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Title
Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
Authors
Keywords
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Journal
Genes
Volume 12, Issue 7, Pages 1075
Publisher
MDPI AG
Online
2021-07-15
DOI
10.3390/genes12071075
References
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- (2020) Francesco Cucco et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2020) Lianne C. Krab et al. HUMAN GENETICS
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- (2020) Barbara Parma et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Persistent DNA Damage and Senescence in the Placenta Impacts Developmental Outcomes of Embryos
- (2020) Vijay Pratap Singh et al. DEVELOPMENTAL CELL
- Chromatinopathies: A focus on Cornelia de Lange syndrome
- (2019) Laura Avagliano et al. CLINICAL GENETICS
- Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
- (2019) Patrizia Sarogni et al. JOURNAL OF MEDICAL GENETICS
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- Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo
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- (2017) Laura Avagliano et al. Orphanet Journal of Rare Diseases
- A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome
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- Expanding the clinical spectrum of the ‘HDAC8-phenotype’ - implications for molecular diagnostics, counseling and risk prediction
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- Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
- (2015) I. Parenti et al. CLINICAL GENETICS
- De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- (2015) María Concepción Gil-Rodríguez et al. HUMAN MUTATION
- CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies
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- Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome
- (2015) Linda Mannini et al. Scientific Reports
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- (2014) Zhonghua Liu et al. ACS Chemical Neuroscience
- Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results
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- Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
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- High rate of mosaicism in individuals with Cornelia de Lange syndrome
- (2013) Sylvia A Huisman et al. JOURNAL OF MEDICAL GENETICS
- Immunologic Features of Cornelia de Lange Syndrome
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- (2013) A Pistocchi et al. Cell Death & Disease
- RAD21 Mutations Cause a Human Cohesinopathy
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- Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
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