Publications by authors named "Mirella Vinci"

20Publications

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.

Dermatol Online J 2020 Jul 15;26(7). Epub 2020 Jul 15.

Oasi Research Institute - IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Troina.

View Article

Download full-text PDF

Source
July 2020

Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.

Medicina (Kaunas) 2020 Aug 1;56(8). Epub 2020 Aug 1.

Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, 90128 Palermo, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/medicina56080387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466289PMC
August 2020

GRIN2A: involvement in movement disorders and intellectual disability without seizures.

Neurol Sci 2019 Nov 16;40(11):2405-2406. Epub 2019 May 16.

Oasi Research Institute-IRCCS, Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-03923-2DOI Listing
November 2019

Novel c.C2254T (p.Q752*) mutation in (SPG15) gene in a patient with hereditary spastic paraparesis.

J Genet 2018 Dec;97(5):1469-1472

Oasi Research Institute-IRCCS, Troina 94018, Italy.

View Article

Download full-text PDF

Source
December 2018

Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.

G Ital Dermatol Venereol 2020 Apr 16;155(2):239-240. Epub 2018 May 16.

Laboratory of Molecular Genetics, Oasi Research Institute-IRCCS, Troina, Enna, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23736/S0392-0488.18.05931-XDOI Listing
April 2020

Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.

J Clin Lab Anal 2016 May 26;30(3):196-9. Epub 2014 Dec 26.

Section of Endocrinology, Andrology and Internal Medicine, Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcla.21835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807182PMC
May 2016

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.

Am J Med Genet A 2013 Jun 23;161A(6):1381-5. Epub 2013 Apr 23.

Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35860DOI Listing
June 2013