J Benitez

Summary

Country: Spain

Publications

  1. ncbi request reprint [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
  2. ncbi request reprint Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online
    M J Trujillo
    Genetics Department Fundación Diaz Madrid
    Hum Mutat 12:218. 1998
  3. ncbi request reprint [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
  4. ncbi request reprint Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations
    A Osorio
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Cancer Lett 121:115-8. 1997
  5. ncbi request reprint Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families
    A Osorio
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Clin Genet 54:142-7. 1998
  6. ncbi request reprint Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families
    A Osorio
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Cancer Lett 123:153-8. 1998
  7. ncbi request reprint A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spot
    J Benitez
    Departamento Genética, Fundacion Jimenez Diaz, Madrid, Spain
    Cancer Res 57:4217-20. 1997
  8. ncbi request reprint [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
  9. ncbi request reprint [Genetic bases in Huntington disease]
    J Benitez
    Departamento de Genetica, Fundacion Jimenez Diaz, Madrid
    Neurologia 14:172-9. 1999
  10. doi request reprint [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

Collaborators

  • M Robledo
  • R Sanz
  • C Alonso
  • C Ayuso
  • M Baiget
  • O Diez
  • A Osorio
  • J A Avilés
  • A Cebrian
  • J Albertos
  • G Ribas
  • P Lazaro
  • M Ibarrola-Villava
  • L P Fernandez
  • D Mayo
  • M J Trujillo
  • J M San Roman
  • P Ruiz Barnes
  • A Yusta
  • P Garcia-Ruiz
  • B Martinez-Delgado
  • J M Vazquez
  • B Martinez
  • M Beneyto
  • J M Millan
  • F Lobo
  • C Najera
  • M Rodriguez De Alba
  • B Garcia-Sandoval
  • A Barabash
  • J Andrade

Detail Information

Publications10

  1. ncbi request reprint [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...
  2. ncbi request reprint Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online
    M 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...
  3. ncbi request reprint [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...
  4. ncbi request reprint Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations
    A 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...
  5. ncbi request reprint Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families
    A 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...
  6. ncbi request reprint Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families
    A 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...
  7. ncbi request reprint A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spot
    J 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...
  8. ncbi request reprint [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...
  9. ncbi request reprint [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...
  10. doi request reprint [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...