francesco Benedicenti

  9. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    Article • European Journal of Human Genetics, February 2013, Springer Science + Business Media

    Andrea Poretti, Dr Francesco Benedicenti, Dr Corrado Romano, Gian Marco Ghiggeri, Rita Barone

  10. Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

    Article • Case Reports in Genetics, January 2013, Hindawi Publishing Corporation

    Dr Francesco Benedicenti, Dr Francesca Malvestiti

  11. An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

    Article • Clinical Genetics, April 2012, Wiley

    Dr Francesco Benedicenti, Prof Corrado Angelini

  12. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

    Article • Human Mutation, January 2012, Hindawi Publishing Corporation

    Dr Regen Drouin, Dr Francesco Benedicenti, Mike Eccles

  13. Corrigendum

    Article • American Journal of Medical Genetics Part A, March 2011, Wiley

    Dr Francesco Benedicenti

  14. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

    Article • American Journal of Medical Genetics Part A, January 2010, Wiley

    Dr Francesco Benedicenti

  15. NovelTMEM67mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Article • Human Mutation, January 2010, Wiley

    Dr Francesco Benedicenti, Dr Corrado Romano, Gian Marco Ghiggeri

  16. ExpandingCEP290mutational spectrum in ciliopathies

    Article • American Journal of Medical Genetics Part A, October 2009, Wiley

    Dr Francesco Benedicenti, Professor Luciana Rigoli, Dr Corrado Romano, Gian Marco Ghiggeri

  17. Interesting suggestions about Yq deletions

    Article • Fertility and Sterility, January 2009, Elsevier

    Dr Francesco Benedicenti

  18. Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in theXPDgene

    Article • Human Mutation, December 2008, Wiley

    Dr Francesco Benedicenti

  19. Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy

    Article • American Journal of Medical Genetics, August 2003, Wiley

    Dr Francesco Benedicenti

  20. Adverse Effects of Prenatal Methimazole Exposure

    Article • Obstetrical & Gynecological Survey, June 2002, Wolters Kluwer Health

    Dr Francesco Benedicenti, PhD Antonio Addis

  21. Adverse effects of prenatal methimazole exposure

    Article • Teratology, January 2001, Wiley

    Dr Francesco Benedicenti, PhD Antonio Addis

  22. Down Syndrome and Parity

    Article • Public Health Genomics, January 1999, Karger Publishers

    Dr Francesco Benedicenti