Alessandra Baumer

Research interests

Publications

• Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

  European Heart Journal · 2011 · https://doi.org/10.1093/eurheartj/ehr076

• APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

  Nature · 2010 · https://doi.org/10.1038/nature08875

• Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

  Journal of Medical Genetics · 2008 · https://doi.org/10.1136/jmg.2008.061820

• Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

  Journal of Medical Genetics · 2007 · https://doi.org/10.1136/jmg.2007.054007

• A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1853

• Novel Nox inhibitor VAS2870 attenuates PDGF-dependent smooth muscle cell chemotaxis, but not proliferation☆

  Cardiovascular Research · 2006 · https://doi.org/10.1016/j.cardiores.2006.01.022

• Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes

  Human Genetics · 2001 · https://doi.org/10.1007/s004390100585

• High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions

  Human Molecular Genetics · 1998 · https://doi.org/10.1093/hmg/7.5.887

• Multiple mitochondrial DNA deletions in an elderly human individual

  FEBS Letters · 1992 · https://doi.org/10.1016/0014-5793(92)80321-7

• Mitochondrial DNA mutation and the ageing process: bioenergy and pharmacological intervention

  Mutation Research/DNAging · 1992 · https://doi.org/10.1016/0921-8734(92)90023-i

• Mitochondrial gene mutation: the ageing process and degenerative diseases.

  PubMed · 1990

Current projects

No projects listed.