Publications by authors named "Enrico Grosso"

38Publications

Biallelic mutations in the gene cause a novel primary ciliopathy.

J Med Genet 2020 Aug 3. Epub 2020 Aug 3.

Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy

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http://dx.doi.org/10.1136/jmedgenet-2020-106833DOI Listing
August 2020

Molecular characterisation and clinical correlation of papillary thyroid microcarcinoma.

Endocrine 2020 Jul 3. Epub 2020 Jul 3.

Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Città della Salute e della Scienza, Torino, Italy.

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http://dx.doi.org/10.1007/s12020-020-02380-8DOI Listing
July 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

On the Complexity of Visual Judgement of Kinship.

Iperception 2019 May-Jun;10(3):2041669519841642. Epub 2019 May 6.

University of Sassari, Italy.

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http://dx.doi.org/10.1177/2041669519841642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505255PMC
May 2019

Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification.

J Neurol Sci 2017 06 31;377:62-64. Epub 2017 Mar 31.

Koelliker Hospital, 10134 Torino, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, 10126 Torino, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.03.053DOI Listing
June 2017

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

Eur J Med Genet 2017 Apr 31;60(4):224-227. Epub 2017 Jan 31.

Città Della Salute e Della Scienza University Hospital, Medical Genetics Unit, Turin, 10126 Italy; University of Torino, Department of Medical Sciences, Turin, 10126, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.010DOI Listing
April 2017

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

Case Rep Genet 2014 23;2014:470830. Epub 2014 Nov 23.

Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy ; Medical Genetics, "Città della Salute e della Scienza" University Hospital, 10126 Torino, Italy.

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http://dx.doi.org/10.1155/2014/470830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259072PMC
December 2014

Regulation of aromatase expression in breast cancer treated with anastrozole neoadjuvant therapy.

Exp Ther Med 2013 Mar 24;5(3):902-906. Epub 2012 Dec 24.

Cancer Genomics Laboratory, Fondazione Edo ed Elvo Tempia Valenta, Biella;

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http://dx.doi.org/10.3892/etm.2012.878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570232PMC
March 2013

Life-threatening tumors of the heart in fetal and postnatal age.

J Pediatr 2013 May 7;162(5):964-9.e1. Epub 2012 Dec 7.

Department of Anatomic Pathology, University Hospital, Pisa, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2012.10.055DOI Listing
May 2013

A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.

Gene 2012 Dec 13;511(1):103-5. Epub 2012 Sep 13.

Unità Operativa di Genetica medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.

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http://dx.doi.org/10.1016/j.gene.2012.08.040DOI Listing
December 2012

Effects of inositol supplementation in a cohort of mothers at risk of producing an NTD pregnancy.

Birth Defects Res A Clin Mol Teratol 2011 Nov 28;91(11):962-5. Epub 2011 Sep 28.

Servizio di Genetica, AO Istituti Ospitalieri, Cremona, Italy.

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http://dx.doi.org/10.1002/bdra.22853DOI Listing
November 2011

A markerless estimation of the ankle-foot complex 2D kinematics during stance.

Gait Posture 2011 Apr 4;33(4):532-7. Epub 2011 Feb 4.

Biomedical Sciences Department, University of Sassari, Sassari, Italy.

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http://dx.doi.org/10.1016/j.gaitpost.2011.01.003DOI Listing
April 2011

Visual judgments of kinship: an alternative perspective.

Perception 2011 ;40(11):1282-9

DEIR, University of Sassari, Via Torre Tonda 34, 07100 Sassari, Italy.

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http://dx.doi.org/10.1068/p6916DOI Listing
April 2012

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.

Mov Disord 2010 Jul;25(9):1269-73

Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy.

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http://dx.doi.org/10.1002/mds.22835DOI Listing
July 2010

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

Eur J Pediatr 2010 Oct 15;169(10):1255-61. Epub 2010 May 15.

UOD Genetica Medica, Dipartimento Area Salute della Donna del Bambino e del Neonato Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1007/s00431-010-1221-8DOI Listing
October 2010

Altered molecular pathways in melanocytic lesions.

Int J Cancer 2010 Apr;126(8):1869-1881

Cancer Genomics Lab, Fondo Edo Tempia, Biella, Italy.

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http://dx.doi.org/10.1002/ijc.24899DOI Listing
April 2010

Evolutionary and clinical neocentromeres: two faces of the same coin?

Chromosoma 2008 Aug 15;117(4):339-44. Epub 2008 Feb 15.

Department of Genetics and Microbiology, University of Bari, Bari, Italy.

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http://dx.doi.org/10.1007/s00412-008-0150-zDOI Listing
August 2008

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.

J Neurol 2002 Jul;249(7):923-9

Unità Operativa Universitaria di Genetica Medica, Azienda Ospedaliera S. Giovanni Battista, via Santena 19, 10126, Torino, Italy.

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http://dx.doi.org/10.1007/s00415-002-0760-yDOI Listing
July 2002