Pamela Magini

Pamela Magini

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Pamela Magini

Pamela Magini

Publications by authors named "Pamela Magini"

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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

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

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

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

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

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.

Am J Med Genet A 2013 Oct 6;161A(10):2559-63. Epub 2013 Aug 6.

Cytogenetic Laboratory, Unit of Obstetrics and Gynecology, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36035DOI Listing
October 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

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

Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.

J Med Genet 2011 Nov 16;48(11):779-82. Epub 2011 Sep 16.

Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche-Unità Operativa di Genetica Medica, Università di Bologna-Policlinico S.Orsola-Malpighi, Via Massarenti, Bologna, Italy.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100152
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http://dx.doi.org/10.1136/jmedgenet-2011-100152DOI Listing
November 2011

Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers.

Gynecol Oncol 2011 Aug 18;122(2):457-8. Epub 2011 May 18.

Dip. di Scienze Ginecologiche, Ostetriche e Pediatriche, U.O. Genetica Medica, Pol. Universitario S.Orsola-Malpighi, 40138, Bologna, Italy.

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http://dx.doi.org/10.1016/j.ygyno.2011.04.036DOI Listing
August 2011

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