List of works - Pinella Failla

12q12 deletion: A new patient contributing to genotype–phenotype correlation

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

scientific article published on 15 July 2020

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

scientific article published on 17 February 2008

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

scientific article published in February 2018

An unusual presentation of Becker Nevus

scientific article published on 20 April 2010

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

scientific article published on 27 August 2009

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

Growth hormone subnormality in Down syndrome

scientific article published on July 15, 1992

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

scientific article published on 01 December 2005

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

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

article

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

scientific article published on 22 October 2015

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

scientific article published on 9 November 2016

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

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

scientific article published on 16 May 2018

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

List of works by Pinella Failla