A5042620719- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- RNA modifications and cancer
- Ocular Disorders and Treatments
- Craniofacial Disorders and Treatments
- Neurogenetic and Muscular Disorders Research
- Prenatal Screening and Diagnostics
- Molecular Biology Techniques and Applications
- Retinal Development and Disorders
- Facial Nerve Paralysis Treatment and Research
- Genetic Neurodegenerative Diseases
- Connective tissue disorders research
- Chromatin Remodeling and Cancer
- Autoimmune Neurological Disorders and Treatments
- History of Medicine Studies
- Cancer-related molecular mechanisms research
- Biomedical Research and Pathophysiology
- Peptidase Inhibition and Analysis
- Growth Hormone and Insulin-like Growth Factors
- Vascular Malformations Diagnosis and Treatment
- Neurological diseases and metabolism
- Congenital Heart Disease Studies
- Temporomandibular Joint Disorders
Azienda Sanitaria Unità Locale di Reggio Emilia
2021-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2020-2025
Ospedale Santa Maria
2024
University of Florence
2018-2022
Azienda Ospedaliero-Universitaria Careggi
2022
Ghent University Hospital
2022
Meyer Children's Hospital
2019-2022
Children's Hospital of Philadelphia
2022
Fondazione Stella Maris
2020-2021
National Institute of Health
2020
The authors declare that they have no competing interests. data support the findings of this study are available on request from corresponding author. not publicly due to privacy or ethical restrictions. Data S1. S2. Please note: publisher is responsible for content functionality any supporting information supplied by authors. Any queries (other than missing content) should be directed author article.
Pathogenic variants in RASA1 are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by broad phenotypic variability, even within families. In CM-AVM multifocal capillary and arteriovenous malformations mainly localized the central nervous system, spine skin. Although syndrome has been widely described literature, only 21 cases prenatal onset of features have reported...
Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated the same missense variant p.(Ser37Pro) in NAA10 gene have been described. After advent of whole exome sequencing, many variants reported as causative syndromic or non-syndromic intellectual disability both and females. The lies Xq28 region encodes catalytic subunit major N-terminal acetyltransferase complex NatA, which acetylates almost half human proteome. Here, we present a young female...
Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant condition caused by heterozygous loss of function variants in the KMT2A (MLL) gene, encoding lysine N-methyltransferase that mediates histone methylation pattern specific for epigenetic transcriptional activation. WDSTS characterized distinctive facial phenotype, hypertrichosis, short stature, developmental delay, intellectual disability, congenital malformations, and skeletal anomalies. Recently, few patients have been reported...
Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthalmos (NO) or posterior microphthalmos (PM). This study describes detailed clinical molecular findings a series of five patients affected by PM from four unrelated families.Materials Methods: All underwent complete ophthalmological genetic evaluation. For proper deep phenotyping multimodal instrumental approach was used all cases: B-scan ultrasound, spectral domain optical coherence tomography...
Abstract Background Mutations in lysyl-tRNA synthetase ( KARS1 ), an enzyme that charges tRNA with the amino acid lysine both cytoplasm and mitochondria, have been associated thus far autosomal recessive Charcot–Marie–Tooth type CMTRIB, hearing loss DFNB89, mitochondrial encephalohepatopathy (MEH) featuring neurodevelopmental disorders microcephaly, white matter changes, cardiac hepatic failure less than 30 patients. Case presentation We report clinical, biochemical molecular findings of a...
Cranio-lenticulo-sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family (Boyadjiev et al., Human Genetics, 2003, 113, 1-9 and Boyadjiev Nature 2006, 38, 1192-1197) showed recessive inheritance of the condition with biallelic SEC23A missense variant in affected individuals. In contrast, another child sporadic CLSD had monoallelic inherited from reportedly unaffected father Clinical 2011, 80, 169-176), raising...
DM1 is an autosomal dominant multisystemic disease caused by unstable CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK gene. The complex variant expanded alleles containing CAG, CCG, CTC and/or GGC interruptions repetition sequences have been reported 3-8% patients. To date, very few information available about frequency and clinical consequences pre-mutated allele. In this study, we describe a three-generation Italian family showing segregation interrupted allele within...
Abstract Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused bi‐allelic variants in one genes involved Notch signaling pathway that tunes “segmentation clock” somitogenesis: DLL3 , HES7 LFNG MESP2 RIPPLY2 TBX6 . To date, seven individuals with have been reported literature. In this study we describe two newborns fetus SCD, who were found trio‐based exome sequencing (trio‐ES) to carry homozygous...
Background Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or delay adaptation to darkness, as well low visual acuity, myopia, nystagmus, and strabismus. Color fundus appearance tend be normal. To date, several CACNA1F gene variants have been linked CSNB phenotype but only few reports focused on the optic nerve this disease.Materials Methods Twelve patients underwent standard...
Michelangelo’s marble sculpture of David is one the most admired works art in world. It iconic symbol Florentine Renaissance, and a representation idealized human form its perfection proportion. The statue was examined 2004 by two anatomists who observed apparent absence single muscle. Our re-examination statue, from our perspective as clinical geneticists, shows unexpected hitherto unpublished details variations disproportions within overall context exceptional harmony beauty. This...
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)