Publications by authors named "Ilaria Parenti"

20Publications

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Clin Genet 2020 Oct 3. Epub 2020 Oct 3.

Children's Hospital of Philadelphia, Division of Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1111/cge.13851DOI Listing
October 2020

Neurodevelopmental Disorders: From Genetics to Functional Pathways.

Trends Neurosci 2020 Aug 5;43(8):608-621. Epub 2020 Jun 5.

Institute of Science and Technology Austria, Klosterneuburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2020.05.004DOI Listing
August 2020

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Int J Mol Sci 2020 Feb 4;21(3). Epub 2020 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms21031042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038094PMC
February 2020

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Clin Genet 2020 01 24;97(1):3-11. Epub 2019 Nov 24.

Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1111/cge.13674DOI Listing
January 2020

Mosaic Intronic Variant in a Family With Cornelia de Lange Syndrome.

Front Genet 2018 13;9:255. Epub 2018 Jul 13.

Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.

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http://dx.doi.org/10.3389/fgene.2018.00255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053508PMC
July 2018

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Eur J Med Genet 2018 Nov 15;61(11):680-684. Epub 2017 Nov 15.

Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.004DOI Listing
November 2018

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

J Hum Genet 2014 Nov 2;59(11):631-7. Epub 2014 Oct 2.

1] Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy [2] Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2014.84DOI Listing
November 2014

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Hum Mutat 2015 Jan 2;36(1):26-9. Epub 2014 Dec 2.

Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/humu.22685DOI Listing
January 2015

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

Epigenetics 2014 Jul 22;9(7):973-9. Epub 2014 Apr 22.

Medical Genetics; Department of Health Sciences; Università degli Studi di Milano; Milan, Italy; Laboratory of Medical Cytogenetics and Molecular Genetics; IRCCS Istituto Auxologico Italiano; Milan, Italy.

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http://dx.doi.org/10.4161/epi.28903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143412PMC
July 2014

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Eur J Med Genet 2013 Mar 8;56(3):138-43. Epub 2013 Jan 8.

Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Via A. di Rudinì 8, 20142 Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.009DOI Listing
March 2013