Lucia Grillo

Troina, 94018, Italy

Last Updated: 09/26/2026

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Found 12 publications

Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.

Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: June 22, 2023

Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion.

Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion.

Journal: Genes
Published: September 28, 2022

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

Journal: Genes
Published: March 11, 2022

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.

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.

Journal: Human genetics
Published: November 19, 2018

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Journal: European journal of human genetics : EJHG
Published: June 21, 2017

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Journal: American journal of human genetics
Published: December 11, 2015

A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome.

A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down Syndrome.

Journal: Cellular and molecular biology (Noisy-le-Grand, France)
Published: September 03, 2015

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

Journal: Molecular cytogenetics
Published: September 22, 2014

Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases.

Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases.

Journal: Seizure
Published: April 02, 2014

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

Journal: American journal of medical genetics. Part A
Published: October 19, 2013

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

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

Journal: Gene
Published: June 17, 2013

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

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

Journal: Molecular cytogenetics
Published: November 12, 2012
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Last Updated: 09/26/2026