A5020504485- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Neurodegenerative Diseases
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Hereditary Neurological Disorders
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Protein Tyrosine Phosphatases
- Chromatin Remodeling and Cancer
- Congenital limb and hand anomalies
- Parkinson's Disease Mechanisms and Treatments
- Cancer Genomics and Diagnostics
- Ubiquitin and proteasome pathways
- Galectins and Cancer Biology
- Neurological disorders and treatments
- Assisted Reproductive Technology and Twin Pregnancy
- Neurofibromatosis and Schwannoma Cases
- Thyroid Cancer Diagnosis and Treatment
- DNA Repair Mechanisms
- Congenital Diaphragmatic Hernia Studies
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2025
Università Cattolica del Sacro Cuore
2008-2025
Agostino Gemelli University Polyclinic
2008-2025
Center for Genomic Science
2017
Neuroscience Institute
2011
Pontifícia Universidade Católica de São Paulo
2006
University of the Sacred Heart
2006
Unione Italiana del Lavoro
2004
Catholic University of America
2004
Fondazione Stella Maris
1997
Most fragile X syndrome patients have expansion of a (CGG)(n)sequence with >200 repeats (full mutation) in the FMR1 gene responsible for this condition. Hypermethylation expanded repeat and promoter is almost always present apparently suppresses transcription, resulting absence protein. We recently showed that transcriptional reactivation full mutations can be achieved by inducing DNA demethylation 5-azadeoxycytidine (5-azadC). The level histone acetylation another important factor...
Fragile X syndrome is the most frequent cause of heritable mental retardation. Most patients have a mutation in 5′ untranslated region FMR1 gene, consisting amplification polymorphic (CGG)n repeat sequence, and cytogenetically express folate-sensitive fragile site FRAXA Xq27.3. harbour an expanded sequence with >200 CGG repeats (full mutation), accompanied by methylation cytosines itself upstream CpG island. This abnormal hypermethylation promoter suppresses gene transcription, resulting...
Background: Central nervous system involvement occurs in most patients with myotonic dystrophy type 1 (DM1): mental retardation characterizes congenital forms, while a mild cognitive impairment has been described adult classic DM1.Neuropathological studies documented neurofibrillary tangles and an aberrant tau-protein expression brain tissues of animal models DM1.Objectives: To characterize the pattern dysfunction occurring DM1 to analyze genotypephenotype correlations DM1. Methods:We...
The most common of the heterogeneous group extra structurally abnormal chromosomes (ESACs) is inv dup(15), whose presence results in tetrasomy 15p and partial 15q. Inv containing Prader-Willi/Angelman syndrome (PWSAS) region, are constantly associated with phenotypic abnormalities mental retardation. We report on four additional patients behavioral pattern, neurologic physical findings further delineate phenotype this neurogenetic syndrome. also provide FISH analyses observed ESACs discuss...
Pregabalin (PRE) acts as a presynaptic inhibitor of the release excessive levels excitatory neurotransmitters by selectively binding to α 2 -δ subunit voltage-gated calcium channels. In this randomised, double-blind comparison trial with naltrexone (NAL), we aimed investigate efficacy PRE on alcohol drinking indices. Craving reduction and improvement psychiatric symptoms were secondary endpoints. Seventy-one alcohol-dependent subjects detoxified subsequently randomised into two groups,...
Mismatch repair genes MSH2 and MLH1 are considered to be the two major that responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of have been identified previously in a substantial fraction individuals who predisposed genetically carcinoma (CRC) other tumors HNPCC spectrum. With aim determining relevance these Italian population, we submitted mutational analysis set 17 families, all which fulfilled “Amsterdam criteria.” A combination...
X-linked mental retardation (XLMR) is a genetically heterogeneous condition, due to mutations in at least 50 genes, involved functioning of the central nervous system and located on X chromosome. Nonspecific XLMR (MRX) characterized essentially by transmitted inheritance. More than 80 extended MRX pedigrees have been reported date, which distinguished exclusively physical position corresponding gene chromosome, established linkage analysis. One such family, MRX21, was described us 1993...
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features. The autosomal dominant forms, known as spinocerebellar (SCAs), linked to trinucleotide (i.e., CAG) repeat disorders, ultra-rare in children. We describe three patients from two unrelated families affected ataxia type 2 (SCA2) and present a literature review of pediatric cases. Methods: patients’...
One third of endometrial carcinomas (ECs) presents with mismatch repair deficiency (MMRd). Of these, 70 % are caused by somatic hypermethylation MLH1 promoter; the remaining cases determined Lynch syndrome or double inactivation MMR genes. Although associated good-intermediate prognosis, heterogeneity in treatment response and survival has been reported among MMRd ECs. We aim to investigate differences pathologic aggressiveness event-free (EFS) three EC subtypes, classified...
Background: Macrocephaly can be a component manifestation of several monogenic conditions, in association with intellectual disability/developmental delay (ID/DD) behaviour abnormalities, including autism spectrum disorders (ASD), and variable additional features. On the other hand, idiopathic ASD present developmental macrocephaly. Methods: We carried out retrospective analysis cohort 78 patients who were tested from February 2017 to December 2024 by high-throughput sequencing panel 27...
Abstract An apparently balanced translocation, t(2;7)(q21.1;q22.1) was detected in a female patient with bilateral split hand and right foot. Split hand/split foot (SHSF) segregated as an autosomal dominant character low penetrance her family. The translocation present 6 of 13 additional relatives investigated, one whom also had on right. This observation provides further confirmation the presence locus for SHSF 7q narrows critical region to band 7q22.1. Defects caused by alterations this...
Linkage analysis of a non-specific form X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire chromosome in three generation Italian family, including four male patients moderate retardation. One obligate carrier woman had mild and another two normal intelligence. The results indicate tight linkage to DNA DXS84 (L754), DXS164 (pERT87-15), DXS278 (CRI-S232). A maximum lod score 2.11 at theta = 0.00 obtained DXS278. region spanned chromosomal bands...
Abstract Mutations of the FGD1 gene are responsible for a significant proportion patients with Aarskog–Scott syndrome (AAS), an X‐linked disorder characterized by short stature, brachydactyly, urogenital abnormalities, and typical dysmorphic facial appearance. Although mental retardation does not occur significantly in AAS, this condition has been described associated various degrees impairment and/or behavioral disorders some patients. In particular, attention deficit hyperactivity (ADHD)...