A5082482773- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Congenital limb and hand anomalies
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Connective tissue disorders research
- Congenital Diaphragmatic Hernia Studies
- Metabolism and Genetic Disorders
- Urological Disorders and Treatments
- Craniofacial Disorders and Treatments
- Congenital Ear and Nasal Anomalies
- Renal and related cancers
- Renal cell carcinoma treatment
- Tracheal and airway disorders
- Protein Tyrosine Phosphatases
- Tuberous Sclerosis Complex Research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Ocular Disorders and Treatments
- Genomics and Chromatin Dynamics
- Kruppel-like factors research
University of Palermo
2016-2025
Ospedale Vincenzo Cervello
2012-2025
Brookdale University Hospital and Medical Center
2025
Ospedale Buccheri la Ferla Fatebenefratelli
2024
Hospital Universitario La Paz
2021
Instituto de Salud Carlos III
2021
Centre for Biomedical Network Research on Rare Diseases
2021
Italian Society of Physiotherapy
2004-2019
University of Siena
2011
Advisory Board Company (United States)
2011
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures distinct, highly sensitive, and specific biomarkers that have recently been applied clinical diagnosis syndromes. contained within the broader disorder-specific changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment comparison overlapping changes related 65 with...
The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with distribution of affected tissues due to block Wnt signal transmission from cells carrying detrimental PORCN mutation on an active X-chromosome. Molecular characterization 24 unrelated patients different ethnic backgrounds revealed 23 mutations the gene in Xp11.23. Three were microdeletions eliminating and encompassing neighboring genes such as EBP, associated Conradi-Hünermann-Happle...
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, cognitive disabilities. De novo germline mutations the proto-oncogene HRAS cause syndrome. Most affect glycine residues position 12 or 13, more than 80% of patients share...
<h3>Background</h3> Rubinstein–Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation caused mutations in the genes encoding for transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP p300. Previous studies have shown that neuronal histone acetylation reduced mouse models of RSTS. <h3>Methods</h3> The authors identified different at <i>CREBBP</i>...
<h3>Background</h3> The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the <i>KANSL1</i> gene. To date, about 60 subjects with and 4 mutation have been reported. Prevalence of compared mutations, genotype–phenotype correlations phenotypic variability yet to fully clarified. <h3>Methods</h3> We report 27 novel 5 mutation<i>,</i> 3 whom were not previously <h3>Results</h3> prevalence was 83% 17%, respectively. All patients had similar...
VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal Radial dysplasia. It is even possible to find out Cardiovascular, Renal Limb anomalies the VACTERL adopted, also, embodying Vascular, single umbilical artery, external genitalia anomalies.Data on patients with esophageal atresia (EA) or without tracheoesophageal (TEF) admitted Neonatal...
The aim of this retrospective study was to define clinical and molecular characteristics a large sample neurofibromatosis type 1 (NF1) patients, as well evaluate mutational spectrum genotype-phenotype correlation. NF1 is relatively common neurogenetic disorder (1:2500–1:3000 individuals). It caused by mutations the gene on chromosome 17ql1.2, with autosomal dominant pattern inheritance wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas...
<title>Abstract</title> Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas in multiple organs and significant neurological involvement. TSC caused pathogenic variants <italic>TSC1</italic> or <italic>TSC2</italic> genes, leading to hyperactivation of the mTOR pathway consequent dysregulation cell growth. These tumor suppressor genes encode hamartin tuberin, proteins critical for regulating proliferation, neuronal excitability...
We present the results of a study performed on Sicilian population children with Down syndrome (DS) 0-14 years age, observed between 1977 and 1988. Data from report concern 382 subjects nonmosaic 21 trisomy, including 239 males (62.6%) 143 females (37.4%). excluded all DS in same period associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, thalassemia). Overall, 1,464 measurements were length or height, weight, head circumference....
ABSTRACT PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth associated with germ‐line mutations in the suppressor gene located on 10q23.3. It is widely accepted that two these disorders, Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome, allelic conditions. Because not identifiable every case PHTS phenotype, inability to detect mutation within does invalidate clinical diagnosis or patients who meet diagnostic criteria for disorders. an increased risk...
Twins, compared to singletons, have an increased risk of perinatal mortality and morbidity, due mainly a higher prevalence preterm birth low birthweight. Intrauterine growth restriction (IUGR) is also common can affect one or both fetuses. In some cases, however, twin much smaller than the other (growth discordance). Usually, high birthweight discordance associated with morbidity. The aim this study describe epidemiological features population twins at birth, particular reference...
Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association microdeletions include developmental delay, craniofacial dysmorphism congenital anomalies. The duplication has macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, intellectual disability autism spectrum disorder. Our study describes seven patients, who were referred to us for delay/intellectual disability, dysmorphic and, some...
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, acuity decay late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among over 30 genes found to date related ADRP, RP1 pathogenic variants have been identified 5–10% cases. In a cohort RCD patients from Palermo province on island Sicily, we prevalent nonsense variant RP1, which was associated with ADRP....
Abstract Context Silver–Russell Syndrome (SRS) is a growth retardation disorder characterized by pre- and postnatal failure, relative macrocephaly at birth, prominent forehead, body asymmetry, feeding difficulties. The main molecular mechanisms are imprinting alterations multiple loci, though small number of pathogenic variants have been reported in the SRS genes IGF2-PLAG1-HMGA2 CDKN1C. However, around 40% clinically suspected cases do not achieve diagnosis, highlighting necessity to...