Miquel Maseras

Mutations in the Pre-mRNA Splicing-Factor Genes<i>PRPF3</i>,<i>PRPF8</i>, and<i>PRPF31</i>in Spanish Families with Autosomal Dominant Retinitis Pigmentosa

Mari ́a Marti ́nez-Gimeno, Mari ́a Jose ́ Gamundi, Imma Hernán et al. · Investigative Ophthalmology & Visual Science · 2003 · 98 citations

Life Sciences, Genetics, Ophthalmology +15

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

María Martinez-Gimeno, Miquel Maseras, Montserrat Baiget et al. · Human Mutation · 2001 · 53 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Transcriptional expression of<i>cis</i>-acting and<i>trans</i>-acting splicing mutations cause autosomal dominant retinitis pigmentosa

María José Gamundi, Imma Hernán, Marta Muntanyola et al. · Human Mutation · 2008 · 39 citations

Life Sciences, Genetics, Molecular Genetics +14

[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].

Elena Millá, Miquel Maseras, Mar�a Martinez-Gimeno et al. · PubMed · 2002 · 23 citations

Medicine, Genetics, Ophthalmology +17

Cellular Expression and siRNA-Mediated Interference of Rhodopsin<i>cis</i>-Acting Splicing Mutants Associated with Autosomal Dominant Retinitis Pigmentosa

Imma Hernán, María José Gamundi, Ester Planas‐Rigol et al. · Investigative Ophthalmology & Visual Science · 2011 · 22 citations

Life Sciences, Genetics, Molecular Biology +17