Lidia Larizza

Lidia Larizza is currently a Professor of medical genetics at the Medical Faculty; Director of the Post-Lauream School in Medical Genetics, University of Milan; Research Director of the Laboratory of Human Molecular Cytogenetics and Medical Genetics, Istituto Auxologico Italiano, Milan. She also serves as the President of the European Cytogeneticists Association (ECA), and a Member of Società Italiana Genetica Umana (SIGU) Board. Larizza is also the Chair of the Medical Sciences Committee of the University of Milan for Research and Technological Transfer. Previously, she served as the President of Associazione Italiana Citogenetica Medica (AICM) for the period from 1995 to1997. Larizza is a Board Member of ECA since its foundation in 1987, the first Vice President of ECA since 2000, and the President of the Fourth European Cytogenetics Conference (FECC) held in Bologna, in September 2003. She is the Chairperson of COST ACTION B19 on “Molecular Cytogenetics of Solid Tumors” (2000–2006), and Coordinator of SIGU Workgroup of “Oncological Genetics” (1998–2006). She received a Ph.D. degree (cum laude) in medicine from Pavia University in 1968. Larizza was a Research Fellow at the Department of Genetics, Stanford University, in 1973, and a Guest Scientist at DKFZ, Institute of Immunology and Genetics, Heidelberg, Germany, during 1982–1983. Her main research interests include chromosomal instability syndromes predisposing to cancer; genomic instability and cancer; cytogenetics and cytogenomics of brain tumors (pituitary adenomas, glioma); genomic diseases; microdeletion/duplication syndromes. She authored more than 160 publications in peer-reviewed journals and 15 monographs.

Biography Updated on 17 June 2008

Personal Home Page

http://www.biologia.uniba.it/eca/offices.html

Articles in Scholarly Journals [Incomplete List]

  1. Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases
    American Journal of Medical Genetics Part A, vol. 143A, no. 18, pp. 2200–2203, 2007
  2. Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes
    European Journal of Pediatrics, vol. 167, no. 2, pp. 175–181, 2007
  3. Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
    Neurogenetics, vol. 8, no. 3, pp. 169–178, 2007
  4. High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints
    Genomics, vol. 90, no. 5, pp. 567–573, 2007
  5. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL
    Genetics in Medicine, vol. 9, no. 3, pp. 188–194, 2007
  6. Disruption of Friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis
    Clinical Genetics, vol. 71, no. 3, pp. 195–204, 2007
  7. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
    Clinical Genetics, vol. 72, no. 2, pp. 98–108, 2007
  8. Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome
    Journal of Medical Genetics, vol. 44, no. 4, pp. 257–263, 2007
  9. BMC Medical Genetics, vol. 8, no. 1, p. 4, 2007
  10. Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study
    Blood, vol. 107, no. 9, pp. 3463–3468, 2006
  11. BMC Medical Genetics, vol. 7, no. 1, p. 77, 2006
  12. Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region
    Journal of Medical Genetics, vol. 43, no. 8, pp. e39–e39, 2006
  13. 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
    Journal of Medical Genetics, vol. 44, no. 1, pp. e60–e60, 2006
  14. Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
    Neurogenetics, vol. 7, no. 1, pp. 59–66, 2006
  15. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
    Human Molecular Genetics, vol. 16, no. 3, pp. 254–264, 2006
  16. Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines
    Oncogene, vol. 25, no. 10, Article ID 1209177, 12 pages, 2006
  17. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    Nature Genetics, vol. 38, no. 5, Article ID ng1779, 2 pages, 2006
  18. Piebald Trait: Implication of kit Mutation on In Vitro Melanocyte Survival and on the Clinical Application of Cultured Epidermal Autografts
    Journal of Investigative Dermatology, vol. 127, no. 3, Article ID 5700639, 10 pages, 2006
  19. Distinct expression pattern of microtubule-associated protein/microtubule affinity-regulating kinase 4 in differentiated neurons
    Neuroscience, vol. 143, no. 1, pp. 83–94, 2006
  20. Prenatal diagnosis of ade novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs
    Prenatal Diagnosis, vol. 26, no. 6, pp. 565–570, 2006
  21. Rothmund–Thomson syndrome and RECQL4 defect: Splitting and lumping
    Cancer Letters, vol. 232, no. 1, pp. 107–120, 2006
  22. STI 571 inhibition effect on KIT-mediated signal transduction cascade
    Experimental Hematology, vol. 33, no. 6, pp. 682–688, 2005
  23. Imatinib mesylate in the treatment of Core Binding Factor leukemias with KIT mutationsA report of three cases
    Leukemia Research, vol. 29, no. 4, pp. 397–400, 2005
  24. Trisomy 15q25.2-qter in an autistic child: Genotype-phenotype correlations
    American Journal of Medical Genetics Part A, vol. 133A, no. 2, pp. 184–188, 2005
  25. Uncommon -mediated NF1 microdeletion with a breakpoint inside the gene
    Genomics, vol. 85, no. 2, pp. 273–279, 2005
  26. Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses
    Cancer Genetics and Cytogenetics, vol. 161, no. 2, pp. 140–145, 2005
  27. The Kasumi-1 cell line: a t(8;21)-kit mutant model for acute myeloid leukemia
    Leukemia & Lymphoma, vol. 46, no. 2, pp. 247–255, 2005
  28. Germline mosaicism in Rett syndrome identified by prenatal diagnosis
    Clinical Genetics, vol. 67, no. 3, pp. 258–260, 2005
  29. High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy
    Endocrine Related Cancer, vol. 12, no. 4, pp. 867–874, 2005
  30. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
    Journal of Medical Genetics, vol. 41, no. 1, pp. 35–41, 2004
  31. FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour
    Journal of Medical Genetics, vol. 41, no. 7, pp. e90–e90, 2004
  32. Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis
    The Hematology Journal, vol. 5, no. 3, Article ID 6200348, 2 pages, 2004
  33. Unbalanced segregation of a complex four-break 5q23–31 insertion in the 5p13 band in a malformed child
    European Journal of Human Genetics, vol. 12, no. 6, Article ID 5201150, 4 pages, 2004
  34. Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions
    Human Genetics, vol. 115, no. 1, pp. 69–80, 2004
  35. Smith-Magenis syndrome and growth hormone deficiency
    European Journal of Pediatrics, vol. 163, no. 7, 2004
  36. Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis
    International Journal of Cancer, vol. 107, no. 3, pp. 493–497, 2003
  37. RNA processing defects of the helicase geneRECQL4 in a compound heterozygous Rothmund-Thomson patient
    American Journal of Medical Genetics, vol. 120A, no. 3, pp. 395–399, 2003
  38. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)
    American Journal of Medical Genetics, vol. 122A, no. 3, pp. 261–265, 2003
  39. Identification of two novel RECQL4 exonic SNPs and genomic characterization of the IVS12 minisatellite
    Journal of Human Genetics, vol. 48, no. 2, pp. 107–109, 2003
  40. NF1 exon?7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis?1 patient
    Human Genetics, vol. 113, no. 6, pp. 551–554, 2003
  41. A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith–Wiedemann syndrome
    Molecular and Cellular Probes, vol. 17, no. 6, pp. 295–299, 2003
  42. C-Kit point mutations in core binding factor leukemias: correlation with white blood cell count and the white blood cell index
    Leukemia, vol. 17, no. 2, Article ID 2402795, 1 pages, 2003
  43. AML with t(8;21) and trisomy 4: possible involvement of c-kit?
    Leukemia, vol. 17, no. 9, Article ID 2403066, 1 pages, 2003
  44. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
    Human Molecular Genetics, vol. 12, no. 8, pp. 849–858, 2003
  45. Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region
    Human Genetics, vol. 110, no. 4, pp. 314–321, 2002
  46. Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply
    Human Genetics, vol. 111, no. 4-5, pp. 468–469, 2002