Publications by authors named "Tiziano Pramparo"

38Publications

The ASD Living Biology: from cell proliferation to clinical phenotype.

Mol Psychiatry 2019 01 22;24(1):88-107. Epub 2018 Jun 22.

Department of Pediatrics, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41380-018-0056-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309606PMC
January 2019

Hierarchical cortical transcriptome disorganization in autism.

Mol Autism 2017 21;8:29. Epub 2017 Jun 21.

Department of Neurosciences, UC San Diego Autism Center, School of Medicine University of California, San Diego, La Jolla, CA USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13229-017-0147-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480153PMC
March 2018

Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.

JAMA Psychiatry 2015 Apr;72(4):386-94

UC San Diego Autism Center of Excellence, Department of Neuroscience, University of California, San Diego School of Medicine, La Jolla.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamapsychiatry.2014.3008DOI Listing
April 2015

Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.

PLoS Genet 2012 22;8(3):e1002592. Epub 2012 Mar 22.

Department of Neuroscience, NIH-UCSD Autism Center of Excellence, School of Medicine, University of California San Diego, La Jolla, California, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1002592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3310790PMC
September 2012

Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.

PLoS Genet 2011 Mar 10;7(3):e1001331. Epub 2011 Mar 10.

Department of Pediatrics and Institute for Human Genetics, School of Medicine, University of California San Francisco, San Francisco, California, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1001331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053345PMC
March 2011

PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.

J Cell Sci 2011 Mar 1;124(Pt 5):745-54. Epub 2011 Feb 1.

Department of Orofacial Sciences and Program in Craniofacial and Mesenchymal Biology, University of California, San Francisco, CA 94143, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/jcs.078071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039019PMC
March 2011

Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.

Semin Cell Dev Biol 2010 Oct 3;21(8):823-30. Epub 2010 Aug 3.

UCSF School of Medicine, Department of Pediatrics, San Francisco, CA 94143, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semcdb.2010.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967611PMC
October 2010

Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction.

J Neurosci 2010 Feb;30(8):3002-12

Department of Pediatrics, University of California, San Francisco, School of Medicine, San Francisco, California 94143-0794, USA.

View Article

Download full-text PDF

Source
http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.4851-09.2
Publisher Site
http://dx.doi.org/10.1523/JNEUROSCI.4851-09.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861429PMC
February 2010

Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice.

J Neurosci 2009 Dec;29(49):15520-30

Department of Pediatrics, Institute for Human Genetics, University of California, San Francisco School of Medicine, San Francisco, California 94143-0794, USA.

View Article

Download full-text PDF

Source
http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.4630-09.2
Publisher Site
http://dx.doi.org/10.1523/JNEUROSCI.4630-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824645PMC
December 2009

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Eur J Hum Genet 2008 Aug 12;16(8):880-7. Epub 2008 Mar 12.

Servizio Neuropsichiatria Infantile, Policlinico GB Rossi, Università di Verona, Verona, Italy.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg200842
Publisher Site
http://dx.doi.org/10.1038/ejhg.2008.42DOI Listing
August 2008

Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division.

Cell 2008 Feb;132(3):474-86

Departments of Pediatrics and Medicine, Center for Human Genetics and Genomics, UCSD School of Medicine, 9500 Gilman Drive, La Jolla, CA 92098-0627, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S009286740800126
Publisher Site
http://dx.doi.org/10.1016/j.cell.2008.01.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265303PMC
February 2008

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.

Hum Genet 2007 May 31;121(3-4):441-50. Epub 2007 Jan 31.

Department of Molecular Biology and Functional Genomics, San Raffaele Scientific Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-007-0329-zDOI Listing
May 2007

A patient with duplication (7)(p22.1pter) characterized by array-CGH.

Am J Med Genet A 2007 Jan;143A(2):168-71

Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31511DOI Listing
January 2007

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Eur J Hum Genet 2007 Jan 25;15(1):76-80. Epub 2006 Oct 25.

Laboratorio di Citogenetica, Istituto G Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201719DOI Listing
January 2007

Subtelomeric trisomy 21q: a new benign chromosomal variant.

Eur J Med Genet 2007 Jan-Feb;50(1):54-9. Epub 2006 Sep 10.

IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2006.07.001DOI Listing
March 2007

Narrowing the deleted region associated with the 15q21 syndrome.

Eur J Med Genet 2005 Jul-Sep;48(3):346-52

Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini, 14-27100 Pavia, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212050009
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2005.04.012DOI Listing
November 2005

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Hum Genet 2005 Nov 15;118(2):207-13. Epub 2005 Nov 15.

Biologia Generale e Genetica Medic, Università di Pavia, Via forlanini, 14-27100, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-005-0008-xDOI Listing
November 2005

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

Am J Med Genet A 2005 Mar;133A(2):189-92

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30519DOI Listing
March 2005

TBX1 is required for inner ear morphogenesis.

Hum Mol Genet 2003 Aug;12(16):2041-8

Department of Pediatrics (Cardiology), Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddg216DOI Listing
August 2003