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 · 343 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

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 · 259 citations · Full text

Mendelian Disorder, Genetic Disorder, Abcr Gene +10

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

Kaie Jaakson, Jana Zernant, Maigi Külm et al. · Human Mutation · 2003 · 238 citations

<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 · 195 citations · Full text

Bone Disease, Sclerostin, Bone Health +13

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 · 161 citations