List of works - Lucia Castiglia

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

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

scientific article published on 17 January 2013

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

scientific article published in May 2006

7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.

scientific article published on 20 December 2017

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

scientific article published on 17 February 2008

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism.

scientific article published in August 2005

An unusual presentation of Becker Nevus

scientific article published on 20 April 2010

Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.

scientific article published in October 2003

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

scientific article published on 18 January 2019

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

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

scientific article

Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.

scientific article published on 14 October 2008

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

article

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

scientific article published on 8 October 2013

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

scientific article published on May 2003

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

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

scientific article published on November 2005

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

scientific article published on 31 December 2007

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

scientific article published on 7 September 2018

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

scientific article published in May 2005

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

scientific article published on 11 June 2020

Three new patients with dup(17)(p11.2p11.2) without autism

scientific article published on 23 January 2008

List of works by Lucia Castiglia