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Publications by Cesare Danesino

Genetic Determinants of Risk in Pulmonary Arterial Hypertension: International Genome-Wide Association Studies and Meta-Analysis

Lancet Respiratory Medicine,The

Respiratory Medicine

English

The Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism Modifies the Clinical Outcome in Patients With Pompe Disease

Genetics in Medicine

English

Ataluren-Driven Restoration of Shwachman-Bodian-Diamond Syndrome Protein Function in Shwachman-Diamond Syndrome Bone Marrow Cells

American Journal of Hematology

English

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion inACVRL1Suggests the Causing Mechanism

Molecular Syndromology

English

Psychomotor Development in Cri Du Chat Syndrome: Comparison in Two Italian Cohorts With Different Rehabilitation Methods

The Scientific World Journal

Molecular Biology

Environmental Science

English

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

European Journal of Human Genetics

English

Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa

European Journal of Human Genetics

English

Constitutional Trisomy 8 as First Mutation in Multistep Carcinogenesis: Clinical, Cytogenetic, and Molecular Data on Three Cases

Genes Chromosomes and Cancer

Cancer Research

English

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