A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Por Calado, Joaquim, Gaspar, Augusta, Clemente, Carla, Rueff, José
Publicado em 2005

Down syndrome and microRNAs

Por Brás, Aldina, Rodrigues, António S., Gomes, Bruno, Rueff, José
Publicado no Biomed Rep (2018)

Integration of HIV in the Human Genome: Which Sites Are Preferential? A Genetic and Statistical Assessment

Por Gonçalves, Juliana, Moreira, Elsa, Sequeira, Inês J., Rodrigues, António S., Rueff, José, Brás, Aldina
Publicado no Int J Genomics (2016)

Prevalence of the Janus kinase 2 V617F mutation in Philadelphia-negative myeloproliferative neoplasms in a Portuguese population

Por Azevedo, Ana Paula, Silva, Susana N., Reichert, Alice, Lima, Fernando, Júnior, Esmeraldina, Rueff, José
Publicado no Biomed Rep (2017)

Altered Human CYP3A4 Activity Caused by Antley-Bixler Syndrome-Related Variants of NADPH-Cytochrome P450 Oxidoreductase Measured in a Robust In Vitro System

Por Moutinho, Daniela, Marohnic, Christopher C., Panda, Satya P., Rueff, José, Masters, Bettie Sue, Kranendonk, Michel
Publicado em 2012

Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility

Por Santos, Luís S., Silva, Susana N., Gil, Octávia M., Ferreira, Teresa C., Limbert, Edward, Rueff, José
Publicado no Oncol Lett (2018)

Human Cytochrome P450 Oxidoreductase Deficiency Caused by the Y181D Mutation: Molecular Consequences and Rescue of Defect

Por Marohnic, Christopher C., Panda, Satya P., McCammon, Karen, Rueff, José, Masters, Bettie Sue Siler, Kranendonk, Michel
Publicado em 2010

Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study

Por Conde, João, Silva, Susana N, Azevedo, Ana P, Teixeira, Valdemar, Pina, Julieta Esperança, Rueff, José, Gaspar, Jorge F
Publicado em 2009

DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes p...

Por Azevedo, Ana P., Silva, Susana N., De Lima, João P., Reichert, Alice, Lima, Fernando, Júnior, Esmeraldina, Rueff, José
Publicado no Oncol Lett (2017)

IMPAIRMENT OF HUMAN CYP1A2-MEDIATED XENOBIOTIC METABOLISM BY ANTLEY-BIXLER SYNDROME VARIANTS OF CYTOCHROME P450 OXIDOREDUCTASE()

Por Kranendonk, Michel, Marohnic, Christopher C., Panda, Satya P., Duarte, Maria Paula, Oliveira, José Santos, Masters, Bettie Sue Siler, Rueff, José
Publicado no Arch Biochem Biophys (2008)