A5010079583- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Congenital Anomalies and Fetal Surgery
- Skin and Cellular Biology Research
- Congenital Ear and Nasal Anomalies
- Neurofibromatosis and Schwannoma Cases
- Cell Adhesion Molecules Research
- Glycosylation and Glycoproteins Research
- Ocular Disorders and Treatments
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Infant Nutrition and Health
- Congenital limb and hand anomalies
- RNA regulation and disease
- Chromosomal and Genetic Variations
- RNA Research and Splicing
- Connective tissue disorders research
- Wnt/β-catenin signaling in development and cancer
- Inflammatory Myopathies and Dermatomyositis
- Skin Diseases and Diabetes
- Hippo pathway signaling and YAP/TAZ
Ca' Foncello Hospital
2021-2025
AULSS 2 Marca Trevigiana
2002-2024
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2020
Local Government Association
2020
Boart Longyear (United States)
2019
Hôpital Necker-Enfants Malades
2017
Sorbonne Université
2017
University of Ferrara
2005
Ospedale di Santa Maria dei Battuti
2000
University of Padua
1983-1994
Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation characterized by peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed affected syndrome. Sanger sequencing was...
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases shared across disorders converge on common functional pathways. Using the Ion Torrent platform, we developed a low-cost next-generation gene panel has been transferred into clinical practice, replacing single disease-gene analyses for early diagnosis of individuals ID/ASD....
Abstract Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted architecture clinical presentations. This work delves into the interplay between variants phenotypic manifestations in neurodevelopmental presenting dataset curated for Critical Assessment...
Abstract This report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 18 in one family, 3 22 the other. Although identification of two abnormalities might be due to chance, observation long arm deletion patient frequent coexistence DiGeorge anomaly raise possibility contiguous gene syndrome at least some cases.
Abstract We describe an epidemiological and clinical study of Clinical Anopthalmia in a population consecutive live stillborns enrolled hospital based registry congenital malformations Northeast Italy during the period from 1981 to 1989; 22 cases were detected among 368,256 births yielding birth prevalence 0.60 per 10,000 (95% CI 0.34–0.84); 20 associated with at least one other major malformation. Malformation syndrome, association, or sequence was diagnosed 13, while non‐recognizable...
Copy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can assessed. Three and first reciprocal duplication cases are described a review literature.
In NANS deficiency, biallelic mutations in the
We describe two families in which three fetuses had a de novo 6q imbalance and abnormal phenotypes. determined the boundaries parental origin of chromosomal alterations by segregation analysis using panel short tandem repeats (STRs) located on 6q. Cases 1 2 (family A) were sibs with involving different regions. Case was female fetus arthrogryposis, who complex rearrangement resulting deleted regions (6q22 6q25.1-q25.2) duplication 6q23-q25.1. This latter reported previously is associated...
<b>Background:</b> The phenotypic variability in Beckwith–Wiedemann syndrome (BWS) reflects the genetic heterogeneity of mechanism which by default leads to deregulation genes located at 11p15.5. Genotype–phenotype correlation studies have demonstrated an association between omphalocoele and CDKN1C/p57 mutations or hypermethylation. Paternal uniparental disomy 11 (pUPD11) has been described only mosaic condition with both biparental cell lines, no pointed out. <b>Methods:</b> Two cases are...
GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants. aim this study was to investigate clinical audiological features a cohort subjects with GJB2/GJB6 gene mutation profiles from tertiary referral center in Northeastern Italy. We considered 57 patients presenting congenital, SNHL, mainly coming Veneto region (Italy). samples...
Percentile charts of neonatal length, weight, head circumference, and weight/length squared have been constructed using data based on 688 consecutive newborn infants with Down Syndrome 6,890 normal new born (control group) registered in the congenital malformation registers North-East Italy Emilia-Romagna Region. All percentiles growth variables are lower syndrome than control infants, except for weight/length2 percentiles, suggesting that is prenatally reduced; overweight begins after birth.
Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation found in patients carrying 3-4 Mb deletions (∼70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal pattern with biparental inheritance characterizes the remaining ∼20-25% AS (Stalker et al.,1998; Tsai al.,1998). Mutations Ubiquitin protein ligase 3A gene (UBE3A) have been latter group, but only preliminary figures...
Abstract First described in 1971, partial trisomy 6p is uncommon and generally secondary to a familial reciprocal translocation. The proximal breakpoint of the reported cases varies from p11 p25. We here report on patient with moderate mental retardation, craniofacial pigmentary anomalies, proteinuria, hyperglycemia who was found have mosaic karyotype 46,X,add(Y)(q12)/45,X. Fluorescence situ hybridization (FISH) enabled us identify that additional material Yqh derived define rearrangement as...
Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located 5'UTR gene, and methylation cytosines CpG islands upstream repeats. Here, we describe unrelated families with one FXS child another sibling presenting mild intellectual disability behavioural features evocative FXS. Genetic characterization undiagnosed revealed mosaicism both size levels different tissues analysed. This report shows...
A boy presenting with an incomplete form of the acrocallosal syndrome is described. The shows clinical variability and it stressed that none components constant facial dysmorphism not always characteristic.
Studies of T-cell subsets (CD3+, CD4+, CD8+, CD8+ CD57+ cells), lymphocyte response to concanavalin A (Con A), phytohaemoagglutinin (PHA) and the alterations white cell membranes shown by scanning electronic microscope (SEM) in 51 patients who underwent cardiac operation were performed. Out these unselected patients, for 16, duration CPB was = 110 min (group while other 35 B) it prolonged (> minutes). Although variations subset observed between groups B slighly significant (p<0.05 bofore on...
Abstract Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, epilepsy. Understanding the genetic causes of NDDs is challenging due to their complex nature. In this study, a targeted gene panel sequencing has been used investigate in cohort 415 pediatric patients. We identified 60 pathogenic 49 potentially variants 102 individuals that accounted for 25% NDD...
Theoretical recurrence risks for cleft lip with or without palate (CL(P)) were calculated from heritability estimates derived a population of 203 newborns CL(P) in total 220,927 consecutive births north-east Italy. Birth prevalence and the frequency relatives probands estimated after exclusion cases resulting known cause pathogenesis. The method allowed estimation theoretical risk any family by considering number affected unaffected first, second, third degree relatives. lower value compared...