Ugo Ramenghi

Ugo Ramenghi

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Ugo Ramenghi

Ugo Ramenghi

Publications by authors named "Ugo Ramenghi"

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Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.

Eur J Med Genet 2018 Nov 26;61(11):664-673. Epub 2017 Oct 26.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.10.017DOI Listing
November 2018

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

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.

J Bone Miner Res 2017 01 7;32(1):99-105. Epub 2016 Sep 7.

Humanitas Clinical and Research Institute, Rozzano, Italy.

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http://dx.doi.org/10.1002/jbmr.2929DOI Listing
January 2017

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

J Pediatr Hematol Oncol 2016 10;38(7):e260-2

*Hematology Unit, Schneider Medical Center of Israel †The Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petach Tikva, Israel Departments of ‡Medicine, Division of Hematology §Medicine, Division of Medical Genetics #Medicine **Genome Sciences §§Pediatrics, University of Washington ††Clinical Research Division, Fred Hutchinson Cancer Research Center ‡‡Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA ∥Pediatric Onco-Hematology, Regina Margherita Children's Hospital ¶Pediatric Hematology, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1097/MPH.0000000000000587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033710PMC
October 2016

Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

Immunol Lett 2016 09 1;177:22-4. Epub 2016 Jul 1.

Department of Pediatrics, University of Brescia, Italy.

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http://dx.doi.org/10.1016/j.imlet.2016.07.001DOI Listing
September 2016

Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.

Blood Cells Mol Dis 2016 09 22;60:33-5. Epub 2016 Jun 22.

Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.bcmd.2016.06.007DOI Listing
September 2016

Absolute Reticulocyte Count and Reticulocyte Hemoglobin Content as Predictors of Early Response to Exclusive Oral Iron in Children with Iron Deficiency Anemia.

Anemia 2016 22;2016:7345835. Epub 2016 Mar 22.

Hematology Unit, Department of Sciences of Public Health and Pediatrics, University of Turin, Piazza Polonia 94, 10126 Turin, Italy.

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http://dx.doi.org/10.1155/2016/7345835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820635PMC
April 2016

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.

Br J Haematol 2016 Mar 13;172(5):782-5. Epub 2016 Jan 13.

Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1111/bjh.13880DOI Listing
March 2016

Efficacy of intravenous immunoglobulin therapy in giant cell hepatitis with autoimmune hemolytic anemia: A multicenter study.

Clin Res Hepatol Gastroenterol 2016 Feb 29;40(1):83-9. Epub 2015 Jun 29.

Department of Clinical and Experimental Medicine, University of Pisa, Pediatric Gastroenterology Unit; University Hospital Santa Chiara, Pisa, Italy.

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http://dx.doi.org/10.1016/j.clinre.2015.03.009DOI Listing
February 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

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

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Pediatr Blood Cancer 2014 Jul 22;61(7):1319-21. Epub 2014 Jan 22.

Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.1002/pbc.24944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684094PMC
July 2014

Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry.

Br J Haematol 2014 Jun 24;165(5):673-81. Epub 2014 Feb 24.

Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.

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http://doi.wiley.com/10.1111/bjh.12787
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http://dx.doi.org/10.1111/bjh.12787DOI Listing
June 2014

IL-17 protects T cells from apoptosis and contributes to development of ALPS-like phenotypes.

Blood 2014 Feb 20;123(8):1178-86. Epub 2013 Dec 20.

Interdisciplinary Research Center of Autoimmune Diseases, Department of Health Sciences "A. Avogadro" University of Eastern Piedmont, Novara, Italy; and.

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http://dx.doi.org/10.1182/blood-2013-07-518167DOI Listing
February 2014

Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype.

Pediatrics 2013 Oct 16;132(4):e1052-8. Epub 2013 Sep 16.

IRCAD-Department of Health Sciences, Via Solaroli, 17, I-28100, Novara, Italy.

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http://dx.doi.org/10.1542/peds.2012-1838DOI Listing
October 2013

Successful use of antihistamines in severe hypereosinophilia.

Pediatr Rep 2012 Jul 22;4(3):e26. Epub 2012 Jun 22.

Hematology Unit, Pediatric Department, Children's Hospital Regina Margherita , Turin, Italy.

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http://dx.doi.org/10.4081/pr.2012.e26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227313PMC
July 2012

Outcomes 5 years after response to rituximab therapy in children and adults with immune thrombocytopenia.

Blood 2012 Jun 7;119(25):5989-95. Epub 2012 May 7.

Department of Pediatrics, Division of Hematology/Oncology, Platelet Disorders Research and Treatment Program, Weill Medical College of Cornell University, 525 E 68th St, New York, NY 10065, USA.

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http://dx.doi.org/10.1182/blood-2011-11-393975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3383014PMC
June 2012

Role of tissue inhibitor of metalloproteinases-1 in the development of autoimmune lymphoproliferation.

Haematologica 2010 Nov 30;95(11):1897-904. Epub 2010 Jun 30.

Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases, A AvogadroUniversity of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.3324/haematol.2010.023085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2966912PMC
November 2010

Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia.

Pediatr Blood Cancer 2010 Sep;55(3):550-3

Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy.

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http://doi.wiley.com/10.1002/pbc.22589
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http://dx.doi.org/10.1002/pbc.22589DOI Listing
September 2010

Management of chronic childhood immune thrombocytopenic purpura: AIEOP consensus guidelines.

Acta Haematol 2010 23;123(2):96-109. Epub 2009 Dec 23.

Dipartimento di Biomedicina dell'Eta Evolutiva, Universita di Bari, Azienda Ospedaliera Policlinico, Piazza G. Cesare 11, IT-0124 Bari, Italy.

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http://dx.doi.org/10.1159/000268855DOI Listing
March 2010

Severe iron overload in Blackfan-Diamond anemia: a case-control study.

Am J Hematol 2009 Nov;84(11):729-32

Department of Clinical and Biological Sciences, University of Torino, Turin, Italy.

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http://dx.doi.org/10.1002/ajh.21541DOI Listing
November 2009

Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.

Pediatr Blood Cancer 2009 Sep;53(3):411-6

Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.1002/pbc.22107DOI Listing
September 2009

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Hum Mutat 2008 Nov;29(11):E263-70

Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), Università del Piemonte Orientale, Novara, Italy.

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http://doi.wiley.com/10.1002/humu.20864
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http://dx.doi.org/10.1002/humu.20864DOI Listing
November 2008

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.

BMC Immunol 2007 Nov 13;8:28. Epub 2007 Nov 13.

Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) and Department of Medical Science, A, Avogadro University of Eastern Piedmont, Novara, Italy.

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http://bmcimmunol.biomedcentral.com/articles/10.1186/1471-21
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http://dx.doi.org/10.1186/1471-2172-8-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211507PMC
November 2007

Splenectomy in children with chronic ITP: long-term efficacy and relation between its outcome and responses to previous treatments.

Pediatr Blood Cancer 2006 Oct;47(5 Suppl):742-5

Department of Pediatrics, University of Torino, Torino, and Department of Pediatrics, Umberto I hospital, Nocera Inferiore, Italy.

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http://dx.doi.org/10.1002/pbc.20978DOI Listing
October 2006

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.

Hum Mutat 2004 Dec;24(6):526-33

Department of Biology, University Tor Vergata, Roma, Italy.

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http://dx.doi.org/10.1002/humu.20117DOI Listing
December 2004

Severe malignant osteopetrosis caused by a GL gene mutation.

J Bone Miner Res 2004 Jul 12;19(7):1194-9. Epub 2004 Apr 12.

Dipartimento di Scienze Pediatriche, Università di Torino, Turin, Italy.

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http://doi.wiley.com/10.1359/JBMR.040407
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http://dx.doi.org/10.1359/JBMR.040407DOI Listing
July 2004

Role of inherited defects decreasing Fas function in autoimmunity.

Life Sci 2003 May;72(25):2803-24

Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) and Department of Medical Sciences, "A. Avogadro" University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy.

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http://dx.doi.org/10.1016/s0024-3205(03)00196-6DOI Listing
May 2003

Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin.

Eur J Pediatr 2002 Sep 13;161(9):499-502. Epub 2002 Aug 13.

Haematology Unit, Paediatric Department, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.

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http://link.springer.com/10.1007/s00431-002-1019-4
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http://dx.doi.org/10.1007/s00431-002-1019-4DOI Listing
September 2002