Mar�a Martinez-Gimeno

Novelc-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation

Miguel Carballo, Ignasi Roig, Maria Antonia Pol et al. · American Journal of Medical Genetics Part A · 2005 · 73 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>De novo</i> germline mutation in the serine–threonine kinase <i>STK11/LKB1</i> gene associated with Peutz–Jeghers syndrome

Imma Hernán, Ignasi Roig, Betty K. Martin et al. · Clinical Genetics · 2004 · 41 citations

Life Sciences, Genetics, Molecular Genetics +10

[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

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families

Mar�a Jos� Trujillo, Mar�a Martinez-Gimeno, A. Crespo Gimnez et al. · Human Mutation · 2000 · 20 citations

Medicine, Genetics, Molecular Genetics +11

Three novel mutations (P215L, T289P, and 3811-2 A?G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

Mar�a Martinez-Gimeno, Mar�a Jos� Trujillo, Isabel Lorda et al. · Human Mutation · 2000 · 15 citations

Medicine, Genetics, Molecular Genetics +14