Alessandra Ferrarini
A5069884306- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- RNA Research and Splicing
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Genomics and Chromatin Dynamics
- Urticaria and Related Conditions
- Drug-Induced Adverse Reactions
- Eosinophilic Disorders and Syndromes
- Nuclear Structure and Function
- Metabolism and Genetic Disorders
- Inflammatory Myopathies and Dermatomyositis
- Dermatological and COVID-19 studies
- Sympathectomy and Hyperhidrosis Treatments
- Craniofacial Disorders and Treatments
- dental development and anomalies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- ATP Synthase and ATPases Research
- Injury Epidemiology and Prevention
- Cardiac Arrest and Resuscitation
- Genetic Associations and Epidemiology
- Vasculitis and related conditions
Ospedale San Giovanni Bellinzona
2006-2021
Istituto Pediatrico della Svizzera Italiana
2020-2021
Ospedale regionale di Lugano
2019-2020
Università della Svizzera italiana
2018-2020
University of Milan
2003-2020
University Hospital of Lausanne
2010-2020
University of Lausanne
2009-2020
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2020
Ospedale Regionale di Bellinzona e Valli
2015
Ente Ospedaliero Cantonale
2013
Abstract We report on the clinical and molecular characterization of eight patients, one male seven females, with diagnosis Cornelia de Lange syndrome (CdLS), who were found to carry distinct mutations SMC1A gene. Five are novel, two involving amino acid residues previously described as altered in a different way. The other three have been reported each single case. Comparison pairs individuals same mutation indicates only partial overlap their phenotypes. following novel missense mutations,...
Microduplication of the 22q11.2 chromosomal region has been recognized since 1999 and associated with a highly variable phenotype. Neurodevelopmental impairment behavioural problems are very common in patients duplication. Autism spectrum disorders (ASDs) have previously reported only two duplication striking dysmorphic features. We report here on 4‐year‐old male healthy consanguineous parents presenting ASD according to DSMIV, revised, criteria as primary manifestation. The child walked at...
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by increasing number of reported cases although genotype-phenotype relationship for remains overall complex. As ID a wide phenotypic diversity described Rett syndrome (RTT). Several patients harboring present clinical symptoms similar to RTT and some meet most criteria classic RTT. With aim establishing correlation, we collected data 16 point (15...
ABSTRACT Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only small number of genes have been associated FND phenotypes until now, the first gene being EFNB1 , related to craniofrontonasal syndrome (CFNS) craniosynostosis in addition, more recently aristaless‐like homeobox ALX3 ALX4 ALX1 which distinct named FND1, FND2, FND3 respectively. We here report on female patient presenting severe features...
Objective To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological developmental delay phenotypes. Methods Here we describe a series of de novo missense 10 unrelated individuals with overlapping features. Exome sequencing or genome was performed on all individuals, cohort assembled through GeneMatcher. Results encodes an evolutionary ancient widely expressed transmembrane protein no known association, although two paralogues are involved...
Background: Finkelstein-Seidlmayer disease (FSD) is a benign cutaneous small-vessel leukocytoclastic vasculitis syndrome, which normally affects children between 2-60 months in male-to-female ratio of 2:1. Skin lesions may appear as papules, erythematous macules, or urticaria. They are symmetric, sharp-edged and favouring the face, ears extremities. Frequently they targetoid, annular, medallion-like, cockade. Fever extracutaneous involvement rare spontaneous resolution occurs 1-3 weeks. Case...
We delineate a KMT2E gene-related neurodevelopmental disorder based on 38 individuals in 36 families. This includes 31 distinct heterozygous variants the gene (28 ascertained from Matchmaker Exchange and 3 previously reported), 4 with chromosome 7q22.2-22.23 microdeletions encompassing (1 reported). Almost all occurred de novo, most were truncating. Most affected protein-truncating presented mild intellectual disability. One-quarter of met criteria for autism. Additional common features...
Aims: The vast majority of causes autism spectrum disorders (ASDs) are still unexplained. We collected data from 23 children presenting ASD, and we study the importance analysis.
Introduction: Autism represents the paradigm of complex genetic disorders. Although intensive investigations actually exist, we do not have a precise model autism. Several Mendelism affections and different chromosomal anomalies are associated with We present first patient microduplication 22q11
Bronz, Gabriela; Leoni-Foglia, Corinnab; Lava, Sebastiano G.c; Simonetti, Giacomo D.b; Ferrarini, Alessandrad Author Information