Publications by authors named "Maria Clara Bonaglia"

32Publications

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

Eur J Med Genet 2018 May 20;61(5):248-252. Epub 2017 Dec 20.

Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.12.008DOI Listing
May 2018

Role of mycotoxins in the pathobiology of autism: A first evidence.

Nutr Neurosci 2019 Feb 10;22(2):132-144. Epub 2017 Aug 10.

c Scientific Institute, IRCCS Eugenio Medea , Via Don Luigi Monza, 20-23842 Bosisio Parini , LC , Italy.

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http://dx.doi.org/10.1080/1028415X.2017.1357793DOI Listing
February 2019

Partial deletion of in a child with focal epilepsy.

Epilepsia Open 2016 12 25;1(3-4):140-144. Epub 2016 Aug 25.

Unit of Clinical Neurophysiology Scientific Institute, IRCCS Eugenio Medea Bosisio Parini Lecco Italy.

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http://doi.wiley.com/10.1002/epi4.12012
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http://dx.doi.org/10.1002/epi4.12012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719828PMC
December 2016

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

Mol Cytogenet 2015 14;8:89. Epub 2015 Nov 14.

Unit of Clinical Neurophysiology, Scientific Institute IRCCS E. Medea, Bosisio Parini, LC Italy.

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http://dx.doi.org/10.1186/s13039-015-0193-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650292PMC
November 2015

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

Mol Cytogenet 2014 5;7:53. Epub 2014 Aug 5.

Unit for Severe Disabilities in Developmental Age, Scientific Insitute, IRCCs Eugenio Medea, Udine, Italy.

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http://dx.doi.org/10.1186/1755-8166-7-53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131807PMC
August 2014

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

Eur J Med Genet 2014 Jul 26;57(7):334-8. Epub 2014 Apr 26.

Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza, 20, 23842 Bosisio Parini, Lecco, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212140009
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http://dx.doi.org/10.1016/j.ejmg.2014.04.009DOI Listing
July 2014

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

Mol Cytogenet 2013 Nov 8;6(1):49. Epub 2013 Nov 8.

Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Via Don Luigi Monza, 20, 23842 Bosisio Parini(LC), Italy.

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http://dx.doi.org/10.1186/1755-8166-6-49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176195PMC
November 2013

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

Eur J Hum Genet 2013 Jul 17;21(7):757-61. Epub 2012 Oct 17.

Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722940PMC
July 2013

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.

Am J Med Genet A 2011 Apr 15;155A(4):915-9. Epub 2011 Mar 15.

AbaCid-Genética, Grupo Hospital de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.33924DOI Listing
April 2011

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

Eur J Med Genet 2008 Mar-Apr;51(2):148-55. Epub 2007 Dec 8.

IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2007.11.005DOI Listing
June 2008

DNA methylation regulates tissue-specific expression of Shank3.

J Neurochem 2007 Jun 10;101(5):1380-91. Epub 2007 Apr 10.

E. Medea Scientific Institute, Bosisio Parini, LC, Italy.

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http://dx.doi.org/10.1111/j.1471-4159.2007.04539.xDOI Listing
June 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.

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