Anna Ravella

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

Conxi Lázaro, Anna Ravella, Antonia Gaona et al. · New England Journal of Medicine · 1994 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

Carles Garcia-Linares, Juana Fernández‐Rodríguez, Ernest Terribas et al. · Human Mutation · 2010 · 83 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

Eduard Serra, Elisabet Ars, Anna Ravella et al. · Human Genetics · 2001 · 72 citations

Medicine, Genetics, Molecular Genetics +17

Novel alleles, hemizygosity and deletions at an <i>Alu</i>-repeat within the neurofibromatosis type 1 (<i>NF1</i>) gene

Conxi Lázaro, Antonia Gaona, Anna Ravella et al. · Human Molecular Genetics · 1993 · 45 citations

Life Sciences, Genetics, Molecular Genetics +12

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

Conxi Lázaro, Antonia Gaona, Michael Lynch et al. · PubMed · 1995 · 44 citations

Life Sciences, Genetics, Molecular Genetics +8