A5034730659- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Ubiquitin and proteasome pathways
- Epigenetics and DNA Methylation
- Cellular transport and secretion
- Connective tissue disorders research
- Hereditary Neurological Disorders
- Glycosylation and Glycoproteins Research
- Cleft Lip and Palate Research
- Caveolin-1 and cellular processes
- Chromatin Remodeling and Cancer
- Genomics and Rare Diseases
- Microtubule and mitosis dynamics
- Proteoglycans and glycosaminoglycans research
- RNA regulation and disease
- Advanced biosensing and bioanalysis techniques
- Craniofacial Disorders and Treatments
- Hormonal Regulation and Hypertension
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- DNA Repair Mechanisms
Oasi Maria SS
1998-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2023-2024
I.R.C.C.S. Oasi Maria SS
1992-2016
Istituto di Genetica Molecolare
2005
University of Ferrara
2004
Individuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations, microcephaly, and autistic behavior. The analysis of shortest region overlap (SRO) between deletions in ~ 40 patients has led to identification two critical regions four strongly candidate genes (BCL11A, REL, USP34 XPO1). However, delineation their role occurrence specific traits is hampered by incomplete penetrance.To better delineate hemizygosity selected...
Despite the extensive use of chromosomal microarray technologies in patients with neurodevelopmental disorders has permitted identification an increasing number causative submicroscopic rearrangements throughout genome, constitutional duplications involving chromosome 1q22 have seldom been described those patients.We report on a pedigree seven affected members showing varying degrees behavioural and emotional disturbances including general anxiety disorder, mood disorders, intellectual...
Coffin–Lowry syndrome (CLS; MIM #303600) is characterized by learning difficulties and dysmorphic traits in male patients some female carriers of the X-chromosome–linked gene mutation. The traits, skeletal abnormalities, other clinical findings have been described (1). Mutations RSK2 (also called RPS6KA3 , *300075), mapping to Xp22.2, are found disease (2). encodes a 740-amino acid protein member 90-kDa ribosomal S6 serine/threonine kinase family (3). In humans, RSK includes 4 growth...
Abstract African admixture in Sicily has been long suspected because of the presence sickle gene. Nevertheless, degree cannot be derived from study HbS frequency, since this gene was most likely expanded by selective pressure malaria, for a time endemic to region. We have examined 142 individuals Sicilian town Butera (12% trait) search other markers globin cluster less selected malaria. The Taql polymorphism intervening sequences between two γ genes is informative. found only instances...
This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified novel homozygous missense variant in ERCC4 gene, which was predicted to be pathogenic. However, subsequent peculiar audiometric finding prompted further...