Vanna Pecile

Vanna Pecile

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Vanna Pecile

Vanna Pecile

Publications by authors named "Vanna Pecile"

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42Publications

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Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.

J Hum Genet 2019 Nov 11;64(11):1075-1081. Epub 2019 Sep 11.

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

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http://dx.doi.org/10.1038/s10038-019-0666-5DOI Listing
November 2019

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.

Am J Med Genet A 2017 Jul 14;173(7):1970-1974. Epub 2017 Apr 14.

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

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http://dx.doi.org/10.1002/ajmg.a.38256DOI Listing
July 2017

A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome.

J Ultrasound Med 2016 Jun;35(6):1359-61

Department of Obstetrics and Gynecology, Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.7863/ultra.15.07045DOI Listing
June 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

When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication.

J Investig Med High Impact Case Rep 2015 Jan-Mar;3(1):2324709615574949. Epub 2015 Feb 18.

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

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http://dx.doi.org/10.1177/2324709615574949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586914PMC
October 2015

CTNND2 deletion and intellectual disability.

Gene 2015 Jul 1;565(1):146-9. Epub 2015 Apr 1.

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

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http://dx.doi.org/10.1016/j.gene.2015.03.054DOI Listing
July 2015

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features.

Zdr Varst 2015 Jun 13;54(2):69-73. Epub 2015 Mar 13.

University Medical Centre Ljubljana, University Children's Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1515/sjph-2015-0010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820169PMC
June 2015

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Genet Med 2015 May 18;17(5):396-9. Epub 2014 Sep 18.

1] Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.

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http://dx.doi.org/10.1038/gim.2014.118DOI Listing
May 2015

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Gene 2014 Jul 14;545(2):290-2. Epub 2014 May 14.

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

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http://dx.doi.org/10.1016/j.gene.2014.05.028DOI Listing
July 2014

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

Eur J Hum Genet 2013 Feb 2;21(2):229-32. Epub 2012 May 2.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548258PMC
February 2013

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

Eur J Med Genet 2013 Jan 7;56(1):62-5. Epub 2012 Nov 7.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.008DOI Listing
January 2013

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Am J Med Genet A 2012 Apr 9;158A(4):882-7. Epub 2012 Mar 9.

S.C. Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.35239
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http://dx.doi.org/10.1002/ajmg.a.35239DOI Listing
April 2012

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Gene 2012 Jan 28;492(1):315-8. Epub 2011 Oct 28.

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

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http://linkinghub.elsevier.com/retrieve/pii/S037811191100612
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http://dx.doi.org/10.1016/j.gene.2011.10.035DOI Listing
January 2012

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report.

J Med Case Rep 2011 Jun 21;5:222. Epub 2011 Jun 21.

Neonatal Intensive Care Unit, Institute for Maternal and Child Health Burlo Garofolo, Via dell'Istria 65/1, 34100, Trieste, Italy.

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/1752-1947-5-222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141689PMC
June 2011

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

J Appl Genet 2011 Feb 3;52(1):77-80. Epub 2010 Nov 3.

Department of Reproductive Sciences and Development, Institute of Child Health-IRCCS Burlo Garofolo, Via dell'Istria 65, 34137, Trieste, Italy.

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http://link.springer.com/10.1007/s13353-010-0004-2
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http://dx.doi.org/10.1007/s13353-010-0004-2DOI Listing
February 2011

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

J Med Genet 2010 Jun 20;47(6):429-32. Epub 2009 Oct 20.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico A.Gemelli, Largo F. Vito 1, Roma 00168, Italy.

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http://dx.doi.org/10.1136/jmg.2009.071142DOI Listing
June 2010

Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication.

Ophthalmic Genet 2009 Jun;30(2):103-5

Department of Surgery, Ophthalmology Unit, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

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http://www.tandfonline.com/doi/full/10.1080/1381681080259255
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http://dx.doi.org/10.1080/13816810802592559DOI Listing
June 2009

Trisomy 12p and monosomy 4p: phenotype-genotype correlation.

Genet Test Mol Biomarkers 2009 Apr;13(2):199-204

S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0109DOI Listing
April 2009

1q44-qter trisomy: clinical report and review of the literature.

Genet Test Mol Biomarkers 2009 Feb;13(1):79-86

Molecular Cytogenetic Laboratory, Pediatrics Department, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0075DOI Listing
February 2009

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Am J Med Genet C Semin Med Genet 2008 Nov;148C(4):257-69

Department of Medical Genetics, Università Cattolica Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.c.30190DOI Listing
November 2008

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.

Am J Med Genet A 2004 Oct;130A(3):288-94

Medical Genetics Service, Children Hospital I.R.C.C.S. "Burlo Garofolo," Trieste, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20677DOI Listing
October 2004

Anthracyclines in Nijmegen breakage syndrome.

Med Pediatr Oncol 2003 Feb;40(2):122-4

Department of Pediatric Onco-Haematology, Institute of Maternal and Child Health I.R.C.C.S., Burlo Garofolo--Trieste, Italy.

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http://dx.doi.org/10.1002/mpo.10079DOI Listing
February 2003