Publications by authors named "Teresa Mattina"

36Publications

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

Int J Dev Neurosci 2020 Jun 25;80(4):276-286. Epub 2020 Mar 25.

Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/jdn.10024DOI Listing
June 2020

Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.

Am J Med Genet A 2019 01 13;179(1):71-77. Epub 2018 Nov 13.

Division of Pediatric Cardiology, University of California San Diego School of Medicine, San Diego, California.

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http://dx.doi.org/10.1002/ajmg.a.40481DOI Listing
January 2019

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1.

J Orthop Case Rep 2017 May-Jun;7(3):63-66

Department of Orthopaedics and Traumatologic Surgery, Ospedaliero - Universitaria Policlinico-Vittorio Emanuele, University of Catania, Catania, Italy.

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http://dx.doi.org/10.13107/jocr.2250-0685.808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635191PMC
October 2017

Chromosome 15 structural abnormalities: effect on gene expression and function.

Endocr Connect 2017 Oct;6(7):528-539

Department of Clinical and Experimental MedicineUniversity of Catania, Catania, Italy

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http://dx.doi.org/10.1530/EC-17-0158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597972PMC
October 2017

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.

Mol Syndromol 2017 May 16;8(3):131-138. Epub 2017 Feb 16.

Molecular Genetics Unit, Azienda Ospedaliero-Universitaria (AOU) Pisana, Pisa, Italy.

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http://dx.doi.org/10.1159/000456062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448444PMC
May 2017

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

Am J Med Genet A 2017 Jun 13;173(6):1649-1655. Epub 2017 Apr 13.

Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38205DOI Listing
June 2017

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

Am J Med Genet A 2014 Mar 23;164A(3):828-33. Epub 2014 Jan 23.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.36363DOI Listing
March 2014

Growth hormone, gender and face shape in Prader-Willi syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2453-63. Epub 2013 Aug 5.

Molecular Medicine Unit, UCL Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.36100
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http://dx.doi.org/10.1002/ajmg.a.36100DOI Listing
October 2013

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.

Eur J Med Genet 2012 Dec 29;55(12):747-52. Epub 2012 Sep 29.

Medical Genetics University of Catania, Department of Pediatrics Building 4, Via Santa Sofia 78, 95123 Catania, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.09.006DOI Listing
December 2012

Mild cystic fibrosis in patients with the rare P5L CFTR mutation.

J Cyst Fibros 2012 Jan 7;11(1):30-3. Epub 2011 Oct 7.

Department of Pediatrics, Bronchopneumology Unit, University of Catania, Italy.

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http://dx.doi.org/10.1016/j.jcf.2011.08.009DOI Listing
January 2012

Jacobsen syndrome.

Orphanet J Rare Dis 2009 Mar 7;4. Epub 2009 Mar 7.

Genetica Medica, Department of Pediatrics, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1186/1750-1172-4-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670819PMC
March 2009

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.

Mol Diagn 2005 ;9(4):201-4

Department of Biomedical Sciences, Section of Clinical Pathology and Molecular Oncology, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1007/BF03260092DOI Listing
March 2006

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.

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

The 11q terminal deletion disorder: a prospective study of 110 cases.

Am J Med Genet A 2004 Aug;129A(1):51-61

Division of Pediatric Cardiology, Department of Pediatrics University of California, San Diego, CA 92123, USA.

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http://dx.doi.org/10.1002/ajmg.a.30090DOI Listing
August 2004

Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.

Gene 2004 May;333:111-9

Dipartimento di Pediatria, University of Catania, via S. Sofia 78, Catania I-95123, Italy.

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http://dx.doi.org/10.1016/j.gene.2004.02.029DOI Listing
May 2004

Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion.

J Child Neurol 2003 Jan;18(1):79-81

Department of Pediatrics and Pediatric Neurology, Azienda Policlinico, University of Catania, Italy.

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http://dx.doi.org/10.1177/08830738030180012001DOI Listing
January 2003