[HTML][HTML] Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

…, A Metrena, J O'Connor, C Oliver, J Pie… - Nature Reviews …, 2018 - nature.com
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized
by intellectual disability, well-defined facial features, upper limb anomalies and atypical …

[HTML][HTML] Long-term safety and efficacy of factor IX gene therapy in hemophilia B

…, N Patel, D Raj, A Riddell, J Pie… - … England Journal of …, 2014 - Mass Medical Soc
Background In patients with severe hemophilia B, gene therapy that is mediated by a novel
self-complementary adeno-associated virus serotype 8 (AAV8) vector has been shown to …

[HTML][HTML] Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

…, D Yaeger, A Rampuria, S Korolev, J Pie… - The American Journal of …, 2007 - cell.com
Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de
Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, …

Molecular genetics of HMG-CoA lyase deficiency

J Pié, E Lopez-Vinas, B Puisac, S Menao, A Pié… - Molecular Genetics and …, 2007 - Elsevier
3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic
disorder that affects ketogenesis and l-leucine catabolism, which generally appears during …

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …

…, H Dubbs, DA Dyment, J Eckhold… - Human molecular …, 2014 - academic.oup.com
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies,
growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological …

Prevention of nitric oxide-mediated 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine-induced Parkinson's disease in mice by tea phenolic epigallocatechin 3-gallate

JY Choi, CS Park, DJ Kim, MH Cho, BK Jin, JE Pie… - Neurotoxicology, 2002 - Elsevier
In animal models of Parkinson’s disease (PD), the toxicity of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine
(MPTP) is mediated by oxidative stress, especially by nitric oxide (NO). …

Oxidative toxicity in models of neurodegeneration: responses to melatonin

RJ Reiter, JJ Garcia, J Pie - Restorative neurology and …, 1998 - content.iospress.com
In this brief review the antioxidative actions of melatonin are summarized and they are
discussed relative to several models of oxidative neurotoxicity. Melatonin is a ubiquitously acting …

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

…, Á Pié, J Pozojevic, E Queralt, J Richer… - Human …, 2015 - Wiley Online Library
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure,
intellectual disability, limb malformations, and multiple organ involvement. Mutations in five …

[HTML][HTML] Adeno-associated mediated gene transfer for hemophilia B: 8 year follow up and impact of removing “empty viral particles” on safety and efficacy of gene …

…, P Chowdary, J McIntosh, A Riddell, J Pie… - Blood, 2018 - Elsevier
Background: We have previously shown that a single intravenous administration of a self-complementary
adeno-associated virus (scAAV) vector containing a codon-optimised factor IX …

Phenotypes and genotypes in individuals with SMC1A variants

…, SE Noon, C Oliver, I Parenti, J Pie… - American journal of …, 2017 - Wiley Online Library
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to
cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing …