Maurizio Ferrari

Maurizio Ferrari

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Maurizio Ferrari

Publications by authors named "Maurizio Ferrari"

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ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.

Hum Reprod 2019 Jun;34(6):1155-1164

Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

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http://dx.doi.org/10.1093/humrep/dez048DOI Listing
June 2019

Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Apr 22:1-4. Epub 2019 Apr 22.

a Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute , Vita-Salute San Raffaele University , Milan , Italy.

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https://www.tandfonline.com/doi/full/10.1080/21678421.2019.1
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http://dx.doi.org/10.1080/21678421.2019.1604761DOI Listing
April 2019

New molecular approaches to Alzheimer's disease.

Clin Biochem 2019 Apr 21. Epub 2019 Apr 21.

Vita-Salute San Raffaele University, Milan, Italy; Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy; IRCCS San Raffaele Hospital, Clinical Molecular Biology Laboratory, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2019.04.010DOI Listing
April 2019

Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients.

Clin Chim Acta 2019 Feb 12;489:136-143. Epub 2018 Dec 12.

Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy; Laboratory of Clinical Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milano, Italy.

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http://dx.doi.org/10.1016/j.cca.2018.12.004DOI Listing
February 2019

Next Generation Sequencing: From Research Area to Clinical Practice.

EJIFCC 2018 Nov 7;29(3):215-220. Epub 2018 Nov 7.

Vita-Salute San Raffaele University, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247137PMC
November 2018

Laser surface structuring of diamond with ultrashort Bessel beams.

Sci Rep 2018 Sep 19;8(1):14021. Epub 2018 Sep 19.

Institute for Photonics and Nanotechnologies, CNR, Udr Como, Via Valleggio 11, 22100, Como, Italy.

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http://dx.doi.org/10.1038/s41598-018-32415-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145940PMC
September 2018

About the Implementation of Frequency Conversion Processes in Solar Cell Device Simulations.

Micromachines (Basel) 2018 Aug 30;9(9). Epub 2018 Aug 30.

Historical Museum of Physics and Study & Research Centre "Enrico Fermi", 00184 Roma, Italy.

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http://dx.doi.org/10.3390/mi9090435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187720PMC
August 2018

Ag-Sensitized Yb Emission in Glass-Ceramics.

Micromachines (Basel) 2018 Jul 31;9(8). Epub 2018 Jul 31.

Museo Storico della Fisica e Centro Studi e Ricerche "Enrico Fermi", Roma 00184, Italy.

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http://www.mdpi.com/2072-666X/9/8/380
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http://dx.doi.org/10.3390/mi9080380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187558PMC
July 2018

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

J Perinatol 2018 04 19;38(4):337-344. Epub 2017 Dec 19.

Unit of Genomics 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/10.1038/s41372-017-0018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953905PMC
April 2018

Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.

EJIFCC 2018 Apr 30;29(1):4-14. Epub 2018 Apr 30.

Vita-Salute San Raffaele University, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949614PMC
April 2018

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.

EJIFCC 2018 Apr 30;29(1):15-25. Epub 2018 Apr 30.

Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949615PMC
April 2018

A novel LIPS assay for insulin autoantibodies.

Acta Diabetol 2018 Mar 5;55(3):263-270. Epub 2018 Jan 5.

Human Pathology Genomic Diagnostics Unit, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132, Milan, Italy.

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http://dx.doi.org/10.1007/s00592-017-1082-yDOI Listing
March 2018

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Cephalalgia 2017 Oct 19;37(12):1202-1206. Epub 2016 Sep 19.

1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1177/0333102416668655DOI Listing
October 2017

Structural and functional brain signatures of C9orf72 in motor neuron disease.

Neurobiol Aging 2017 09 6;57:206-219. Epub 2017 Jun 6.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy; Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy; Vita-Salute San Raffaele University, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.05.024DOI Listing
September 2017

Safety and Efficacy of a Novel Double-Stapling Technique for Distal Esophageal Resection and Esophago-Jejunal Anastomosis.

Dig Surg 2017 17;34(1):1-6. Epub 2016 Jun 17.

General Surgery Division, University of Eastern Piedmont, AOU Maggiore della Carità, Novara, Italy.

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http://dx.doi.org/10.1159/000446856DOI Listing
June 2017

Beyond the cardiovascular risk charts: the new way of hybrid profiles.

J Cardiovasc Med (Hagerstown) 2016 Dec;17(12):851-854

aUniversity of Rome Tor Vergata bINUIT Tor Vergata Foundation, Rome cVita Salute University of Milan, Italy.

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http://dx.doi.org/10.2459/JCM.0000000000000405DOI Listing
December 2016

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

EMBO Mol Med 2016 10 4;8(10):1197-1211. Epub 2016 Oct 4.

Proteomics of Iron Metabolism Unit, Division of Neuroscience San Raffaele Scientific Institute, Milan, Italy Vita-Salute San Raffaele University, Milan, Italy

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http://dx.doi.org/10.15252/emmm.201606391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048368PMC
October 2016

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

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency.

Mol Hum Reprod 2016 06 9;22(6):384-96. Epub 2016 Mar 9.

Department of Obstetrics, Gynecology, & Reproductive Sciences, Yale School of Medicine, New Haven, CT, USA Division of Reproductive Endocrinology and Infertility, Yale School of Medicine, New Haven, CT, USA

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http://dx.doi.org/10.1093/molehr/gaw023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884918PMC
June 2016

DNA microarray-based solid-phase PCR on copoly (DMA-NAS-MAPS) silicon coated slides: An example of relevant clinical application.

Biosens Bioelectron 2016 Apr 1;78:367-373. Epub 2015 Dec 1.

Istituto di Chimica del Riconoscimento Molecolare, CNR, Via Mario Bianco, 9, 20131 Milano, Italy.

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http://dx.doi.org/10.1016/j.bios.2015.11.091DOI Listing
April 2016

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study.

Clin Chim Acta 2015 Dec 8;451(Pt A):39-45. Epub 2015 Jan 8.

Unit of Genomics for Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.

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http://dx.doi.org/10.1016/j.cca.2015.01.001DOI Listing
December 2015

Laboratory medicine meets precision medicine: The paradigm of metabolomics in perinatology: Proposals from the 4th International Conference on Neonatal and Pediatric Laboratory Medicine.

Clin Chim Acta 2015 Dec 1;451(Pt A):1-3. Epub 2015 Sep 1.

Department of Surgical Sciences, Neonatal Intensive Care Unit, Neonatal Pathology, Puericulture Institute and Neonatal Section, University of Cagliari, Italy.

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http://dx.doi.org/10.1016/j.cca.2015.08.025DOI Listing
December 2015

High-throughput genetic characterization of a cohort of Brugada syndrome patients.

Hum Mol Genet 2015 Oct 28;24(20):5828-35. Epub 2015 Jul 28.

Laboratory of Clinical Molecular Biology and Cytogenetics and.

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http://dx.doi.org/10.1093/hmg/ddv302DOI Listing
October 2015

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

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.

Radiology 2015 Jul 22;276(1):207-18. Epub 2015 Jan 22.

From the Neuroimaging Research Unit (F.A., E.G.S., E.C., E.P., M. Filippi) and Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience (M. Scarlato, E.G.S., M. Sessa, G.C., M. Filippi), San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy; Laboratory of Clinical Molecular Biology and Cytogenetics, San Raffaele Scientific Institute, Milan, Italy (S.B., M. Ferrari); Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Department of Medico-Surgical Sciences and Biotechnologies, La Sapienza University of Rome, Rome, Italy (C.C.); Biostatistics Unit, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy (M.C.); Vita-Salute San Raffaele University, Milan, Italy (G.C., M. Ferrari, A.F., M. Filippi); and Department of Neuroradiology, San Raffaele Scientific Institute, Milan, Italy (A.F.).

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http://dx.doi.org/10.1148/radiol.14141715DOI Listing
July 2015

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.

J Neurol 2015 Feb 16;262(2):476-8. Epub 2014 Dec 16.

Department of Neurology, INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy,

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http://dx.doi.org/10.1007/s00415-014-7606-2DOI Listing
February 2015

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Neurology 2014 Oct 1;83(18):1634-44. Epub 2014 Oct 1.

From the Department of Neurology IV (L. Maggi, G.B., D.K., P.B., L.C., R.M., L. Morandi), Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., L.T., E.B.), Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome; Child Neurology Unit (A.P.), IRCCS Institute of Neurological Sciences, Bologna; Department of Paediatric Neurology (S. Sivo, M.P., E.M.), Catholic University, Rome; Department of Clinical and Experimental Medicine (G.R., G.S.), Section of Neurology, University of Pisa; Department of Neuroscience Rita Levi Montalcini (L.V., T.M.), University of Torino; Cardiomyology and Medical Genetics (P.D., L.P.), Second Naples University; Arrhythmia Unit and Electrophysiology Laboratories (S. Sala), Institute of Experimental Neurology (Inspe) and Department of Neurology (M.S., S.C.P.) and Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics (M.F.), San Raffaele Scientific Institute, Milan; Vita-Salute San Raffaele University (M.F.), Milan; Laboratory of Molecular Biology (M.F., S.B.), Diagnostica e Ricerca San Raffaele, Milan; Department of Neurosciences (E.P.), University of Padova, Padua; Department of Neurosciences (A.T., C.R.), University of Messina; National Research Council of Italy (G.L.), Institute of Molecular Genetics Unit of Bologna and Laboratory of Musculoskeletal Cell Biology IOR, Bologna; and Department of Public Health, Clinical and Molecular Medicine (N.C.), University of Cagliari, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000934DOI Listing
October 2014

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

Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

Clin Chim Acta 2014 Sep 7;436:276-82. Epub 2014 Jun 7.

Vita-Salute San Raffaele University, Milan, Italy; Clinical Molecular Biology and Cytogenetics Laboratory, IRCCS San Raffaele Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.05.026DOI Listing
September 2014

Predictive biomarkers of pre-eclampsia and effectiveness of preventative interventions for the disease.

Expert Opin Biol Ther 2014 Aug 26;14(8):1161-73. Epub 2014 Apr 26.

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

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http://dx.doi.org/10.1517/14712598.2014.912271DOI Listing
August 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

Association of LOXIN, a new functional splicing isoform of the OLR1 gene, with severity and prognostic localization of critical coronary artery stenoses.

J Cardiovasc Med (Hagerstown) 2014 May;15(5):391-6

aDepartment of Cardiology, San Raffaele Scientific Institute bUnit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.2459/JCM.0b013e3283624251DOI Listing
May 2014

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report.

Arq Bras Oftalmol 2013 Mar-Apr;76(2):126-8

Ophthalmology - Cornea and Ocular Surface Unit, San Raffaele Scientific institute, Milano, Italy.

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April 2014

Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings.

Pediatr Pulmonol 2014 Mar 14;49(3):E116-20. Epub 2014 Jan 14.

Unit of Genomics for Human Disease Diagnosis, Centre of Translational Genomics and Bioinformatics, Ospedale San Raffaele, Milano, Italy; Laboraf, Diagnostica e Ricerca, Ospedale San Raffaele, Milano, Italy.

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http://dx.doi.org/10.1002/ppul.22983DOI Listing
March 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

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

Eur J Hum Genet 2013 Sep 16;21(9):911-7. Epub 2013 Jan 16.

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

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http://dx.doi.org/10.1038/ejhg.2012.289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746265PMC
September 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

Genetic susceptibility to neonatal lung diseases.

Acta Biomed 2012 ;83 Suppl 1:10-4

Unità di Genomica per la Diagnostica delle Patologie Umane, Centro di Genomica Traslazionale e Bioinformatica, Istituto Scientifico San Raffaele, Milano.

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November 2012

Genetic predisposing factors to bronchopulmonary dysplasia: preliminary data from a multicentre study.

J Matern Fetal Neonatal Med 2012 Oct;25 Suppl 4:127-30

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

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http://dx.doi.org/10.3109/14767058.2012.714995DOI Listing
October 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

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

Biochim Biophys Acta 2012 Jun 3;1822(6):970-9. Epub 2012 Feb 3.

ProMiFa, Protein Microsequencing Facility, Division of Cell Biology and Genetics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2012.01.014DOI Listing
June 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

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

Cardiovasc Res 2011 Sep 24;91(4):606-16. Epub 2011 Jun 24.

Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.

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http://dx.doi.org/10.1093/cvr/cvr142DOI Listing
September 2011

Cystogenic potential of CD133+ progenitor cells of human polycystic kidneys.

J Pathol 2011 Sep 27;225(1):129-41. Epub 2011 Jun 27.

Department of Internal Medicine, Research Center for Experimental Medicine (CeRMS) and Center for Molecular Biotechnology, San Giovanni Battista Hospital, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/path.2920DOI Listing
September 2011

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

Comparison of different depletion strategies for improving resolution of the human urine proteome.

Clin Chem Lab Med 2010 Apr;48(4):531-5

Center for Genomics, Bioinformatics and Biostatistics, Genomics Unit for Human Disease Diagnosis, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2010.109DOI Listing
April 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

Patterning of sol-gel hybrid organic-inorganic film doped with luminescent semiconductor quantum dots.

J Nanosci Nanotechnol 2009 Mar;9(3):1858-64

Dipartimento di Ingegneria Meccanica-Settore Materiali, Università di Padova, via Marzolo 9, 35131 Padova, Italy.

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March 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