Anna Savoia

Anna Savoia

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Anna Savoia

Anna Savoia

Publications by authors named "Anna Savoia"

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Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Mol Genet Genomic Med 2019 05 28;7(5):e639. Epub 2019 Mar 28.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

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http://dx.doi.org/10.1002/mgg3.639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503064PMC
May 2019

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

Br J Haematol 2018 10 23;183(2):276-288. Epub 2018 Oct 23.

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1111/bjh.15531DOI Listing
October 2018

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

Gene 2018 Jul 19;664:152-167. Epub 2018 Apr 19.

Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bldg. 10 Room 6C-103B, 10 Center Drive, Bethesda, MD 20892-1583, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119183041
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http://dx.doi.org/10.1016/j.gene.2018.04.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970098PMC
July 2018

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

Br J Haematol 2018 06 3;181(5):698-701. Epub 2017 May 3.

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1111/bjh.14694DOI Listing
June 2018

Mutations of RUNX1 in families with inherited thrombocytopenia.

Am J Hematol 2017 06 24;92(6):E86-E88. Epub 2017 Mar 24.

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajh.24703DOI Listing
June 2017

MYH9 gene mutations associated with bleeding.

Platelets 2017 05 3;28(3):312-315. Epub 2017 Apr 3.

c Department of Internal Medicine , IRCCS Policlinico San Matteo Foundation and University of Pavia , Pavia , Italy.

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http://dx.doi.org/10.1080/09537104.2017.1294250DOI Listing
May 2017

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Ear Hear 2016 Jan-Feb;37(1):112-20

1Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands; 2Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands; 3Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Centre, Nijmegen, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Department of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, UE IDIM-CONICET, University of Buenos Aires, Buenos Aires, Argentina; 6Institut d'Investigació Biomèdica Sant Pau, Universitat Aut∫noma de Barcelona, Barcelona, Spain; 7Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," and University of Trieste, Trieste, Italy; 8Department of Otorhinolaryngology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; 9Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy; and 10Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, Pavia, Italy.

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http://dx.doi.org/10.1097/AUD.0000000000000198DOI Listing
September 2016

Molecular basis of inherited thrombocytopenias: an update.

Authors:
Anna Savoia

Curr Opin Hematol 2016 09;23(5):486-92

aDepartment of Medical Sciences, University of Trieste bInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1097/MOH.0000000000000269DOI Listing
September 2016

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Mol Genet Genomic Med 2015 Nov 2;3(6):500-12. Epub 2015 Jul 2.

Department of Medical SciencesUniversity of TriesteTriesteItaly; Institute for Maternal and Child Health - IRCCS Burlo GarofoloTriesteItaly.

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http://dx.doi.org/10.1002/mgg3.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694132PMC
November 2015

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome.

Blood Coagul Fibrinolysis 2015 Apr;26(3):302-8

aThe Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel bInstitute for Maternal and Child Health, IRCCS 'Burlo Garofolo' cDepartment of Medical Sciences, University of Trieste, Trieste, Italy *Hagit Hauschner and Ronit Mor-Cohen contributed equally to the writing of this article.

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http://dx.doi.org/10.1097/MBC.0000000000000241DOI Listing
April 2015

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Blood 2015 Jan 31;125(5):869-72. Epub 2014 Oct 31.

Department of Internal Medicine, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;

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http://dx.doi.org/10.1182/blood-2014-08-594531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311232PMC
January 2015

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Haematologica 2014 Aug 24;99(8):1387-94. Epub 2014 Apr 24.

Department of Medicine and Haematology, University Hospital of Verona, Verona, Italy.

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http://dx.doi.org/10.3324/haematol.2014.105924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116839PMC
August 2014

Fanconi anemia patients are more susceptible to infection with tumor virus SV40.

PLoS One 2013 18;8(11):e79683. Epub 2013 Nov 18.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy ; Department of Medical Sciences, University of Trieste, Trieste, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079683PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832620PMC
July 2014

Unusual splice site mutations disrupt FANCA exon 8 definition.

Biochim Biophys Acta 2014 Jul 1;1842(7):1052-8. Epub 2014 Apr 1.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.03.014DOI Listing
July 2014

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.

Biochim Biophys Acta 2014 Feb 8;1842(2):269-74. Epub 2013 Dec 8.

Department of Medical Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2013.12.002DOI Listing
February 2014

Genetics of familial forms of thrombocytopenia.

Hum Genet 2012 Dec 11;131(12):1821-32. Epub 2012 Aug 11.

Department of Internal Medicine, University of Pavia-IRCCS Policlinico San Matteo Foundation, Pavia, Italy.

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http://link.springer.com/10.1007/s00439-012-1215-x
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http://dx.doi.org/10.1007/s00439-012-1215-xDOI Listing
December 2012

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Br J Haematol 2011 Jul 4;154(2):161-74. Epub 2011 May 4.

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1111/j.1365-2141.2011.08716.xDOI Listing
July 2011

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.

Blood 2010 Dec 15;116(26):5832-7. Epub 2010 Sep 15.

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo Foundation-University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1182/blood-2010-08-304725DOI Listing
December 2010

Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate.

Hum Mutat 2010 Jul;31(7):794-800

Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy.

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http://dx.doi.org/10.1002/humu.21266DOI Listing
July 2010

MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.

Eur J Haematol 2010 Apr 11;84(4):291-7. Epub 2009 Dec 11.

Department of Internal Medicine, University of Pavia and IRCCS Policlinico San Matteo Foundation, Pavia.

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http://dx.doi.org/10.1111/j.1600-0609.2009.01398.xDOI Listing
April 2010

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

Platelets 2009 Dec;20(8):598-602

Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, University of Trieste, 34137 Trieste, Italy.

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http://dx.doi.org/10.3109/09537100903349620DOI Listing
December 2009

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

Thromb Haemost 2009 Dec;102(6):1241-50

Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1160/TH09-02-0119DOI Listing
December 2009

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.

Eur J Med Genet 2009 Jul-Aug;52(4):191-4. Epub 2009 Feb 9.

Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.006DOI Listing
November 2009

Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate.

Eur J Oral Sci 2008 Jun;116(3):287-90

Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics CARISBO Foundation, University of Bologna, Via Belmeloro, Bologna, Italy.

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http://dx.doi.org/10.1111/j.1600-0722.2008.00534.xDOI Listing
June 2008

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Haematologica 2007 Sep 1;92(9):1186-93. Epub 2007 Aug 1.

Medical Genetics, Department of Reproductive and Developmental Science, IRCCS Burlo Garofolo Children's Hospital, University of Trieste, Italy.

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http://dx.doi.org/10.3324/haematol.11425DOI Listing
September 2007

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Hum Mol Genet 2005 Nov 14;14(21):3169-78. Epub 2005 Sep 14.

Department of Internal Medicine, University of Pavia, Italy.

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http://dx.doi.org/10.1093/hmg/ddi344DOI Listing
November 2005

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.

Haematologica 2004 Oct;89(10):1219-25

Department of Internal Medicine, IRCCS Policlinico San Matteo-University of Pavia, Italy.

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October 2004

Inherited thrombocytopenias: molecular mechanisms.

Semin Thromb Hemost 2004 Oct;30(5):513-23

IRCCS Policlinico San Matteo, University of Pavia, Italy.

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http://dx.doi.org/10.1055/s-2004-835672DOI Listing
October 2004

Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine.

Haematologica 2003 May;88(5):582-92

Dipartimento di Medicina Interna, IRCCS Policlinico san Matteo, Università di Pavia, Italy.

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May 2003

Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).

Am J Kidney Dis 2003 Jan;41(1):95-104

Laboratory on Pathophysiology of Uremia and Laboratory of Molecular Genetics, Istituto di Ricerca e Cura a Carattere Scientifico G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1053/ajkd.2003.50028DOI Listing
January 2003

Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.

Haematologica 2002 Sep;87(9):943-7

Department of Internal Medicine, IRCCS S. Matteo Universit di Pavia, Italy.

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September 2002

Inherited thrombocytopenias: from genes to therapy.

Haematologica 2002 Aug;87(8):860-80

Medicina Interna, IRCCS San Matteo, Piazzale Golgi, 27100 Pavia, Italy.

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August 2002

Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.

J Clin Endocrinol Metab 2002 Feb;87(2):898-905

Division and Research Unit of Endocrinology and Department of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale "Casa Sollievo della Sofferenza," 71013 San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1210/jcem.87.2.8271DOI Listing
February 2002