Alessandra Maugeri

Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider et al. · The American Journal of Human Genetics · 2000 · 345 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease

Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol et al. · The American Journal of Human Genetics · 1999 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Genotyping microarray (gene chip) for the<i>ABCR</i>(<i>ABCA4</i>) gene

Kaie Jaakson, Jana Zernant, Maigi Külm et al. · Human Mutation · 2003 · 239 citations

Medicine, Genetics, Molecular Genetics +17

<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures

Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha et al. · New England Journal of Medicine · 2013 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Beneficial Outcome of Losartan Therapy Depends on Type of <i>FBN1</i> Mutation in Marfan Syndrome

Romy Franken, Alexander W. den Hartog, Teodora Radonic et al. · Circulation Cardiovascular Genetics · 2015 · 165 citations · Full text

Medicine, Cardiology, Genetics +15