Laura Cremonesi

Laura Cremonesi

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Laura Cremonesi

Laura Cremonesi

Publications by authors named "Laura Cremonesi"

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COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma.

J Med Genet 2016 07 24;53(7):481-7. Epub 2016 Feb 24.

Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2015-103229DOI Listing
July 2016

Prospective evaluation of RASSF1A cell-free DNA as a biomarker of pre-eclampsia.

Placenta 2015 Sep 7;36(9):996-1001. Epub 2015 Jul 7.

Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.placenta.2015.07.003DOI Listing
September 2015

Communicating Down syndrome risk according to maternal age: "1-in-X" effect on perceived risk.

Prenat Diagn 2015 Aug 9;35(8):777-82. Epub 2015 Jun 9.

Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1002/pd.4606DOI Listing
August 2015

Advancing the education in molecular diagnostics: the IFCC-Initiative "Clinical Molecular Biology Curriculum" (C-CMBC); a ten-year experience.

Clin Chim Acta 2014 Sep 9;436:5-8. Epub 2014 May 9.

Institute for Clinical Chemistry, Medical Faculty Mannheim of the University of Heidelberg, 68167 Mannheim, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.04.031DOI Listing
September 2014

Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia.

Blood 2014 Aug 26;124(9):1513-21. Epub 2014 Jun 26.

Department of Molecular Medicine, University of Pavia, Pavia, Italy; Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy;

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http://dx.doi.org/10.1182/blood-2014-03-560227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148773PMC
August 2014

A new microarray substrate for ultra-sensitive genotyping of KRAS and BRAF gene variants in colorectal cancer.

PLoS One 2013 25;8(3):e59939. Epub 2013 Mar 25.

San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Milan, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0059939PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607556PMC
December 2013

Using comparison scenarios to improve prenatal risk communication.

Med Decis Making 2013 01 24;33(1):48-58. Epub 2012 Oct 24.

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy (SB, MF, LC)

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http://dx.doi.org/10.1177/0272989X12464433DOI Listing
January 2013

COLD-PCR and innovative microarray substrates for detecting and genotyping MPL exon 10 W515 substitutions.

Clin Chem 2012 Dec 11;58(12):1692-702. Epub 2012 Oct 11.

San Raffaele Scientific Institute, Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, Milan, Italy.

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http://dx.doi.org/10.1373/clinchem.2012.192708DOI Listing
December 2012

Temperature-tolerant COLD-PCR reduces temperature stringency and enables robust mutation enrichment.

Clin Chem 2012 Jul 15;58(7):1130-8. Epub 2012 May 15.

Division of DNA Repair and Genome Stability, Department of Radiation Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1373/clinchem.2012.183095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418919PMC
July 2012

Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia.

Expert Opin Biol Ther 2012 Jun 16;12 Suppl 1:S181-7. Epub 2012 Apr 16.

Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Genomic Unit for Diagnosis of Human Pathologies, Via Olgettina 60, 20132 Milan, Italy.

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http://dx.doi.org/10.1517/14712598.2012.677428DOI Listing
June 2012

The 1-in-X effect on the subjective assessment of medical probabilities.

Med Decis Making 2011 Sep-Oct;31(5):721-9. Epub 2011 Apr 21.

Centre National de la Recherche Scientifique and Université de Toulouse, Toulouse, France (SP, J-FB)

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http://journals.sagepub.com/doi/10.1177/0272989X11403490
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http://dx.doi.org/10.1177/0272989X11403490DOI Listing
January 2012

Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations.

Clin Chem Lab Med 2012 Jan 9;50(6):1021-9. Epub 2012 Jan 9.

Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1515/cclm-2011-0854DOI Listing
January 2012

Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients.

Genet Test Mol Biomarkers 2010 Dec 12;14(6):793-6. Epub 2010 Oct 12.

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics, and Biostatistics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1089/gtmb.2010.0076DOI Listing
December 2010

High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene.

Clin Chem Lab Med 2010 Oct 27;48(10):1415-8. Epub 2010 Jun 27.

San Raffaele Scientific Institute, Center for Genomics, Bioinformatics and Biostatistics, Genomic Unit for the Diagnosis of Human Pathologies, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2010.281DOI Listing
October 2010

Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.

Parkinsons Dis 2010 Oct 17;2011:827693. Epub 2010 Oct 17.

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, 20132 Milan, Italy.

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http://dx.doi.org/10.4061/2011/827693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957853PMC
October 2010

Evaluation of a panel of circulating DNA, RNA and protein potential markers for pathologies of pregnancy.

Clin Chem Lab Med 2010 Jun;48(6):791-4

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2010.160DOI Listing
June 2010

Integrated PCR amplification and detection processes on a Lab-on-Chip platform: a new advanced solution for molecular diagnostics.

Clin Chem Lab Med 2010 Mar;48(3):329-36

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2010.063DOI Listing
March 2010

High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma.

Clin Chem Lab Med 2009 ;47(7):818-23

Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2009.187DOI Listing
November 2009

Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Blood 2009 Oct 19;114(17):3538-45. Epub 2009 Aug 19.

Department of Hematology Oncology, University of Pavia & Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1182/blood-2009-05-222331DOI Listing
October 2009

Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

Clin Chem Lab Med 2008 ;46(9):1250-5

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2008.248DOI Listing
December 2008

Development of new substrates for high-sensitive genotyping of minority mutated alleles.

Electrophoresis 2008 Dec;29(23):4714-22

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1002/elps.200800242DOI Listing
December 2008

Dual-color microchip electrophoresis with single-photon avalanche diodes: application to mutation detection.

Electrophoresis 2008 Dec;29(24):4972-5

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1002/elps.200800323DOI Listing
December 2008

Genotyping beta-globin gene mutations on copolymer-coated glass slides with the ligation detection reaction.

Clin Chem 2008 Oct 14;54(10):1657-63. Epub 2008 Aug 14.

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milano, Italy.

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http://dx.doi.org/10.1373/clinchem.2008.107870DOI Listing
October 2008

A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia.

Methods Mol Biol 2008 ;444:169-82

Genomic Unit for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1007/978-1-59745-066-9_13DOI Listing
June 2008

2. Post-Natal Molecular Diagnosis of Inherited Diseases.

EJIFCC 2008 Apr 3;19(1):7-12. Epub 2008 Apr 3.

1 Università Vita-Salute San Raffaele , Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975336PMC
April 2008

10. Circulating Nucleic Acids as Diagnostic Tool.

EJIFCC 2008 Apr 3;19(1):68-74. Epub 2008 Apr 3.

Università Vita-Salute San Raffaele , Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975344PMC
April 2008

Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation.

Mov Disord 2008 Apr;23(6):904-7

Centro della Microcitemia e Anemie Congenite, Ospedale Galliera, Genoa, Italy.

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http://dx.doi.org/10.1002/mds.22002DOI Listing
April 2008

Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.

Blood 2008 Feb 5;111(3):1686-9. Epub 2007 Nov 5.

Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1182/blood-2007-07-101576DOI Listing
February 2008

High-throughput mutational screening for beta-thalassemia by single-nucleotide extension.

Electrophoresis 2007 Dec;28(23):4289-94

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milano, Italy.

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http://dx.doi.org/10.1002/elps.200700181DOI Listing
December 2007

An overview of current microarray-based human globin gene mutation detection methods.

Hemoglobin 2007 ;31(3):289-311

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1080/03630260701459366DOI Listing
October 2007

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

Clin Chem 2007 Oct 10;53(10):1767-74. Epub 2007 Aug 10.

Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1373/clinchem.2007.089292DOI Listing
October 2007

Relative contribution of iron genes, dysmetabolism and hepatitis C virus (HCV) in the pathogenesis of altered iron regulation in HCV chronic hepatitis.

Haematologica 2007 Aug 20;92(8):1037-42. Epub 2007 Jul 20.

Department of Internal Medicine, Medicina Interna IB, Universita' di Milano, Ospedale Policlinico Mangiagalli Regina Elena IRCCS, Milano, Italy.

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http://dx.doi.org/10.3324/haematol.11281DOI Listing
August 2007

Correlation of fetal DNA levels in maternal plasma with Doppler status in pathological pregnancies.

Prenat Diagn 2006 Sep;26(9):785-90

Department of Obstetrics and Gynecology, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1002/pd.1504DOI Listing
September 2006

De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy.

Clin Chem Lab Med 2006 ;44(5):533-7

Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2006.116DOI Listing
August 2006

[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")].

Med Clin (Barc) 2006 Jun;127(2):55-8

Servicio de Hematología y Hemoterapia, Hospital Miguel Servet, P. Isabel La Católica 1-3, 50009 Zaragoza, Spain.

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http://dx.doi.org/10.1157/13089990DOI Listing
June 2006

Single-nucleotide polymorphism and mutation identification by the nanogen microelectronic chip technology.

Methods Mol Med 2005 ;114:93-106

Unit of Genomics for Diagnosis of Human Pathologies, Istituto di Ricovero e Cura a Carattere Scientifico Osedale San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1385/1-59259-923-0:93DOI Listing
October 2005

Fetal DNA detection in maternal plasma throughout gestation.

Hum Genet 2005 Jul 20;117(2-3):243-8. Epub 2005 May 20.

Unit of Genomics for Diagnosis of Human Pathologies, IRCCS H. San Raffaele, Via Olgettina 58, 20132 Milan, Italy.

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http://dx.doi.org/10.1007/s00439-005-1330-zDOI Listing
July 2005

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.

Blood Cells Mol Dis 2004 Nov-Dec;33(3):338-43

Dipartimento Materno Infantile e Tecnologie Biomediche, Università di Brescia, A.O. Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.bcmd.2004.08.002DOI Listing
April 2005

Molecular diagnostics by microelectronic microchips.

Expert Rev Mol Diagn 2005 Mar;5(2):183-92

IRCCS Ospedale San Raffaele, Head of the Clinical Molecular Biology & Cytogenetics Laboratory, Diagnostica e Ricerca San Raffaele SPA, and Unit of Genomics for Diagnosis of Human Pathologies, via Olgettina 60, 20132 Milan, Italy.

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http://www.tandfonline.com/doi/full/10.1586/14737159.5.2.183
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http://dx.doi.org/10.1586/14737159.5.2.183DOI Listing
March 2005

C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract.

Blood Cells Mol Dis 2004 Jul-Aug;33(1):31-4

Dipartimento di Scienze Cliniche e Biologiche, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1016/j.bcmd.2004.04.010DOI Listing
January 2005

Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

Clin Chem 2004 Aug 10;50(8):1336-43. Epub 2004 Jun 10.

Unit of Genomics for Diagnosis of Human Pathologies, University Hospital San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1373/clinchem.2004.033241DOI Listing
August 2004

Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection.

Clin Chem 2004 Jan;50(1):73-9

Unit of Genomics for Diagnosis of Human Pathologies, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1373/clinchem.2003.023077DOI Listing
January 2004

Fetal DNA in maternal plasma in twin pregnancies.

Clin Chem 2003 Sep;49(9):1526-8

Department of Obstetrics and Gynecology, IRCCS, H. San Raffaele, Via Olgettina 60, 20132 Milan, Italy.

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September 2003

Denaturing HPLC analysis of DNA deletions and insertions.

Hum Mutat 2003 Jul;22(1):98-102

IRCCS H. San Raffaele, Unit of Genomics for Diagnosis of Human Pathologies, Milan, Italy.

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http://doi.wiley.com/10.1002/humu.10234
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http://dx.doi.org/10.1002/humu.10234DOI Listing
July 2003

No evidence of fetal DNA persistence in maternal plasma after pregnancy.

Hum Genet 2003 May 27;112(5-6):617-8. Epub 2003 Feb 27.

Department of Obstetrics and Gynecology, H. San Raffaele, Milano, Italy.

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http://dx.doi.org/10.1007/s00439-003-0919-3DOI Listing
May 2003

Molecular diagnostics by microelectronic microchips.

Clin Chem Lab Med 2003 Apr;41(4):462-7

Unit of Genomics for Diagnosis of Human Pathologies, IRCCS H. San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2003.069DOI Listing
April 2003

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.

Clin Chem 2002 Dec;48(12):2124-30

Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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December 2002