Publications by authors named "Donatella Greco"

16Publications

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 2020

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.

G Ital Dermatol Venereol 2016 Oct;151(5):582-5

Laboratorio di Genetica Molecolare, Unità Operativa Complessa di Genetica Medica, IRCCS Associazione Oasi Maria SS., Troina, Enna, Italy -

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October 2016

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Am J Med Genet A 2013 Dec 24;161A(12):3018-22. Epub 2013 Sep 24.

Unit of Psychology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36142DOI Listing
December 2013

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.

Gene 2014 Jan 8;534(2):435-9. Epub 2013 Oct 8.

Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy; Medical Genetics, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1016/j.gene.2013.09.120DOI Listing
January 2014

Cutaneous atrophic guttate lesions in a linear and reticulate pattern: a quiz. Diagnosis: Focal dermal hypoplasia (Goltz syndrome).

Acta Derm Venereol 2013 Jan;93(1):124, 126

Department of Human Pathology, University of Messina, pad. D, IT-98125 Messina, Italy.

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http://dx.doi.org/10.2340/00015555-1383DOI Listing
January 2013

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome.

Int J Dermatol 2008 Apr;47(4):374-6

Unit of Dermatology, Oasi Institute (IRCCS), Troina, Italy.

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http://dx.doi.org/10.1111/j.1365-4632.2008.03440.xDOI Listing
April 2008

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

Prenat Diagn 2006 Dec;26(12):1156-9

UO di Genetica Medica, Università di Bologna-Policlinico, S.Orsola-Malpighi, Bologna, Italy.

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http://dx.doi.org/10.1002/pd.1577DOI Listing
December 2006