Research Topics
Species | J BenitezSummaryCountry: Spain Publications
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Detail Information
Publications
[Clinical and genetic implications of dynamic mutations in neuropediatric practice]J Benitez
Departamento de Genetica, Fundacion Jimenez Diaz, Madrid, Espana
Rev Neurol 28:60-3. 1999..Why an increased number of repetitions of a trinucleotide found in or out of a gene is associated with a particular disorder is one of the questions raised by these mutations and which is starting to be discovered...- Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. OnlineM J Trujillo
Genetics Department Fundación Diaz Madrid
Hum Mutat 12:218. 1998..Therefore, they are not implicated in the development of the Retinitis Pigmentosa disease... - [Spinocerebellar ataxia type VII (AEC 7). Report of a Spanish family with the disease]D Mayo
Departamento de Genetica, Fundacion Jimenez Diaz, Clínica de la Concepción, Madrid, Espana
Rev Neurol 28:964-6. 1999..The dominant autosomic ataxias present very varied clinical findings. However, genetic studies are being done to establish the genotype-phenotype relationship of the different autosomal dominant ataxias... - Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutationsA Osorio
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
Cancer Lett 121:115-8. 1997..3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations... - Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish familiesA Osorio
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
Clin Genet 54:142-7. 1998..All the families carrying the 936delAAAC mutation harboured part of a common haplotype shared by other reported carriers, suggesting a possible founder effect for this mutation... - Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer familiesA Osorio
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
Cancer Lett 123:153-8. 1998..Our results suggest that these six mutations are not specially recurrent in the Spanish population and that differences in the geographical origin of the families can influence the type and proportion of mutations identified... - A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spotJ Benitez
Departamento Genética, Fundacion Jimenez Diaz, Madrid, Spain
Cancer Res 57:4217-20. 1997..Most important, the critical region of AI coincides with a female hot spot of recombination, suggesting a possible correlation between the two regions... - [Identification of a de novo mutation in a patient without von Hippel-Lindau syndrome: clinical and diagnostic implications]A Cebrian
Departamento de Genetica, Fundacion Jimenez Diaz, Madrid
Neurologia 14:362-5. 1999..The genetic study allows, in cases without familial history, to determine if they have the hereditary form of the disease and to study the siblings periodically until the beginning of the disease... - [Genetic bases in Huntington disease]J Benitez
Departamento de Genetica, Fundacion Jimenez Diaz, Madrid
Neurologia 14:172-9. 1999..Nonetheless, the demand is lower than expected and this may be due to psychologic, social and legal problems, together with the lack of adequate infrastructure for completely guaranteeing the performance of these studies... 
[Phenotypic and histologic characteristics of cutaneous melanoma in patients with melanocortin-1 receptor polymorphisms]J A Avilés
Servicio de Dermatologia, Hospital General Universitario Gregorio Maranon, Madrid, Espana
Actas Dermosifiliogr 103:44-50. 2012..The melanocortin-1 receptor (MC1R) is an important risk factor for melanoma due to its role in the production of melanin in response to sun exposure...