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Publications by Susi Scappaticci

Analysis of ENG and ACVRL1 Genes in 137 HHT Italian Families Identifies 76 Different Mutations (24 Novel). Comparison With Other European Studies

Journal of Human Genetics

English

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Does the Genotype of HHT Patients With Mutations of the ENG and ACVRL1 Gene Correlate to Different Expression Levels of the Angiogenic Factor VEGF?

International Journal of Molecular Medicine

English

Analysis of KERA in Four Families With Cornea Plana Identifies Two Novel Mutations

Acta Ophthalmologica

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Novel Mutations in BMPR2, ACVRL1 and KCNA5 Genes and Hemodynamic Parameters in Patients With Pulmonary Arterial Hypertension

Multidisciplinary

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Prevalence of Blindness and Low Vision in an Italian Population: A Comparison With Other European Studies

Sensory Systems

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Hereditary Hemorrhagic Telangiectasia: Evidence for Regional Founder Effects of ACVRL1 Mutations in French and Italian Patients

European Journal of Human Genetics

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Whole-Exome Sequencing Identifies SGCD and ACVRL1 Mutations Associated With Total Anomalous Pulmonary Venous Return (TAPVR) in Chinese Population

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Meta-Analysis of Drosophila Circadian Microarray Studies Identifies a Novel Set of Rhythmically Expressed Genes

PLoS Computational Biology

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Molecular Biology

Computational Theory

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A Case-Control Collapsing Analysis Identifies Epilepsy Genes Implicated in Trio Sequencing Studies Focused on De Novo Mutations

Molecular Biology

Cancer Research

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Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

Pediatric Rheumatology

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