Rosanna Asselta

Rosanna Asselta

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Rosanna Asselta

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Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).

J Thromb Thrombolysis 2019 Nov 11. Epub 2019 Nov 11.

National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia.

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http://dx.doi.org/10.1007/s11239-019-01991-xDOI Listing
November 2019

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency.

Int J Mol Sci 2019 Feb 20;20(4). Epub 2019 Feb 20.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, 20090 Milan, Italy.

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http://dx.doi.org/10.3390/ijms20040910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412230PMC
February 2019

The immunobiology of female predominance in primary biliary cholangitis.

J Autoimmun 2018 12 25;95:124-132. Epub 2018 Oct 25.

Division Gastroenterology and Center for Autoimmune Liver Diseases, San Gerardo Hospital, Department of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2018.10.015DOI Listing
December 2018

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients.

Biomedicines 2018 Dec 18;6(4). Epub 2018 Dec 18.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy.

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http://www.mdpi.com/2227-9059/6/4/117
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http://dx.doi.org/10.3390/biomedicines6040117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315774PMC
December 2018

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions.

Front Genet 2018 17;9:647. Epub 2018 Dec 17.

Department of Biomedical Sciences, Humanitas University, Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2018.00647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304422PMC
December 2018

Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly.

ACS Nano 2018 10 3;12(10):9750-9762. Epub 2018 Oct 3.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale , Università di Milano , via Vanvitelli 32 , 20129 Milano , Italy.

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http://dx.doi.org/10.1021/acsnano.8b05821DOI Listing
October 2018

Newtonian to non-newtonian fluid transition of a model transient network.

Soft Matter 2018 May;14(17):3288-3295

Department of Medical Biotechnology and Translational Medicine, University of Milan, 20129 Milano, Italy.

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http://dx.doi.org/10.1039/c8sm00373dDOI Listing
May 2018

Opioid K receptor variant is associated with a delayed onset of dyskinesias in Parkinson's disease.

J Neurol Neurosurg Psychiatry 2018 Mar 19;89(3):323-324. Epub 2017 Jul 19.

Parkinson Institute, ASST Gaetano Pini-CTO, Milan, Italy.

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http://dx.doi.org/10.1136/jnnp-2017-316235DOI Listing
March 2018

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Int J Mol Sci 2017 Dec 14;18(12). Epub 2017 Dec 14.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy.

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http://dx.doi.org/10.3390/ijms18122711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751312PMC
December 2017

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Sci Rep 2017 10 5;7(1):12702. Epub 2017 Oct 5.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini, Pieve Emanuele, Milan, 20090, Italy.

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http://dx.doi.org/10.1038/s41598-017-12973-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629250PMC
October 2017

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

Blood 2017 07 14;130(4):e1-e6. Epub 2017 Jun 14.

Department of Biomedical Sciences, Humanitas University, Milan, Italy.

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http://dx.doi.org/10.1182/blood-2017-04-780148DOI Listing
July 2017

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

Biochim Biophys Acta Gen Subj 2017 May 14;1861(5 Pt A):1046-1056. Epub 2017 Feb 14.

Department of Biomedical Sciences, Humanitas University, Via Manzoni 113, 20089, Rozzano, Milan, Italy; Humanitas Clinical and Research Center, Via Manzoni 56, 20089, Rozzano, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2017.02.016DOI Listing
May 2017

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Authors:
Thomas R Webb Jeanette Erdmann Kathleen E Stirrups Nathan O Stitziel Nicholas G D Masca Henning Jansen Stavroula Kanoni Christopher P Nelson Paola G Ferrario Inke R König John D Eicher Andrew D Johnson Stephen E Hamby Christer Betsholtz Arno Ruusalepp Oscar Franzén Eric E Schadt Johan L M Björkegren Peter E Weeke Paul L Auer Ursula M Schick Yingchang Lu He Zhang Marie-Pierre Dube Anuj Goel Martin Farrall Gina M Peloso Hong-Hee Won Ron Do Erik van Iperen Jochen Kruppa Anubha Mahajan Robert A Scott Christina Willenborg Peter S Braund Julian C van Capelleveen Alex S F Doney Louise A Donnelly Rosanna Asselta Pier A Merlini Stefano Duga Nicola Marziliano Josh C Denny Christian Shaffer Nour Eddine El-Mokhtari Andre Franke Stefanie Heilmann Christian Hengstenberg Per Hoffmann Oddgeir L Holmen Kristian Hveem Jan-Håkan Jansson Karl-Heinz Jöckel Thorsten Kessler Jennifer Kriebel Karl L Laugwitz Eirini Marouli Nicola Martinelli Mark I McCarthy Natalie R Van Zuydam Christa Meisinger Tõnu Esko Evelin Mihailov Stefan A Escher Maris Alver Susanne Moebus Andrew D Morris Jarma Virtamo Majid Nikpay Oliviero Olivieri Sylvie Provost Alaa AlQarawi Neil R Robertson Karen O Akinsansya Dermot F Reilly Thomas F Vogt Wu Yin Folkert W Asselbergs Charles Kooperberg Rebecca D Jackson Eli Stahl Martina Müller-Nurasyid Konstantin Strauch Tibor V Varga Melanie Waldenberger Lingyao Zeng Rajiv Chowdhury Veikko Salomaa Ian Ford J Wouter Jukema Philippe Amouyel Jukka Kontto Børge G Nordestgaard Jean Ferrières Danish Saleheen Naveed Sattar Praveen Surendran Aline Wagner Robin Young Joanna M M Howson Adam S Butterworth John Danesh Diego Ardissino Erwin P Bottinger Raimund Erbel Paul W Franks Domenico Girelli Alistair S Hall G Kees Hovingh Adnan Kastrati Wolfgang Lieb Thomas Meitinger William E Kraus Svati H Shah Ruth McPherson Marju Orho-Melander Olle Melander Andres Metspalu Colin N A Palmer Annette Peters Daniel J Rader Muredach P Reilly Ruth J F Loos Alex P Reiner Dan M Roden Jean-Claude Tardif John R Thompson Nicholas J Wareham Hugh Watkins Cristen J Willer Nilesh J Samani Heribert Schunkert Panos Deloukas Sekar Kathiresan

J Am Coll Cardiol 2017 Feb;69(7):823-836

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts; Department of Medicine, Harvard Medical School, Boston, Massachusetts; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts; Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jacc.2016.11.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314135PMC
February 2017

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

J Hum Genet 2016 Dec 4;61(12):977-984. Epub 2016 Aug 4.

Department of Biomedical Sciences, Humanitas University, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2016.101DOI Listing
December 2016

Tryptophan hydroxylase type 2 variants modulate severity and outcome of addictive behaviors in Parkinson's disease.

Parkinsonism Relat Disord 2016 08 17;29:96-103. Epub 2016 May 17.

CNR - Neuroscience Institute, Milan, Italy; Department of Medical Biotechnologies and Translational Medicine, Università degli Studi di Milano, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2016.05.017DOI Listing
August 2016

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Authors:
Nathan O Stitziel Kathleen E Stirrups Nicholas G D Masca Jeanette Erdmann Paola G Ferrario Inke R König Peter E Weeke Thomas R Webb Paul L Auer Ursula M Schick Yingchang Lu He Zhang Marie-Pierre Dube Anuj Goel Martin Farrall Gina M Peloso Hong-Hee Won Ron Do Erik van Iperen Stavroula Kanoni Jochen Kruppa Anubha Mahajan Robert A Scott Christina Willenberg Peter S Braund Julian C van Capelleveen Alex S F Doney Louise A Donnelly Rosanna Asselta Piera A Merlini Stefano Duga Nicola Marziliano Josh C Denny Christian M Shaffer Nour Eddine El-Mokhtari Andre Franke Omri Gottesman Stefanie Heilmann Christian Hengstenberg Per Hoffman Oddgeir L Holmen Kristian Hveem Jan-Håkan Jansson Karl-Heinz Jöckel Thorsten Kessler Jennifer Kriebel Karl L Laugwitz Eirini Marouli Nicola Martinelli Mark I McCarthy Natalie R Van Zuydam Christa Meisinger Tõnu Esko Evelin Mihailov Stefan A Escher Maris Alver Susanne Moebus Andrew D Morris Martina Müller-Nurasyid Majid Nikpay Oliviero Olivieri Louis-Philippe Lemieux Perreault Alaa AlQarawi Neil R Robertson Karen O Akinsanya Dermot F Reilly Thomas F Vogt Wu Yin Folkert W Asselbergs Charles Kooperberg Rebecca D Jackson Eli Stahl Konstantin Strauch Tibor V Varga Melanie Waldenberger Lingyao Zeng Aldi T Kraja Chunyu Liu George B Ehret Christopher Newton-Cheh Daniel I Chasman Rajiv Chowdhury Marco Ferrario Ian Ford J Wouter Jukema Frank Kee Kari Kuulasmaa Børge G Nordestgaard Markus Perola Danish Saleheen Naveed Sattar Praveen Surendran David Tregouet Robin Young Joanna M M Howson Adam S Butterworth John Danesh Diego Ardissino Erwin P Bottinger Raimund Erbel Paul W Franks Domenico Girelli Alistair S Hall G Kees Hovingh Adnan Kastrati Wolfgang Lieb Thomas Meitinger William E Kraus Svati H Shah Ruth McPherson Marju Orho-Melander Olle Melander Andres Metspalu Colin N A Palmer Annette Peters Daniel Rader Muredach P Reilly Ruth J F Loos Alex P Reiner Dan M Roden Jean-Claude Tardif John R Thompson Nicholas J Wareham Hugh Watkins Cristen J Willer Sekkar Kathiresan Panos Deloukas Nilesh J Samani Heribert Schunkert

N Engl J Med 2016 03 2;374(12):1134-44. Epub 2016 Mar 2.

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http://dx.doi.org/10.1056/NEJMoa1507652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850838PMC
March 2016

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

Int J Mol Sci 2015 Sep 30;16(10):23463-81. Epub 2015 Sep 30.

Department of Biomedical Sciences, Humanitas University, Via Manzoni 113, Rozzano, Milan 20089, Italy.

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http://dx.doi.org/10.3390/ijms161023463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632709PMC
September 2015

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

Thromb Res 2015 Jul 14;136(1):168-74. Epub 2015 May 14.

Department of Biomedical Sciences, Humanitas University, Via Manzoni 113, 20089 Rozzano Mi, Italy; Humanitas Clinical and Research Center, Via Manzoni 56, 20089 Rozzano Mi, Italy.

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http://dx.doi.org/10.1016/j.thromres.2015.05.007DOI Listing
July 2015

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.

Thromb Haemost 2015 Mar 27;113(3):567-76. Epub 2014 Nov 27.

Prof. Stefano Duga, PhD, Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Viotti 3/5, 20133 Milan, Italy, Tel.: +39 02 50315823, Fax: +39 02 50315864, E-mail:

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http://dx.doi.org/10.1160/TH14-07-0629DOI Listing
March 2015

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Nature 2015 Feb 10;518(7537):102-6. Epub 2014 Dec 10.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.

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http://kooperberg.fhcrc.org/papers/2015do.pdf
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http://www.nature.com/doifinder/10.1038/nature13917
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http://dx.doi.org/10.1038/nature13917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319990PMC
February 2015

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

PLoS Genet 2015 Feb 3;11(2):e1004855. Epub 2015 Feb 3.

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany; Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409815PMC
February 2015

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients.

Int J Mol Sci 2011 1;12(12):8695-712. Epub 2011 Dec 1.

Dipartimento di Biologia e Genetica per le Scienze Mediche, Università Degli Studi di Milano, Milano, Italia/Via Viotti 3/5, Milan 20133, Italy.

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http://dx.doi.org/10.3390/ijms12128695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257096PMC
January 2015

Glucocerebrosidase mutations in primary parkinsonism.

Parkinsonism Relat Disord 2014 Nov 9;20(11):1215-20. Epub 2014 Sep 9.

Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228056PMC
November 2014

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

N Engl J Med 2014 Nov 12;371(22):2072-82. Epub 2014 Nov 12.

Cardiovascular Division, Department of Medicine, Division of Statistical Genomics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1056/NEJMoa1405386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335708PMC
November 2014

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

N Engl J Med 2014 Jul 18;371(1):22-31. Epub 2014 Jun 18.

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http://dx.doi.org/10.1056/NEJMoa1307095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180269PMC
July 2014

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Gene 2014 Mar 18;537(1):79-84. Epub 2013 Dec 18.

Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.11.102DOI Listing
March 2014

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Authors:
Gina M Peloso Paul L Auer Joshua C Bis Arend Voorman Alanna C Morrison Nathan O Stitziel Jennifer A Brody Sumeet A Khetarpal Jacy R Crosby Myriam Fornage Aaron Isaacs Johanna Jakobsdottir Mary F Feitosa Gail Davies Jennifer E Huffman Ani Manichaikul Brian Davis Kurt Lohman Aron Y Joon Albert V Smith Megan L Grove Paolo Zanoni Valeska Redon Serkalem Demissie Kim Lawson Ulrike Peters Christopher Carlson Rebecca D Jackson Kelli K Ryckman Rachel H Mackey Jennifer G Robinson David S Siscovick Pamela J Schreiner Josyf C Mychaleckyj James S Pankow Albert Hofman Andre G Uitterlinden Tamara B Harris Kent D Taylor Jeanette M Stafford Lindsay M Reynolds Riccardo E Marioni Abbas Dehghan Oscar H Franco Aniruddh P Patel Yingchang Lu George Hindy Omri Gottesman Erwin P Bottinger Olle Melander Marju Orho-Melander Ruth J F Loos Stefano Duga Piera Angelica Merlini Martin Farrall Anuj Goel Rosanna Asselta Domenico Girelli Nicola Martinelli Svati H Shah William E Kraus Mingyao Li Daniel J Rader Muredach P Reilly Ruth McPherson Hugh Watkins Diego Ardissino Qunyuan Zhang Judy Wang Michael Y Tsai Herman A Taylor Adolfo Correa Michael E Griswold Leslie A Lange John M Starr Igor Rudan Gudny Eiriksdottir Lenore J Launer Jose M Ordovas Daniel Levy Y-D Ida Chen Alexander P Reiner Caroline Hayward Ozren Polasek Ian J Deary Ingrid B Borecki Yongmei Liu Vilmundur Gudnason James G Wilson Cornelia M van Duijn Charles Kooperberg Stephen S Rich Bruce M Psaty Jerome I Rotter Christopher J O'Donnell Kenneth Rice Eric Boerwinkle Sekar Kathiresan L Adrienne Cupples

Am J Hum Genet 2014 Feb;94(2):223-32

Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA; National Heart, Lung, and Blood Institute (NHLBI) Framingham Heart Study, Framingham, MA 01702, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928662PMC
February 2014

Do tardive dyskinesia and L-dopa induced dyskinesia share common genetic risk factors? An exploratory study.

J Mol Neurosci 2013 Oct 12;51(2):380-8. Epub 2013 May 12.

Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Ein Karem, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1007/s12031-013-0020-xDOI Listing
October 2013

Phase behavior and critical activated dynamics of limited-valence DNA nanostars.

Proc Natl Acad Sci U S A 2013 Sep 9;110(39):15633-7. Epub 2013 Sep 9.

Department of Medical Biotechnology and Translational Medicine, Universitá degli Studi di Milano, I-20133 Milan, Italy.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1304632110
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http://dx.doi.org/10.1073/pnas.1304632110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785745PMC
September 2013

Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.

Am J Respir Cell Mol Biol 2013 May;48(5):619-25

Medical Genetics Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1165/rcmb.2012-0371OCDOI Listing
May 2013

Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: gene and smoking status interaction.

Parkinsonism Relat Disord 2013 Jan 9;19(1):72-6. Epub 2012 Aug 9.

Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah - Hebrew University Medical Center, Ein Karem, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.parkreldis.2012.07.007DOI Listing
January 2013

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.

Parkinsonism Relat Disord 2012 Mar 21;18(3):257-62. Epub 2011 Nov 21.

Dipartimento di Biologia e Genetica per le Scienze Mediche, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2011.10.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314966PMC
March 2012

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.

Neurobiol Aging 2011 Nov 8;32(11):1994-2005. Epub 2010 Jan 8.

Dipartimento di Biologia e Genetica per le Scienze Mediche, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.12.016DOI Listing
November 2011

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population.

Thromb Haemost 2011 Oct 8;106(4):655-64. Epub 2011 Sep 8.

Department of Biology and Genetics for Medical Sciences, University of Milan, Milano, Italy.

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http://dx.doi.org/10.1160/TH11-04-0247DOI Listing
October 2011

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

Thromb Haemost 2011 Aug 26;106(2):296-303. Epub 2011 May 26.

Dipartimento di Biologia e Genetica per Scienze Mediche, Università degli Studi di Milano, Milan, Italy.

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http://www.thieme-connect.de/DOI/DOI?10.1160/TH11-03-0149
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http://dx.doi.org/10.1160/TH11-03-0149DOI Listing
August 2011

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.

Authors:
Themistocles L Assimes Hilma Hólm Sekar Kathiresan Muredach P Reilly Gudmar Thorleifsson Benjamin F Voight Jeanette Erdmann Christina Willenborg Dhananjay Vaidya Changchun Xie Chris C Patterson Thomas M Morgan Mary Susan Burnett Mingyao Li Mark A Hlatky Joshua W Knowles John R Thompson Devin Absher Carlos Iribarren Alan Go Stephen P Fortmann Stephen Sidney Neil Risch Hua Tang Richard M Myers Klaus Berger Monika Stoll Svati H Shah Gudmundur Thorgeirsson Karl Andersen Aki S Havulinna J Enrique Herrera Nauder Faraday Yoonhee Kim Brian G Kral Rasika A Mathias Ingo Ruczinski Bhoom Suktitipat Alexander F Wilson Lisa R Yanek Lewis C Becker Patrick Linsel-Nitschke Wolfgang Lieb Inke R König Christian Hengstenberg Marcus Fischer Klaus Stark Wibke Reinhard Janina Winogradow Martina Grassl Anika Grosshennig Michael Preuss Stefan Schreiber H-Erich Wichmann Christa Meisinger Jean Yee Yechiel Friedlander Ron Do James B Meigs Gordon Williams David M Nathan Calum A MacRae Liming Qu Robert L Wilensky William H Matthai Atif N Qasim Hakon Hakonarson Augusto D Pichard Kenneth M Kent Lowell Satler Joseph M Lindsay Ron Waksman Christopher W Knouff Dawn M Waterworth Max C Walker Vincent E Mooser Jaume Marrugat Gavin Lucas Isaac Subirana Joan Sala Rafael Ramos Nicola Martinelli Oliviero Olivieri Elisabetta Trabetti Giovanni Malerba Pier Franco Pignatti Candace Guiducci Daniel Mirel Melissa Parkin Joel N Hirschhorn Rosanna Asselta Stefano Duga Kiran Musunuru Mark J Daly Shaun Purcell Sandra Eifert Peter S Braund Benjamin J Wright Anthony J Balmforth Stephen G Ball Willem H Ouwehand Panos Deloukas Michael Scholz Francois Cambien Andreas Huge Thomas Scheffold Veikko Salomaa Domenico Girelli Christopher B Granger Leena Peltonen Pascal P McKeown David Altshuler Olle Melander Joseph M Devaney Stephen E Epstein Daniel J Rader Roberto Elosua James C Engert Sonia S Anand Alistair S Hall Andreas Ziegler Christopher J O'Donnell John A Spertus David Siscovick Stephen M Schwartz Diane Becker Unnur Thorsteinsdottir Kari Stefansson Heribert Schunkert Nilesh J Samani Thomas Quertermous

J Am Coll Cardiol 2010 Nov;56(19):1552-63

Department of Medicine, Stanford University School of Medicine, Stanford, California 94304-1334, USA.

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http://dx.doi.org/10.1016/j.jacc.2010.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084526PMC
November 2010

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

Blood 2010 Mar 30;115(10):2065-72. Epub 2009 Dec 30.

Dipartimento di Biologia e Genetica per le Scienze Mediche, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1182/blood-2009-09-245092DOI Listing
March 2010

Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto.

Blood Coagul Fibrinolysis 2009 Jul;20(5):381-4

Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1097/mbc.0b013e3283256024DOI Listing
July 2009

Factor V deficiency.

Semin Thromb Hemost 2009 Jun 13;35(4):382-9. Epub 2009 Jul 13.

Department of Biology and Genetics for Medical Sciences, University of Milan, 20133 Milan, Italy.

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http://dx.doi.org/10.1055/s-0029-1225760DOI Listing
June 2009

Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

Ann Hematol 2009 Apr 29;88(4):359-63. Epub 2008 Aug 29.

Haemostasis & Thrombosis Unit, Hematology Research Center, Shiraz University of Medical Science, Shiraz, Iran.

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http://dx.doi.org/10.1007/s00277-008-0595-4DOI Listing
April 2009

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

Authors:
Sekar Kathiresan Benjamin F Voight Shaun Purcell Kiran Musunuru Diego Ardissino Pier M Mannucci Sonia Anand James C Engert Nilesh J Samani Heribert Schunkert Jeanette Erdmann Muredach P Reilly Daniel J Rader Thomas Morgan John A Spertus Monika Stoll Domenico Girelli Pascal P McKeown Chris C Patterson David S Siscovick Christopher J O'Donnell Roberto Elosua Leena Peltonen Veikko Salomaa Stephen M Schwartz Olle Melander David Altshuler Diego Ardissino Pier Angelica Merlini Carlo Berzuini Luisa Bernardinelli Flora Peyvandi Marco Tubaro Patrizia Celli Maurizio Ferrario Raffaela Fetiveau Nicola Marziliano Giorgio Casari Michele Galli Flavio Ribichini Marco Rossi Francesco Bernardi Pietro Zonzin Alberto Piazza Pier M Mannucci Stephen M Schwartz David S Siscovick Jean Yee Yechiel Friedlander Roberto Elosua Jaume Marrugat Gavin Lucas Isaac Subirana Joan Sala Rafael Ramos Sekar Kathiresan James B Meigs Gordon Williams David M Nathan Calum A MacRae Christopher J O'Donnell Veikko Salomaa Aki S Havulinna Leena Peltonen Olle Melander Goran Berglund Benjamin F Voight Sekar Kathiresan Joel N Hirschhorn Rosanna Asselta Stefano Duga Marta Spreafico Kiran Musunuru Mark J Daly Shaun Purcell Benjamin F Voight Shaun Purcell James Nemesh Joshua M Korn Steven A McCarroll Stephen M Schwartz Jean Yee Sekar Kathiresan Gavin Lucas Isaac Subirana Roberto Elosua Aarti Surti Candace Guiducci Lauren Gianniny Daniel Mirel Melissa Parkin Noel Burtt Stacey B Gabriel Nilesh J Samani John R Thompson Peter S Braund Benjamin J Wright Anthony J Balmforth Stephen G Ball Alistair S Hall Heribert Schunkert Jeanette Erdmann Patrick Linsel-Nitschke Wolfgang Lieb Andreas Ziegler Inke König Christian Hengstenberg Marcus Fischer Klaus Stark Anika Grosshennig Michael Preuss H-Erich Wichmann Stefan Schreiber Heribert Schunkert Nilesh J Samani Jeanette Erdmann Willem Ouwehand Christian Hengstenberg Panos Deloukas Michael Scholz Francois Cambien Muredach P Reilly Mingyao Li Zhen Chen Robert Wilensky William Matthai Atif Qasim Hakon H Hakonarson Joe Devaney Mary-Susan Burnett Augusto D Pichard Kenneth M Kent Lowell Satler Joseph M Lindsay Ron Waksman Christopher W Knouff Dawn M Waterworth Max C Walker Vincent Mooser Stephen E Epstein Daniel J Rader Thomas Scheffold Klaus Berger Monika Stoll Andreas Huge Domenico Girelli Nicola Martinelli Oliviero Olivieri Roberto Corrocher Thomas Morgan John A Spertus Pascal McKeown Chris C Patterson Heribert Schunkert Erdmann Erdmann Patrick Linsel-Nitschke Wolfgang Lieb Andreas Ziegler Inke R König Christian Hengstenberg Marcus Fischer Klaus Stark Anika Grosshennig Michael Preuss H-Erich Wichmann Stefan Schreiber Hilma Hólm Gudmar Thorleifsson Unnur Thorsteinsdottir Kari Stefansson James C Engert Ron Do Changchun Xie Sonia Anand Sekar Kathiresan Diego Ardissino Pier M Mannucci David Siscovick Christopher J O'Donnell Nilesh J Samani Olle Melander Roberto Elosua Leena Peltonen Veikko Salomaa Stephen M Schwartz David Altshuler

Nat Genet 2009 Mar 8;41(3):334-41. Epub 2009 Feb 8.

Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1038/ng.327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2681011PMC
March 2009

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family.

Blood Coagul Fibrinolysis 2009 Mar;20(2):150-6

Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-Gu, Seoul, Korea.

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https://insights.ovid.com/crossref?an=00001721-200903000-000
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http://dx.doi.org/10.1097/MBC.0b013e32832545dbDOI Listing
March 2009

Factor XI gene mutations in factor XI deficient patients of the Czech Republic.

Am J Hematol 2008 Dec;83(12):916-9

Department of Hematology and Hemophilia and Thrombosis Center, San Bortolo Hospital, Vicenza, Italy.

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http://dx.doi.org/10.1002/ajh.21286DOI Listing
December 2008

Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion.

Blood Cells Mol Dis 2008 Nov-Dec;41(3):292-7. Epub 2008 Aug 3.

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

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http://dx.doi.org/10.1016/j.bcmd.2008.06.004DOI Listing
November 2008

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Haematologica 2008 Oct 25;93(10):1505-13. Epub 2008 Aug 25.

Department of Biology and Genetics for Medical Sciences, University of Milan, via Viotti 3/5, 20133 Milan, Italy.

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http://dx.doi.org/10.3324/haematol.12934DOI Listing
October 2008

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

Thromb Haemost 2008 Mar;99(3):523-30

Dept. of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, 3/5-20133, Milan, Italy.

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http://dx.doi.org/10.1160/TH07-12-0723DOI Listing
March 2008

Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.

Br J Haematol 2007 Oct;139(1):128-32

Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/j.1365-2141.2007.06758.xDOI Listing
October 2007

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient.

Biochim Biophys Acta 2007 Jul 4;1772(7):781-7. Epub 2007 May 4.

Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2007.04.005DOI Listing
July 2007

Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects.

Thromb Haemost 2007 Apr;97(4):546-51

Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti, Milan, Italy.

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April 2007

Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene.

Haematologica 2006 May;91(5):628-33

Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy.

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May 2006

Factor X Shanghai: a mutation disrupting translocation to the endoplasmic reticulum.

Authors:
Rosanna Asselta

Haematologica 2005 Dec;90(12):1590

Department of Biology and Genetics for Medical Sciences, University of Milan, Italy.

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December 2005

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

Haematologica 2004 Nov;89(11):1332-40

Department of Biology and Genetics for Medical Sciences, University of Milan, Italy.

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November 2004

Coagulation factor V.

Int J Biochem Cell Biol 2004 Aug;36(8):1393-9

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

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http://dx.doi.org/10.1016/j.biocel.2003.08.002DOI Listing
August 2004