All Stories

  1. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II

    Article • FEBS Open Bio, February 2018, Wiley

    Dr Irene Bottillo

  2. CDK4 and familial melanoma

    Article • Clinical Genetics, November 2017, Wiley

    Professor Luca Stingeni, Dr Irene Bottillo

  3. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

    Article • Endocrine Connections, December 2014, Bioscientifica

    Dr Irene Bottillo

  4. An Additional Patient With 3q27.3 Microdeletion Syndrome

    Article • Journal of Child Neurology, July 2014, SAGE Publications

    Dr Irene Bottillo

  5. Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

    Article • Journal of Clinical Neuroscience, February 2014, Elsevier

    Dr Irene Bottillo

  6. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

    Article • BMC Research Notes, September 2013, Springer Science + Business Media

    Dr Irene Bottillo

  7. Pharmacogenetics in the Era of Next Generation Sequencing

    Article • Journal of Pharmacovigilance, January 2013, OMICS Publishing Group

    Dr Irene Bottillo

  8. Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

    Article • Neurogenetics, March 2011, Springer Science + Business Media

    Dr Irene Bottillo

  9. Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

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

    Dr Irene Bottillo

  10. Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

    Article • The American Journal of Human Genetics, August 2010, Elsevier

    Dr Irene Bottillo

  11. TBX2 gene duplication associated with complex heart defect and skeletal malformations

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

    Dr Irene Bottillo

  12. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi‐exon deletion

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

    Dr Irene Bottillo

  13. Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency

    Article • Journal of the Neurological Sciences, March 2010, Elsevier

    Dr Irene Bottillo

  14. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    Article • European Journal of Human Genetics, October 2009, Springer Science + Business Media

    Dr Irene Bottillo

  15. Germline and somatic NF1 mutations in sporadic and NF1‐associated malignant peripheral nerve sheath tumours

    Article • The Journal of Pathology, January 2009, Wiley

    Dr Irene Bottillo

  16. Array‐based comparative genomic hybridization in early‐stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF

    Article • Genes Chromosomes and Cancer, July 2008, Wiley

    Dr Irene Bottillo

  17. Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes

    Article • American Journal of Medical Genetics Part A, December 2007, Wiley

    Dr Irene Bottillo

  18. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

    Article • Journal of Medical Genetics, September 2007, BMJ

    Dr Irene Bottillo

  19. Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

    Article • American Journal of Medical Genetics Part A, March 2007, Wiley

    Dr Irene Bottillo

  20. NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    Article • The American Journal of Human Genetics, December 2005, Elsevier

    Dr Irene Bottillo

  21. Novel and recurrent mutations in theNF1 gene in Italian patients with neurofibromatosis type 1

    Article • Human Mutation, January 2004, Hindawi Publishing Corporation

    Dr Irene Bottillo