Publications by authors named "Maria Teresa Bonati"

27Publications

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

Eur J Hum Genet 2020 Oct 8;28(10):1432-1445. Epub 2020 Jun 8.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), Università degli Studi di Milano, Segrate, Italy.

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http://dx.doi.org/10.1038/s41431-020-0658-0DOI Listing
October 2020

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Neurogenetics 2019 08 17;20(3):145-154. Epub 2019 Jun 17.

Research Lab of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-019-00581-6DOI Listing
August 2019

A novel nonsense pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

Mol Genet Metab Rep 2017 Dec 21;13:14-17. Epub 2017 Jul 21.

Neurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2017.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522958PMC
December 2017

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

J Hum Genet 2016 Apr 10;61(4):283-93. Epub 2015 Dec 10.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2015.144DOI Listing
April 2016

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.

Eur J Hum Genet 2015 Nov 25;23(11):1531-7. Epub 2015 Feb 25.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613488PMC
November 2015

Heritability of blood pressure through latent curve trajectories in families from the Gubbio population study.

J Hypertens 2014 Nov;32(11):2179-87

aIstituto Auxologico Italiano, IRCCS, Milan bDipartimento di Scienze del Sistema Nervoso e del Comportamento, Università di Pavia cDipartimento di Sanità Pubblica, Medicina Sperimentale e Forense, Università di Pavia dCentro di Medicina Preventiva, Gubbio eDipartimento di Medicina e Chirurgia, Università di Salerno fAssociation for Cardiac Research, Rome gDipartimento di Medicina Clinica e Sperimentale, Università Federico II, Napoli hUniversità di Milano, Centro di Fisiologia Clinica e Ipertensione, Italy.

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http://dx.doi.org/10.1097/HJH.0000000000000311DOI Listing
November 2014

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

Neurogenetics 2006 Mar 20;7(1):59-66. Epub 2006 Jan 20.

Department of Biology and Genetics, Medical Faculty, University of Milan, Via Viotti 3/5, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-005-0026-9DOI Listing
March 2006

Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.

Am J Med Genet A 2005 Mar;133A(2):184-8

Clinic of Medical Genetics, Istituto Auxologico Italiano, Via Viotti 3/5, 20133 Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30503DOI Listing
March 2005

Genetics in restless legs syndrome.

Sleep Med 2004 May;5(3):301-4

Sleep Disorders Center, University Vita-Salute San Raffaele and Human Molecular Genetics Unit, Dibit-San Raffaele Hospital, Via Stamina d'Ancona 20, 20122 Milano, Italy.

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http://dx.doi.org/10.1016/j.sleep.2004.01.005DOI Listing
May 2004

Autosomal dominant restless legs syndrome maps on chromosome 14q.

Brain 2003 Jun;126(Pt 6):1485-92

Human Molecular Genetics Unit, Department of Neuroscience, Dibit-San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1093/brain/awg137DOI Listing
June 2003