Lidia Larizza

Lidia Larizza

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Lidia Larizza

Lidia Larizza

Publications by authors named "Lidia Larizza"

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9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Neurogenetics 2019 Aug 17;20(3):145-154. Epub 2019 Jun 17.

Research Lab of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-019-00581-6DOI Listing
August 2019

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.

Eur J Med Genet 2019 Feb 2:103620. Epub 2019 Feb 2.

Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2019.01.010DOI Listing
February 2019

Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.

Eur J Med Genet 2019 Jan 24;62(1):73-76. Epub 2018 May 24.

Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2018.05.007DOI Listing
January 2019

Recurrence and Familial Inheritance of Intronic Pathogenic Variant Associated With Mild CdLS.

Front Neurol 2018 27;9:967. Epub 2018 Nov 27.

Laboratorio di Ricerche di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano (IRCCS) Milan, Italy.

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http://dx.doi.org/10.3389/fneur.2018.00967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277459PMC
November 2018

13q mosaic deletion including associated to mild phenotype and no cancer outcome - case report and review of the literature.

Mol Cytogenet 2018 19;11:53. Epub 2018 Sep 19.

1Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145 Milan, Italy.

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http://dx.doi.org/10.1186/s13039-018-0401-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148795PMC
September 2018

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Stem Cell Res 2018 07 30;30:130-140. Epub 2018 May 30.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche, IRCCS Istituto Auxologico Italiano, 20145 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.05.019DOI Listing
July 2018

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

Stem Cell Res 2018 07 18;30:175-179. Epub 2018 Jun 18.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche -Istituto Auxologico Italiano-IRCCS, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.06.009DOI Listing
July 2018

Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

J Clin Immunol 2018 05 16;38(4):494-502. Epub 2018 May 16.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Via Ariosto 13, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10875-018-0508-9DOI Listing
May 2018

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.

Indian J Pediatr 2017 01;84(1):91-92

Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy.

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http://link.springer.com/10.1007/s12098-016-2210-3
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http://dx.doi.org/10.1007/s12098-016-2210-3DOI Listing
January 2017

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Orphanet J Rare Dis 2016 10 7;11(1):136. Epub 2016 Oct 7.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Via Zucchi 18, 20095, Cusano Milanino, Italy.

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http://dx.doi.org/10.1186/s13023-016-0514-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054609PMC
October 2016

Survey of medical genetic services in Italy: year 2011.

BMC Health Serv Res 2016 Mar 17;16:96. Epub 2016 Mar 17.

IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy.

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http://dx.doi.org/10.1186/s12913-016-1340-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797350PMC
March 2016

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

Eur J Med Genet 2015 Nov 19;58(11):578-83. Epub 2015 Aug 19.

Lab. Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2015.08.003DOI Listing
November 2015

Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.

Br J Haematol 2015 Nov 25;171(4):557-65. Epub 2015 Aug 25.

Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1111/bjh.13651DOI Listing
November 2015

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Mol Cytogenet 2015 26;8:20. Epub 2015 Mar 26.

Medical Cytogenetics and Molecular Genetics Lab, IRCCS Istituto Auxologico Italiano, via Ariosto 13, Milano, 20145 Italy ; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, via Viotti 3/5, Milano, 20133 Italy.

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http://www.molecularcytogenetics.org/content/8/1/20
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http://dx.doi.org/10.1186/s13039-015-0126-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383199PMC
April 2015

Microtubule-associated protein/microtubule affinity-regulating kinase 4 (MARK4) plays a role in cell cycle progression and cytoskeletal dynamics.

Eur J Cell Biol 2014 Aug-Sep;93(8-9):355-65. Epub 2014 Jul 24.

Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, via A. di Rudinì 8, 20142 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejcb.2014.07.004DOI Listing
March 2015

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

J Hum Genet 2014 Nov 2;59(11):631-7. Epub 2014 Oct 2.

1] Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy [2] Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2014.84DOI Listing
November 2014

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

Epigenetics 2014 Jul 22;9(7):973-9. Epub 2014 Apr 22.

Medical Genetics; Department of Health Sciences; Università degli Studi di Milano; Milan, Italy; Laboratory of Medical Cytogenetics and Molecular Genetics; IRCCS Istituto Auxologico Italiano; Milan, Italy.

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http://dx.doi.org/10.4161/epi.28903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143412PMC
July 2014

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.

Int J Pediatr Otorhinolaryngol 2014 Jul 8;78(7):1045-8. Epub 2014 Apr 8.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876140018
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http://dx.doi.org/10.1016/j.ijporl.2014.03.038DOI Listing
July 2014

Clinical utility gene card for: poikiloderma with neutropenia.

Eur J Hum Genet 2013 Oct 16;21(10). Epub 2013 Jan 16.

Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778337PMC
October 2013

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Epigenetics 2013 Oct 5;8(10):1053-60. Epub 2013 Aug 5.

Division of Pathology; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy; Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Milano, Italy.

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http://dx.doi.org/10.4161/epi.25812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891686PMC
October 2013

Clinical utility gene card for: Rothmund-Thomson syndrome.

Eur J Hum Genet 2013 Jul 28;21(7). Epub 2012 Nov 28.

Dipartimento di Scienze della Salute, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722954PMC
July 2013

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Eur J Med Genet 2013 Mar 8;56(3):138-43. Epub 2013 Jan 8.

Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Via A. di Rudinì 8, 20142 Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.009DOI Listing
March 2013

A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.

Am J Med Genet A 2013 Mar 22;161A(3):611-8. Epub 2013 Jan 22.

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35814DOI Listing
March 2013

Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.

Gene 2012 Jul 17;502(1):40-5. Epub 2012 Apr 17.

Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.gene.2012.04.030DOI Listing
July 2012

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

Eur J Med Genet 2012 Feb 17;55(2):124-7. Epub 2011 Dec 17.

Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2011.12.001DOI Listing
February 2012

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Eur J Med Genet 2011 Jan-Feb;54(1):55-9. Epub 2010 Oct 20.

Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.003DOI Listing
June 2011

Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34+38- compartment.

Leuk Res 2010 Oct 12;34(10):1287-95. Epub 2010 Mar 12.

Genetica Medica, Dipartimento di Medicina, Chirurgia e Odontoiatria, Università di Milano, Via A di Rudinì 8, 20142 Milan, Italy.

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http://dx.doi.org/10.1016/j.leukres.2010.02.012DOI Listing
October 2010

Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits.

Eur J Med Genet 2010 Jul-Aug;53(4):186-91. Epub 2010 Apr 11.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.04.002DOI Listing
October 2010

Rothmund-Thomson syndrome.

Orphanet J Rare Dis 2010 Jan 29;5. Epub 2010 Jan 29.

Department of Medicine, Surgery and Dentistry, University of Milan, Italy.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-2
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http://dx.doi.org/10.1186/1750-1172-5-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826297PMC
January 2010

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Chromosome Res 2009 19;17(6):763-71. Epub 2009 Aug 19.

Division of Medical Genetics, San Paolo School of Medicine, University of Milan, via A. di Rudinì 8, 20142 Milan, Italy.

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http://link.springer.com/10.1007/s10577-009-9066-6
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http://dx.doi.org/10.1007/s10577-009-9066-6DOI Listing
December 2009

Multiple localization of endogenous MARK4L protein in human glioma.

Cell Oncol 2009 ;31(5):357-70

Dipartimento di Medicina, Chirurgia e Odontoiatria, Sezione di Genetica Medica, Università di Milano, Milan, Italy.

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http://dx.doi.org/10.3233/CLO-2009-0481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619174PMC
December 2009

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.

Eur J Med Genet 2009 Jul-Aug;52(4):218-23. Epub 2009 Feb 21.

Lab. Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.004DOI Listing
November 2009

Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.

Curr Mol Med 2009 Jun;9(5):634-53

Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy.

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http://dx.doi.org/10.2174/156652409788488801DOI Listing
June 2009

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Eur J Pediatr 2008 Feb 20;167(2):175-81. Epub 2007 Mar 20.

Clinical Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Unité de Génétique Clinique and Center for Human Genetics, Université Libre de Bruxelles, 15 avenue J.J Crocq, 1020, Brussels, Belgium.

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http://dx.doi.org/10.1007/s00431-007-0447-6DOI Listing
February 2008

Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts.

J Invest Dermatol 2007 Mar 23;127(3):676-86. Epub 2006 Nov 23.

Laboratory of Tissue Engineering and Cutaneous Physiopathology, Istituto Dermopatico dell'Immacolata, IRCCS, Via dei Monti di Creta 104, Rome, Italy.

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http://dx.doi.org/10.1038/sj.jid.5700639DOI Listing
March 2007

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Genet Med 2007 Mar;9(3):188-94

Clinical Genetic Unit, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Department of Obstetrics and Pediatrics, Milan, Italy.

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http://dx.doi.org/10.1097/gim.0b013e31803183ddDOI Listing
March 2007

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Nat Genet 2006 May 9;38(5):528-30. Epub 2006 Apr 9.

Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy.

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https://www.nature.com/articles/ng1779.pdf
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https://www.researchgate.net/publication/326121699_A_family_
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http://www.e-kjgm.org/journal/download_pdf.php?doi=10.5734/J
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http://www.nature.com/articles/ng1779
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http://dx.doi.org/10.1038/ng1779DOI Listing
May 2006

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

Neurogenetics 2006 Mar 20;7(1):59-66. Epub 2006 Jan 20.

Department of Biology and Genetics, Medical Faculty, University of Milan, Via Viotti 3/5, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-005-0026-9DOI Listing
March 2006