Publications by authors named "Marco Seri"

100Publications

Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations.

Clin Transl Gastroenterol 2020 Sep;11(9):e00202

1Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy; 2Department of Surgical and Diagnostic Sciences (DISC), University of Genova; 3Department of Pathology, IRCCS Ospedale Policlinico San Martino, Genova, Italy; 4Department of Experimental, Institute of Oncology and Transplant Pathology, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy; 5Division of Thoracic Surgery- Maria Cecilia Hospital, Cotignola, Italy; 6Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy; 7Department of General Thoracic Surgery, Helsinki University Central Hospital, Helsinki, Finland; 8Department of Gastroenterology and Hepatology, Center for Experimental and Molecular Medicine, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.14309/ctg.0000000000000202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7508445PMC
September 2020

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC.

Haematologica 2020 Sep 28;Online ahead of print. Epub 2020 Sep 28.

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

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http://dx.doi.org/10.3324/haematol.2020.268516DOI Listing
September 2020

unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level.

Bioinformatics 2020 Aug 17. Epub 2020 Aug 17.

Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy.

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http://dx.doi.org/10.1093/bioinformatics/btaa730DOI Listing
August 2020

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Clin Genet 2020 Nov 1;98(5):477-485. Epub 2020 Sep 1.

IRCCS, Istituto delle Scienze Neurologiche di Bologna (Reference Center for Rare and Complex Epilepsies-EpiCARE), Bologna, Italy.

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http://dx.doi.org/10.1111/cge.13823DOI Listing
November 2020

Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].

Gene 2020 04 6;735:144393. Epub 2020 Feb 6.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144393DOI Listing
April 2020

Δ -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.

J Inherit Metab Dis 2020 Jul 9;43(4):657-670. Epub 2020 Feb 9.

Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.

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http://dx.doi.org/10.1002/jimd.12220DOI Listing
July 2020

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.

J Clin Sleep Med 2020 01 6;16(1):143-147. Epub 2019 Dec 6.

Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna,Bologna, Italy.

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http://dx.doi.org/10.5664/jcsm.8140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052993PMC
January 2020

Postmortem diagnosis of left dominant arrhythmogenic cardiomyopathy: the importance of a multidisciplinary network for sudden death victims. "HIC mors gaudet succurere vitae".

Cardiovasc Pathol 2020 Jan - Feb;44:107157. Epub 2019 Oct 10.

Cardiology, Department of Experimental Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.carpath.2019.107157DOI Listing
March 2020

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.

Hear Res 2019 09 13;381:107769. Epub 2019 Jul 13.

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

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http://dx.doi.org/10.1016/j.heares.2019.07.006DOI Listing
September 2019

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.

Gene 2019 Jul 11;706:162-171. Epub 2019 May 11.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2019.05.007DOI Listing
July 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

Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.

Interact Cardiovasc Thorac Surg 2017 11;25(5):813-817

Department of Cardiac Surgery, S.Orsola-Malpighi Policlinic Hospital and University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1093/icvts/ivx242DOI Listing
November 2017

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Eur J Med Genet 2018 Jan 9;61(1):1-7. Epub 2017 Oct 9.

Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), 1002 Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.002DOI Listing
January 2018

Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.

Genomics 2017 10 23;109(5-6):391-400. Epub 2017 Jun 23.

Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Via Massarenti 9, 40138 Bologna (BO), Italy.

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http://dx.doi.org/10.1016/j.ygeno.2017.06.004DOI Listing
October 2017

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.

Ophthalmic Genet 2017 12 4;38(6):590-592. Epub 2017 May 4.

a Medical Genetics Unit , Policlinico S. Orsola-Malpighi , Bologna , Italy.

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http://dx.doi.org/10.1080/13816810.2017.1318927DOI Listing
December 2017

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

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2016 12 9;170(12):3258-3264. Epub 2016 Sep 9.

Clinical Genetics Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37873DOI Listing
December 2016

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Hum Mol Genet 2016 06 22;25(12):2525-2538. Epub 2016 Apr 22.

Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Via Massarenti 9, 40138 Bologna, BO, Italy.

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http://dx.doi.org/10.1093/hmg/ddw116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181629PMC
June 2016

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Neurol Genet 2015 Jun 14;1(1):e5. Epub 2015 May 14.

U.O. Medical Genetics (T.P., M.S.), Polyclinic Sant'Orsola-Malpighi, Bologna, Italy; Department of Medical and Surgical Sciences (S.B., F.P., M.S.) and Department of Biomedical and Neuromotor Sciences (L.L., V.M., C.L., C.S., P.T., F.B.), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (L.L., V.M., C.L., C.S., P.T., F.B.), Bologna, Italy; Laboratory of Integrative Systems Medicine (LISM) (R.D'.A.), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa, Italy; S.C. of Neurology (G.B.), SS. Annunziata Hospital, Taranto, Italy; Epilepsy Centre (G.d'.O.), Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy; Department of Clinical and Experimental Medicine (A.M.), University of Florence, Florence, Italy; and Florey Institute (I.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821078PMC
June 2015

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.

Thromb Haemost 2016 05 14;115(5):1076-9. Epub 2016 Jan 14.

Alessandro Pecci, Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, 27100 Pavia, Italy, Tel.: +39 0382 501358, Fax: +39 0382 526223, E-mail:

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http://dx.doi.org/10.1160/TH15-11-0884DOI Listing
May 2016

Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.

J Dermatol Sci 2016 Jan 2;81(1):63-6. Epub 2015 Nov 2.

Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09231811153006
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http://dx.doi.org/10.1016/j.jdermsci.2015.10.012DOI Listing
January 2016

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.

Eur J Hum Genet 2016 Mar 27;24(3):331-7. Epub 2015 May 27.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, University of Bologna; Policlinico Sant'Orsola-Malpighi, Bologna, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755368PMC
March 2016

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Hum Mol Genet 2015 May 30;24(10):2746-56. Epub 2015 Jan 30.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy, IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Ospedale Bellaria, Bologna 40139, Italy,

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http://hmg.oxfordjournals.org/content/24/10/2746.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddv034
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http://dx.doi.org/10.1093/hmg/ddv034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406291PMC
May 2015

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Gene 2015 Apr 14;559(2):144-8. Epub 2015 Jan 14.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.01.026DOI 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

H3M2: detection of runs of homozygosity from whole-exome sequencing data.

Bioinformatics 2014 Oct 24;30(20):2852-9. Epub 2014 Jun 24.

Department of Experimental and Clinical Medicine, University of Florence, Florence 50019, Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi, Department of Medical and Surgical Sciences, University of Bologna, Bologna 40138, Diagnostic Genetic Unit, Careggi Hospital, Florence 50019, Italy and Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 EN, The Netherlands Department of Experimental and Clinical Medicine, University of Florence, Florence 50019, Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi, Department of Medical and Surgical Sciences, University of Bologna, Bologna 40138, Diagnostic Genetic Unit, Careggi Hospital, Florence 50019, Italy and Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 EN, The Netherlands.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btu401DOI Listing
October 2014

Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations.

Authors:
Jim van Os Bart P Rutten Inez Myin-Germeys Philippe Delespaul Wolfgang Viechtbauer Catherine van Zelst Richard Bruggeman Ulrich Reininghaus Craig Morgan Robin M Murray Marta Di Forti Philip McGuire Lucia R Valmaggia Matthew J Kempton Charlotte Gayer-Anderson Kathryn Hubbard Stephanie Beards Simona A Stilo Adanna Onyejiaka Francois Bourque Gemma Modinos Stefania Tognin Maria Calem Michael C O'Donovan Michael J Owen Peter Holmans Nigel Williams Nicholas Craddock Alexander Richards Isla Humphreys Andreas Meyer-Lindenberg F Markus Leweke Heike Tost Ceren Akdeniz Cathrin Rohleder J Malte Bumb Emanuel Schwarz Köksal Alptekin Alp Üçok Meram Can Saka E Cem Atbaşoğlu Sinan Gülöksüz Guvem Gumus-Akay Burçin Cihan Hasan Karadağ Haldan Soygür Eylem Şahin Cankurtaran Semra Ulusoy Berna Akdede Tolga Binbay Ahmet Ayer Handan Noyan Gülşah Karadayı Elçin Akturan Halis Ulaş Celso Arango Mara Parellada Miguel Bernardo Julio Sanjuán Julio Bobes Manuel Arrojo Jose Luis Santos Pedro Cuadrado José Juan Rodríguez Solano Angel Carracedo Enrique García Bernardo Laura Roldán Gonzalo López Bibiana Cabrera Sabrina Cruz Eva Ma Díaz Mesa María Pouso Estela Jiménez Teresa Sánchez Marta Rapado Emiliano González Covadonga Martínez Emilio Sánchez Ma Soledad Olmeda Lieuwe de Haan Eva Velthorst Mark van der Gaag Jean-Paul Selten Daniella van Dam Elsje van der Ven Floor van der Meer Elles Messchaert Tamar Kraan Nadine Burger Marion Leboyer Andrei Szoke Franck Schürhoff Pierre-Michel Llorca Stéphane Jamain Andrea Tortelli Flora Frijda Jeanne Vilain Anne-Marie Galliot Grégoire Baudin Aziz Ferchiou Jean-Romain Richard Ewa Bulzacka Thomas Charpeaud Anne-Marie Tronche Marc De Hert Ruud van Winkel Jeroen Decoster Catherine Derom Evert Thiery Nikos C Stefanis Gabriele Sachs Harald Aschauer Iris Lasser Bernadette Winklbaur Monika Schlögelhofer Anita Riecher-Rössler Stefan Borgwardt Anna Walter Fabienne Harrisberger Renata Smieskova Charlotte Rapp Sarah Ittig Fabienne Soguel-dit-Piquard Erich Studerus Joachim Klosterkötter Stephan Ruhrmann Julia Paruch Dominika Julkowski Desiree Hilboll Pak C Sham Stacey S Cherny Eric Y H Chen Desmond D Campbell Miaoxin Li Carlos María Romeo-Casabona Aitziber Emaldi Cirión Asier Urruela Mora Peter Jones James Kirkbride Mary Cannon Dan Rujescu Ilaria Tarricone Domenico Berardi Elena Bonora Marco Seri Thomas Marcacci Luigi Chiri Federico Chierzi Viviana Storbini Mauro Braca Maria Gabriella Minenna Ivonne Donegani Angelo Fioritti Daniele La Barbera Caterina Erika La Cascia Alice Mulè Lucia Sideli Rachele Sartorio Laura Ferraro Giada Tripoli Fabio Seminerio Anna Maria Marinaro Patrick McGorry Barnaby Nelson G Paul Amminger Christos Pantelis Paulo R Menezes Cristina M Del-Ben Silvia H Gallo Tenan Rosana Shuhama Mirella Ruggeri Sarah Tosato Antonio Lasalvia Chiara Bonetto Elisa Ira Merete Nordentoft Marie-Odile Krebs Neus Barrantes-Vidal Paula Cristóbal Thomas R Kwapil Elisa Brietzke Rodrigo A Bressan Ary Gadelha Nadja P Maric Sanja Andric Marina Mihaljevic Tijana Mirjanic

Schizophr Bull 2014 Jul 24;40(4):729-36. Epub 2014 May 24.

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http://dx.doi.org/10.1093/schbul/sbu069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059449PMC
July 2014

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Brain 2014 Jun 10;137(Pt 6):1643-55. Epub 2014 Apr 10.

1 Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy 2 IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Bologna, Italy

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http://brain.oxfordjournals.org/content/brain/early/2014/04/
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu069DOI Listing
June 2014

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Epilepsia 2014 Jun 1;55(6):841-8. Epub 2014 Mar 1.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/epi.12560DOI Listing
June 2014

Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.

Eur J Hum Genet 2013 Oct 6;21(10):1169-72. Epub 2013 Feb 6.

Dip. Sc. Mediche e Chirurgiche-DIMEC, U.O. Genetica Medica, Policlinico Universitario S.Orsola-Malpighi, Bologna, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778364PMC
October 2013

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Hum Mutat 2013 Jan 17;34(1):229-36. Epub 2012 Oct 17.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/humu.22233DOI Listing
January 2013

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Am J Med Genet A 2012 Apr 14;158A(4):917-21. Epub 2012 Mar 14.

Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Università di Bologna, Policlinico Sant'Orsola Malpighi, U.O. Genetica Medica, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35265DOI Listing
April 2012

Genetics of human enteric neuropathies.

Prog Neurobiol 2012 Feb 14;96(2):176-89. Epub 2012 Jan 14.

Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.pneurobio.2012.01.001DOI Listing
February 2012

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8.

Am J Med Genet A 2011 Nov 19;155A(11):2791-4. Epub 2011 Sep 19.

Unit of Medical Genetics, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34236DOI Listing
November 2011

EX-HOM (EXome HOMozygosity): a proof of principle.

Hum Hered 2011 18;72(1):45-53. Epub 2011 Aug 18.

Medical Genetics Unit, Department of Gynecological, Obstetric and Pediatric Sciences, University of Bologna, Italy.

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http://dx.doi.org/10.1159/000330164DOI Listing
January 2012

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.

Thromb Haemost 2011 Oct 11;106(4):693-704. Epub 2011 Aug 11.

Dept. of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Piazzale Golgi, 27100 Pavia, Italy.

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http://dx.doi.org/10.1160/TH11-02-0126DOI Listing
October 2011

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.

Dev Med Child Neurol 2011 Oct 18;53(10):958-61. Epub 2011 May 18.

Child Neuropsychiatric Unit, St Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2011.03993.xDOI Listing
October 2011

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

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

Blood 2009 Aug 24;114(8):1655-7. Epub 2009 Jun 24.

Unitá Operativa Genetica Medica, Policlinico Sant'Orsola-Malpighi, Dipartimento di Scienze Ginecologiche, Ostetriche Pediatriche Università degli Studi di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1182/blood-2009-04-217851DOI Listing
August 2009