Publications by authors named "Fiorella Gurrieri"

42Publications

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Acta Derm Venereol 2020 Jan 23;100(1):adv00038. Epub 2020 Jan 23.

Institute of Genomic Medicine, F. Policlinico Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo F. Vito 1, IT-00168 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3370DOI Listing
January 2020

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Eur J Paediatr Neurol 2018 Mar 31;22(2):264-271. Epub 2018 Jan 31.

Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, Giannina Gaslini Institute, University of Genoa, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.010DOI Listing
March 2018

ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.

J Neurol Sci 2017 08 22;379:36-38. Epub 2017 May 22.

Fondazione San Camillo Hospital IRCCS, Lido Venice, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.05.041DOI Listing
August 2017

Recognizable facial features in patients with alternating hemiplegia of childhood.

Am J Med Genet A 2016 10 17;170(10):2698-705. Epub 2016 Jun 17.

Istituto di Medicina Genomica, Università Cattolica del S. Cuore Roma, Roma, Lazio, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37808DOI Listing
October 2016

Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.

Childs Nerv Syst 2016 Jun 28;32(6):1061-7. Epub 2016 Apr 28.

Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore "A. Gemelli", L.go Francesco Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s00381-016-3087-1DOI Listing
June 2016

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

Eur J Med Genet 2015 Sep 17;58(9):488-91. Epub 2015 Jul 17.

UO Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.06.009DOI Listing
September 2015

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

Eur J Med Genet 2015 Aug 24;58(8):400-5. Epub 2015 Jun 24.

Institute of Medical Genetics, Università Cattolica S. Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.06.001DOI Listing
August 2015

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor.

Am J Med Genet A 2013 Nov 3;161A(11):2687-90. Epub 2013 Oct 3.

Chair of Medical Genetics, Department of Biomedical, Clinical and Experimental Sciences, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36261DOI Listing
November 2013

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.

Am J Med Genet A 2013 Nov 24;161A(11):2860-72. Epub 2013 Sep 24.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36239DOI Listing
November 2013

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Hum Mol Genet 2012 Nov 21;21(22):4930-8. Epub 2012 Aug 21.

Department of Bioengineering and Therapeutic Sciences and 2Institute for Human Genetics, University of California-San Francisco, CA, USA.

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http://dx.doi.org/10.1093/hmg/dds336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529576PMC
November 2012

Working up autism: the practical role of medical genetics.

Am J Med Genet C Semin Med Genet 2012 May 12;160C(2):104-10. Epub 2012 Apr 12.

Medical Genetics, Catholic University of Rome, School of Medicine, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.c.31326DOI Listing
May 2012

Defective oxytocin function: a clue to understanding the cause of autism?

BMC Med 2009 Oct 22;7:63. Epub 2009 Oct 22.

Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy.

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http://dx.doi.org/10.1186/1741-7015-7-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770459PMC
October 2009

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Autism Res 2009 Aug;2(4):232-6

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/aur.87DOI Listing
August 2009

Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders.

J Proteome Res 2008 Dec;7(12):5327-32

Istituto di Biochimica e Biochimica Clinica, Facoltà di Medicina, Università Cattolica, Rome, Italy.

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http://dx.doi.org/10.1021/pr8004088DOI Listing
December 2008

Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes.

Endocr Dev 2009 27;14:20-8. Epub 2009 Feb 27.

Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1159/000207473DOI Listing
May 2009

Elements of morphology: standard terminology for the hands and feet.

Am J Med Genet A 2009 Jan;149A(1):93-127

National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1002/ajmg.a.32596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224990PMC
January 2009

Oral-facial-digital syndromes: review and diagnostic guidelines.

Am J Med Genet A 2007 Dec;143A(24):3314-23

Istituto di Genetica Medica, Università Cattolica Facoltà di Medicina, Roma, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.32032
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http://dx.doi.org/10.1002/ajmg.a.32032DOI Listing
December 2007

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Am J Med Genet A 2004 Apr;126A(2):204-7

Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.20575
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http://dx.doi.org/10.1002/ajmg.a.20575DOI Listing
April 2004

Limb anomalies: Developmental and evolutionary aspects.

Am J Med Genet 2002 Dec;115(4):231-44

Institute of Medical Genetics, Catholic University of Rome, Largo F. Vito 1, 00168 Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.10981DOI Listing
December 2002