Publications by authors named "Pinella Failla"

16Publications

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.

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July 2020

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.

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

An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.

Eur J Dermatol 2018 02;28(1):119-120

Oasi Institute for Research on Mental Retardation and Brain Aging(IRCCS) - Via Conte Ruggero, 73 - 94018 Troina (En), Italy.

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http://dx.doi.org/10.1684/ejd.2017.3186DOI Listing
February 2018

An unusual presentation of Becker Nevus.

Eur J Dermatol 2010 Jul-Aug;20(4):522-3. Epub 2010 Apr 20.

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http://dx.doi.org/10.1684/ejd.2010.0971DOI Listing
September 2010

12q12 deletion: a new patient contributing to genotype-phenotype correlation.

Am J Med Genet A 2008 May;146A(10):1354-7

Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32280DOI Listing
May 2008

Is there a relationship between zinc and the peculiar comorbidities of Down syndrome?

Downs Syndr Res Pract 2002 Mar;8(1):25-8

Unità Operativa Autonoma di Pediatria, Oasi Institute (IRCCS), Troina, Italy.

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http://dx.doi.org/10.3104/reports.126DOI Listing
March 2002