Clínic Barcelona. Hospital Universitari

Montserrat Milà Recasens

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Hospital Clínic – Biomedical Diagnostic Center

  • Molecular diagnosis of spinocerebellar ataxias, Friedreich ataxia, dentato rubro pallido luisian, Huntington Disease, lipofuscinosis, neuronal ceroid.
  • Molecular diagnosis of achondroplasia and hypochondroplasia, uniparental disomy
  • Molecular diagnosis: Intelectual disabilities, FRAXE, Fragile X syndrome, Norrie Syndrome, Silver-Rusell Syndrome, Beckwit-Biedemam Syndrome
  • Molecular study of Colon Cancer: Lynch Syndrome (MLH1, MSH2, MSH6) and familial adenomatous polyposis.
  • Linkage studies
  • Familial intelectual disabilities
  • Rare disease of genetic origen
  • miRNAs
  • Hereditary disease
  • Intelectual disabilities of genetic origen, FXTAS
  • Technologies applied to molecular biology

Other charges

  • Head of research group Genetics (110) area 5 IDIBAPS

Recent articles

Academic Qualifications

  • Advanced research AQU (2008)
  • PhD biological Sciences (1992)
  • Degree in biological sciences (1976)

Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · · www.hospitalclinic.org