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View article: Prognostic significance of mutation type and chromosome fragility in Fanconi anemia
Prognostic significance of mutation type and chromosome fragility in Fanconi anemia Open
Fanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, and extreme chromosome fragility. To better understand the natural history of FA, identify genetic risk and prognostic factors, and…
View article: Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event
Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event Open
Somatic mosaicism appears as a recurrent phenomenon among patients suffering from Fanconi anemia (FA), but its direct prognostic significance mostly remains an open question. The clinical picture of FA mosaic subjects could indeed vary fro…
View article: A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation Open
Introduction: Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, a phenomenon now acknowledged as a good prognostic factor. Herein, we describe the case of P1, a FA proband car…
View article: Things come in threes: A new complex allele and a novel deletion within the <i>CFTR</i> gene complicate an accurate diagnosis of cystic fibrosis
Things come in threes: A new complex allele and a novel deletion within the <i>CFTR</i> gene complicate an accurate diagnosis of cystic fibrosis Open
Background Despite consolidated guidelines, the clinical diagnosis and prognosis of cystic fibrosis (CF) is still challenging mainly because of the extensive phenotypic heterogeneity and the high number of CFTR variants, including their co…
View article: GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme Open
Not abstract available
View article: Anti-inflammatory properties of a proprietary bromelain extract (Bromeyal™) after <i>in vitro</i> simulated gastrointestinal digestion
Anti-inflammatory properties of a proprietary bromelain extract (Bromeyal™) after <i>in vitro</i> simulated gastrointestinal digestion Open
Introduction Bromelain is a complex mixture of thiol proteases and other non-proteolytic constituents, commercially extracted primarily from the pineapple stem. Evidence from several in vitro and in vivo studies highlights its excellent bi…