Daniela Giardino

Daniela Giardino

UNVERIFIED PROFILE

Are you Daniela Giardino?   Register this Author

Register author
Daniela Giardino

Daniela Giardino

Publications by authors named "Daniela Giardino"

Are you Daniela Giardino?   Register this Author

43Publications

604Reads

5Profile Views

European guidelines for constitutional cytogenomic analysis.

Eur J Hum Genet 2019 01 1;27(1):1-16. Epub 2018 Oct 1.

CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 9DU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0244-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303289PMC
January 2019

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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Exploring patterns of unwanted behaviours in adults with Prader-Willi syndrome.

J Appl Res Intellect Disabil 2013 Nov 24;26(6):568-77. Epub 2013 Apr 24.

Psychology Laboratory, IRCCS Istituto Auxologico Italiano, Piancavallo, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jar.12047DOI Listing
November 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

1q44-qter trisomy: clinical report and review of the literature.

Genet Test Mol Biomarkers 2009 Feb;13(1):79-86

Molecular Cytogenetic Laboratory, Pediatrics Department, University of Padua, Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2008.0075DOI Listing
February 2009

Genetics and mathematics: evidence from Prader-Willi syndrome.

Neuropsychologia 2008 Jan 2;46(1):206-12. Epub 2007 Aug 2.

Department of Psychology, University of Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuropsychologia.2007.07.017DOI Listing
January 2008

High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy.

Endocr Relat Cancer 2005 Dec;12(4):867-74

Dipartimento di Biologia e Patologia Cellulare e Molecolare, Facoltà di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1677/erc.1.01049DOI Listing
December 2005

Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.

Am J Med Genet A 2005 Mar;133A(2):184-8

Clinic of Medical Genetics, Istituto Auxologico Italiano, Via Viotti 3/5, 20133 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30503DOI Listing
March 2005

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

Am J Med Genet 2002 Aug;111(3):319-23

Cytogenetics and Molecular Genetics Laboratory, Auxological Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10537DOI Listing
August 2002

The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomas.

Cancer Res 2002 Apr;62(8):2398-405

Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Via Viotti 3/4, 20123 Milan, Italy.

View Article

Download full-text PDF

Source
April 2002