L. Grillo

发表

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

M. Fichera, S. Signorelli, V. Fiore, 2014, Molecular Cytogenetics.

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

A. Coppola, D. Luciano, M. Elia, 2014, Seizure.

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

M. Fichera, C. Romano, R. Borgatti, 2011, PLoS genetics.

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

S. Buono, C. Romano, O. Galesi, 2022, Genes.

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy

M. Elia, C. Amato, M. Carotenuto, 2012, Brain and Development.

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

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2017, European Journal of Human Genetics.

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

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human genetics.

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

S. Buono, A. Alberti, M. Fichera, 2014, American journal of medical genetics. Part A.

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

R. Pettinato, M. Fichera, C. Romano, 2014, Gene.

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

M. Fichera, S. Signorelli, V. Fiore, 2014, Molecular Cytogenetics.

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.

M. Fichera, C. Romano, S. Reitano, 2010, European journal of medical genetics.

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

M. Fichera, C. Romano, P. Failla, 2005, American journal of human genetics.

Mielopatía cordonal posterior por déficit de vitamina B 12 en el contexto de atrofia gástrica Myelopathy cordonal back by deficit of vitamin B12 in context of gastric atrophy

L. Grillo, M. Riccio, C. Rey, 2016 .

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

C. Romano, S. Bianca, M. Piccione, 2022, Genes.

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

M. Fichera, S. Musumeci, P. Curatolo, 2009, European journal of medical genetics.

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

M. Fichera, C. Romano, S. Musumeci, 2013, Molecular Cytogenetics.

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

M. Fichera, C. Romano, S. Musumeci, 2013, Molecular Cytogenetics.

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

P. Bosco, M. C. Morale, C. Romano, 2015, Cellular and molecular biology.

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

M. Fichera, M. Vinci, M. Piccione, 2016, Genes & Genomics.

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

M. Fichera, C. Romano, F. Calì, 2019, Human Genetics.

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

M. Fichera, C. Romano, S. Reitano, 2008, American journal of medical genetics. Part A.

Research Letter 12q12 Deletion: A New Patient Contributing to Genotype-Phenotype Correlation

M. Fichera, C. Romano, S. Reitano, 2008 .

Trastornos de conducta en afasia progresiva primaria. Análisis de 26 casos

L. Grillo, M. Riccio, C. Rey, 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

M. Fichera, C. Romano, F. Calì, 2019, Human Genetics.