Cargando…

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

BACKGROUND: Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Giardino, Daniela, Vignoli, Aglaia, Ballarati, Lucia, Recalcati, Maria Paola, Russo, Silvia, Camporeale, Nicole, Marchi, Margherita, Finelli, Palma, Accorsi, Patrizia, Giordano, Lucio, La Briola, Francesca, Chiesa, Valentina, Canevini, Maria Paola, Larizza, Lidia
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2010
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967536/ https://www.ncbi.nlm.nih.gov/pubmed/20939888 http://dx.doi.org/10.1186/1471-2350-11-146

Ejemplares similares

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes
por: Peron, Angela, et al.
Publicado: (2020)

Living with Epilepsy in Adolescence in Italy: Psychological and Behavioral Impact
por: Turner, Katherine, et al.
Publicado: (2023)

Epilepsy in adult patients with tuberous sclerosis complex
por: Vignoli, Aglaia, et al.
Publicado: (2021)

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
por: Cirello, Valentina, et al.
Publicado: (2018)

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1
por: Cervi, Francesca, et al.
Publicado: (2020)

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
por: Vignoli, Aglaia, et al.
Publicado: (2015)

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
por: Finelli, Palma, et al.
Publicado: (2012)

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome
por: Catusi, Ilaria, et al.
Publicado: (2020)

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
por: Słowińska, Monika, et al.
Publicado: (2018)

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
por: Castronovo, Chiara, et al.
Publicado: (2013)

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex
por: Peron, Angela, et al.
Publicado: (2018)

Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
por: Perego, Sara, et al.
Publicado: (2022)

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
por: Peron, Angela, et al.
Publicado: (2022)

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
por: Catusi, Ilaria, et al.
Publicado: (2021)

Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome
por: Fabio, Rosa Angela, et al.
Publicado: (2020)

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
por: Cogliati, Francesca, et al.
Publicado: (2019)

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
por: Bestetti, Ilaria, et al.
Publicado: (2018)

Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background
por: Savini, M. N., et al.
Publicado: (2020)

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients
por: Alari, Valentina, et al.
Publicado: (2021)

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome
por: Castronovo, Chiara, et al.
Publicado: (2014)

Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes
por: Vaudano, Anna Elisabetta, et al.
Publicado: (2019)

A familial t(4;8) translocation segregates with epilepsy and migraine with aura
por: Crippa, Milena, et al.
Publicado: (2020)

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
por: Crippa, Milena, et al.
Publicado: (2015)

Update on the Cytogenetics and Molecular Genetics of Chordoma
por: Larizza, Lidia, et al.
Publicado: (2005)

Pharyngolaryngeal spasm‐induced dysphagia in an epileptic patient undergoing vagus nerve stimulation therapy
por: Castellani, Luca, et al.
Publicado: (2020)

Survey of medical genetic services in Italy: year 2011
por: Giardino, Daniela, et al.
Publicado: (2016)

Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
por: Colombo, Elisa Adele, et al.
Publicado: (2023)

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
por: Bentivegna, Angela, et al.
Publicado: (2006)

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
por: Calzari, Luciano, et al.
Publicado: (2020)

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
por: Sironi, Alessandra, et al.
Publicado: (2022)

Rett Syndrome and Other Neurodevelopmental Disorders Share Common Changes in Gut Microbial Community: A Descriptive Review
por: Borghi, Elisa, et al.
Publicado: (2019)

Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study
por: Fetta, Anna, et al.
Publicado: (2021)

Editorial: Iron Metabolism at the Crossroad of Innate Immune Response and Cancer Progression
por: Zacchi, Paola, et al.
Publicado: (2022)

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
por: Recalcati, Maria Paola, et al.
Publicado: (2022)

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
por: Gervasini, Cristina, et al.
Publicado: (2013)

Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons
por: Larizza, Lidia, et al.
Publicado: (2021)

Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes
por: Larizza, Lidia, et al.
Publicado: (2021)

Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment
por: Larizza, Lidia, et al.
Publicado: (2023)

Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis
por: Di Marco, Fabiano, et al.
Publicado: (2016)

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature
por: Privitera, Flavia, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_m9h4st2r7d8uluchdnp1bcmu94