Lidia Larizza

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. ncbi request reprint The Kasumi-1 cell line: a t(8;21)-kit mutant model for acute myeloid leukemia
    Lidia Larizza
    Department of Biology and Genetics for Medical Sciences, Medical Faculty, University of Milan, Italy
    Leuk Lymphoma 46:247-55. 2005
  2. doi request reprint Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
    Lucia Ballarati
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Eur J Med Genet 55:124-7. 2012
  3. pmc Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
    Cristina Gervasini
    Medical Genetics, Department of Health Sciences, Universita degli Studi di Milano, Milan, Italy
    BMC Med Genet 14:41. 2013
  4. pmc Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
    Palma Finelli
    Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
    Mol Cytogenet 5:16. 2012
  5. pmc Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
    Elisa A Colombo
    Dipartimento di Medicina, Chirurgia e Odontoiatria, Universita degli Studi di Milano, Milano, Italy
    Orphanet J Rare Dis 7:7. 2012
  6. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007
  7. pmc Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
    Daniela Giardino
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
    BMC Med Genet 11:146. 2010
  8. ncbi request reprint Developmental abnormalities and cancer predisposition in neurofibromatosis type 1
    Lidia Larizza
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    Curr Mol Med 9:634-53. 2009
  9. ncbi request reprint Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping
    Lidia Larizza
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Via A Di Rudini, 8, 20142 Milano, Italy
    Cancer Lett 232:107-20. 2006
  10. pmc Update on the cytogenetics and molecular genetics of chordoma
    Lidia Larizza
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Hered Cancer Clin Pract 3:29-41. 2005

Collaborators

Detail Information

Publications40

  1. ncbi request reprint The Kasumi-1 cell line: a t(8;21)-kit mutant model for acute myeloid leukemia
    Lidia Larizza
    Department of Biology and Genetics for Medical Sciences, Medical Faculty, University of Milan, Italy
    Leuk Lymphoma 46:247-55. 2005
    ..Independent findings on the same model system provide complementary insights into designing strategies for treatment of CBF leukemia associated with mutations in the KIT catalytic domain...
  2. doi request reprint Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
    Lucia Ballarati
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Eur J Med Genet 55:124-7. 2012
    ..The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males...
  3. pmc Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
    Cristina Gervasini
    Medical Genetics, Department of Health Sciences, Universita degli Studi di Milano, Milan, Italy
    BMC Med Genet 14:41. 2013
    ..To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively...
  4. pmc Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
    Palma Finelli
    Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
    Mol Cytogenet 5:16. 2012
    ..abstract:..
  5. pmc Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
    Elisa A Colombo
    Dipartimento di Medicina, Chirurgia e Odontoiatria, Universita degli Studi di Milano, Milano, Italy
    Orphanet J Rare Dis 7:7. 2012
    ..Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients...
  6. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007
    ..Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to missplicing...
  7. pmc Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
    Daniela Giardino
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
    BMC Med Genet 11:146. 2010
    ..We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome...
  8. ncbi request reprint Developmental abnormalities and cancer predisposition in neurofibromatosis type 1
    Lidia Larizza
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    Curr Mol Med 9:634-53. 2009
    ..Advances in our knowledge of the developmental defects primed by the loss neurofibromin should reveal further associations between given NF1 mutations and tissue-specific symptoms, thus improving the clinical management of the patients...
  9. ncbi request reprint Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping
    Lidia Larizza
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Via A Di Rudini, 8, 20142 Milano, Italy
    Cancer Lett 232:107-20. 2006
    ..Further work is needed to define the specific and shared functions of RECQL4 in relation to other RecQ helicases and to connect RECQL4 diseases to other genomic instability syndromes with birth defects and cancer predisposition...
  10. pmc Update on the cytogenetics and molecular genetics of chordoma
    Lidia Larizza
    Department of Biology and Genetics for Medical Sciences, University of Milan, Italy
    Hered Cancer Clin Pract 3:29-41. 2005
    ..Comparative genetic and biomolecular studies should enhance the molecular taxonomy of chordoma which might have a prognostic significance and better orient the therapeutic options...
  11. pmc Rothmund-Thomson syndrome
    Lidia Larizza
    Department of Medicine, Surgery and Dentistry, University of Milan, Italy
    Orphanet J Rare Dis 5:2. 2010
    ..The sensitivity of RTS cells to genotoxic agents exploiting cells with a known RECQL4 status is being elucidated and is aimed at optimizing the chemotherapeutic regimen for osteosarcoma...
  12. ncbi request reprint Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene
    Cristina Gervasini
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Genomics 85:273-9. 2005
    ....
  13. ncbi request reprint Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions
    Marco Venturin
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
    Hum Genet 115:69-80. 2004
    ....
  14. pmc High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis
    Cristina Gervasini
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Milan, Italy
    Eur J Hum Genet 18:768-75. 2010
    ..The contribution of this and the other detected CNVs to the clinical RSTS phenotype is difficult to assess...
  15. doi request reprint Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
    Lucia Ballarati
    Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Eur J Med Genet 54:55-9. 2011
    ..The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself...
  16. ncbi request reprint STI 571 inhibition effect on KITAsn822Lys-mediated signal transduction cascade
    Alessandro Beghini
    Department of Biology and Genetics for Medical Sciences, Medical Faculty, University of Milan, Milan, Italy
    Exp Hematol 33:682-8. 2005
    ....
  17. ncbi request reprint NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient
    Patrizia Colapietro
    Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3 5, 20133, Milan, Italy
    Hum Genet 113:551-4. 2003
    ..Thus the contiguous internal exon 7 mutations are suggested to cause exon 7 skipping as a result of the mis-splicing caused by abrogation of functional ESEs...
  18. ncbi request reprint Amplification of a novel c-Kit activating mutation Asn(822)-Lys in the Kasumi-1 cell line: a t(8;21)-Kit mutant model for acute myeloid leukemia
    Alessandro Beghini
    Department of Biology and Genetics, Medical Faculty, University of Milan, Italy
    Hematol J 3:157-63. 2002
    ..In rare core binding factor leukemia patients an increased dosage of a mutated Asp816(Tyr/Val) kit allele is achieved through nonrandom duplication of chromosome 4 where the c-kit gene is located...
  19. doi request reprint Multiple localization of endogenous MARK4L protein in human glioma
    Ivana Magnani
    Dipartimento di Medicina, Chirurgia e Odontoiatria, Sezione di Genetica Medica, Universita di Milano, Milan, Italy
    Cell Oncol 31:357-70. 2009
    ....
  20. ncbi request reprint High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints
    Cristina Gervasini
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, 20142 Milan, Italy
    Genomics 90:567-73. 2007
    ..The clinical presentation was typical in all cases, but more severe in the three patients carrying constitutional deletions, raising a question about the possible underdiagnosis of a few cases of mild RSTS...
  21. doi request reprint Differential signature of the centrosomal MARK4 isoforms in glioma
    Ivana Magnani
    Department of Medicine, Surgery and Dentistry, Ospedale San Paolo, Medical Genetics, Universita degli Studi di Milano, Italy
    Anal Cell Pathol (Amst) 34:319-38. 2011
    ..MAP/microtubule affinity-regulating kinase 4 (MARK4) is a serine-threonine kinase expressed in two spliced isoforms, MARK4L and MARK4S, of which MARK4L is a candidate for a role in neoplastic transformation...
  22. pmc Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene
    Ludovica Volpi
    Universita degli Studi di Milano, Dipartimento di Biologia e Genetica per le Scienze Mediche, Milan, Italy
    Am J Hum Genet 86:72-6. 2010
    ..The unravelled clinical and genetic identity of PN allows patients to undergo genetic testing and follow-up...
  23. pmc Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
    Angela Bentivegna
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    BMC Med Genet 7:77. 2006
    ..3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions...
  24. ncbi request reprint RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient
    Alessandro Beghini
    Department of Biology and Genetics, Medical Faculty, University of Milan, Italy
    Am J Med Genet A 120:395-9. 2003
    ....
  25. ncbi request reprint Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses
    Ivana Magnani
    Department of Biology and Genetics, University of Milan, Via Viotti3 5, 20133 Milan, Italy
    Cancer Genet Cytogenet 161:140-5. 2005
    ..Based on these results, we conclude that the MI-4 glioblastoma cell line might function as a model system for investigations into the behavior of a defined oligodendroglioma subtype...
  26. ncbi request reprint KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication
    Alessandro Beghini
    Department of Biology and Genetics for Medical Sciences, Medical Faculty, University of Milan, Italy
    Haematologica 89:920-5. 2004
    ..We evaluated the incidence of KIT mutation in 52 adult patients with de novo CBFL and in 49 FLT3/ITD-negative childhood patients with de novo acute myeloid leukemia (AML), excluding cases of acute promyelocytic leukemia...
  27. doi request reprint Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34+38- compartment
    Laura Pedranzini
    Genetica Medica, Dipartimento di Medicina, Chirurgia e Odontoiatria, Universita di Milano, Via A Di Rudini 8, 20142 Milan, Italy
    Leuk Res 34:1287-95. 2010
    ..Expression profiling by a miRNA platform showed a set of miRNA differentially expressed in paired subpopulations and the signature of miR-584 and miR-182 upregulation in the CD34(+)CD38(-) fraction...
  28. doi request reprint Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A
    Guia Guffanti
    Universita degli Studi di Milano, Milan, Italy
    Psychiatry Res 185:33-8. 2011
    ..Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism...
  29. doi request reprint Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
    Paola Castronovo
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Via A Di Rudini 8, 20142 Milan, Italy
    Chromosome Res 17:763-71. 2009
    ..The absence of any difference in the frequency of PCS between the patients and controls, or between patients with different clinical or genetic backgrounds, precludes its potential use as an additional diagnostic tool...
  30. doi request reprint A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype
    Chiara Castronovo
    Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Am J Med Genet A 161:611-8. 2013
    ..Our study confirms the usefulness of array CGH for increasing the detection rate of NSD1 abnormalities and for diagnosing syndromic patients that do not present an easily recognized phenotype...
  31. ncbi request reprint The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines
    Alessandro Beghini
    Department of Biology and Genetics, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Oncogene 22:2581-91. 2003
    ..Taken together, these data show that MARK4, which is normally expressed in neural progenitors, is re-expressed in gliomas and may become a key target of intrachromosomal amplification upon 19q rearrangements...
  32. ncbi request reprint Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis
    Paola Riva
    Department of Biology and Genetics, Medical Faculty, University of Milan, Italy
    Int J Cancer 107:493-7. 2003
    ..13, and suggests that the CASP9, EPH2A and DVL1 genes may play an onco-suppressing role and be involved in the development of chordoma...
  33. ncbi request reprint Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction
    Silvia Tabano
    Department of Medicine, Surgery and Dentistry, Unit of Medical Genetics, Universita degli Studi di Milano, Milano, Italy
    Epigenetics 5:313-24. 2010
    ..Finally, because of placental hypomethylation, cautions should be exercised in diagnosis of imprinting diseases using chorionic villi...
  34. doi request reprint SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome
    Cristina Gervasini
    Medical Genetics, Department of Medicine, Surgery and Dentistry, Universita degli Studi di Milano, Italy
    Genet Med 12:634-40. 2010
    ..The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Küster-Hauser syndrome...
  35. ncbi request reprint Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
    Marco Venturin
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
    Neurogenetics 7:59-66. 2006
    ..Prediction of mRNA and protein secondary structures revealed that two changes lead to putative structural alterations in the mutated c.2254C>G CDK5R1 3'UTR and in OMG T408A gene product...
  36. ncbi request reprint Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite
    Gaia Roversi
    Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti3 5, Italy
    J Hum Genet 48:107-9. 2003
    ..RECQL4 polymorphic sites may be useful for identifying alleles associated with missplicing and, more generally, in cancer-susceptibility association studies...
  37. doi request reprint De novo balanced chromosome rearrangements in prenatal diagnosis
    Daniela Giardino
    Lab Citogenetica Medica e Genetica Molecolare, IRCCS Ist Auxologico Italiano, Milano, Italy
    Prenat Diagn 29:257-65. 2009
    ....
  38. ncbi request reprint Interphase fluorescence in situ hybridization analysis of del(11)(q23) and del(17)(p13) in chronic lymphocytic leukemia. a study of 40 early-onset patients
    Luisa Doneda
    Department of Biology and Genetics Medical Faculty, University of Milan, Milan, Italy
    Cancer Genet Cytogenet 140:31-6. 2003
    ..In contrast, monoallelic TP53 deletions were found in all of the patients. The TP53 and 11q deletions were only present in a proportion of the clonal B-cells, which suggests that they are secondary events in B-CLL...
  39. ncbi request reprint KL/KIT co-expression in mouse fetal oocytes
    Luisa Doneda
    Department of Biology and Genetics for the Medical Sciences, University of Milan, Italy
    Int J Dev Biol 46:1015-21. 2002
    ....
  40. ncbi request reprint Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region
    Cristina Gervasini
    Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133 Milan, Italy
    Hum Genet 110:314-21. 2002
    ..Detection of the NF1 duplicon by high-resolution FISH may pave the way to filling the gaps in the human genomic sequence of the pericentromeric 17q11.2 region...