All Stories

  1. Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization

    Article • Genes, July 2021, MDPI AG

    Mr David Albuquerque

  2. Variability in cannabinoid receptor genes is associated with psychiatric comorbidities in anorexia nervosa

    Article • Eating and Weight Disorders - Studies on Anorexia Bulimia and Obesity, February 2021, Springer Science + Business Media

    Mr David Albuquerque

  3. Physical activity and the association between the FTO rs9939609 polymorphism and obesity in Portuguese children aged 3 to 11 years

    Article • American Journal of Human Biology, August 2019, Wiley

    Mr David Albuquerque

  4. Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals

    Article • Gene, April 2019, Elsevier

    Mr David Albuquerque

  5. The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability

    Article • Journal of Human Genetics, December 2018, Springer Science + Business Media

    Mr David Albuquerque

  6. Association study of six single nucleotide polymorphisms with obesity in two independent Iberian samples

    Article • Meta Gene, September 2018, Elsevier

    Mr David Albuquerque

  7. Influence of TFAP2B and KCTD15 genetic variability on personality dimensions in anorexia and bulimia nervosa

    Article • Brain and Behavior, July 2017, Wiley

    Mr David Albuquerque

  8. Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population

    Article • The Journal of Gene Medicine, May 2017, Wiley

    Mr David Albuquerque

  9. OUP accepted manuscript

    Article • British Medical Bulletin, January 2017, Oxford University Press (OUP)

    Mr David Albuquerque

  10. Genetics of Human Obesity

    Article • January 2016, Springer Science + Business Media

    Mr David Albuquerque

  11. Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado–Joseph disease

    Article • Brain, October 2015, Oxford University Press (OUP)

    Mr David Albuquerque

  12. Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective

    Article • Molecular Genetics and Genomics, March 2015, Springer Science + Business Media

    Mr David Albuquerque

  13. Melanocortin-4 receptor gene variants are not associated with binge-eating behavior in nonobese patients with eating disorders

    Article • Psychiatric Genetics, February 2015, Wolters Kluwer Health

    Mr David Albuquerque

  14. RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease

    Article • PLOS One, August 2014, PLOS

    Mr David Albuquerque, Professor Nicole Déglon

  15. Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children

    Article • Journal of Human Genetics, March 2014, Springer Science + Business Media

    Mr David Albuquerque

  16. Novel Variants in theMC4RandLEPRGenes among Severely Obese Children from the Iberian Population

    Article • Annals of Human Genetics, March 2014, Wiley

    Mr David Albuquerque

  17. Genetic Contribution: Common Forms of Obesity

    Article • January 2014, Springer Science + Business Media

    Mr David Albuquerque

  18. Epigenetics of Human Obesity: A Link Between Genetics and Nutrition

    Article • January 2014, Springer Science + Business Media

    Mr David Albuquerque

  19. Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado–Joseph disease

    Article • Brain, June 2013, Oxford University Press (OUP)

    Mr David Albuquerque, Professor Nicole Déglon

  20. Silencing Mutant Ataxin-3 Rescues Motor Deficits and Neuropathology in Machado-Joseph Disease Transgenic Mice

    Article • PLOS One, January 2013, PLOS

    Mr David Albuquerque, Professor Nicole Déglon

  21. Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption

    Article • Annals of Human Biology, January 2013, Taylor & Francis

    Mr David Albuquerque

  22. Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children

    Article • PLOS One, January 2013, PLOS

    Mr David Albuquerque

  23. The lactase persistence -13910C>T polymorphism shows indication of association with abdominal obesity among Portuguese children

    Article • Acta Paediatrica, January 2013, Wiley

    Mr David Albuquerque

  24. Overexpression of Mutant Ataxin-3 in Mouse Cerebellum Induces Ataxia and Cerebellar Neuropathology

    Article • The Cerebellum, December 2012, Springer Science + Business Media

    Mr David Albuquerque, Professor Nicole Déglon

  25. SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples

    Article • Annals of Human Biology, January 2011, Taylor & Francis

    Mr David Albuquerque