5 Result(s)
within
Anna Pierini
Human Genetics
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Article
Open AccessMedication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies
The aetiology of gastroschisis is considered multifactorial. We conducted a systematic review and meta-analysis to assess whether the use of medications during pregnancy, is associated with the risk of gastros...
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Article
Open AccessSurvival of children with rare structural congenital anomalies: a multi-registry cohort study
Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children...
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Article
Open AccessSurvival of patients with rare diseases: a population-based study in Tuscany (Italy)
Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health is...
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Article
Open AccessEpidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)
Systemic Sclerosis (SSc) is a chronic autoimmune disease with a complex pathogenesis that includes vascular injury, abnormal immune activation, and tissue fibrosis. We provided a complete epidemiological chara...
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Article
Open AccessHolt Oram syndrome: a registry-based study in Europe
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EU...
