Albuquerque D - Search Results

1

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.

Rodríguez-López R, Gimeno-Ferrer F, Montesinos E, Ferrer-Bolufer I, Luján CG, Albuquerque D, Cataluña CM, Ballesteros V, Pérez-Gramunt MA. Rodríguez-López R, et al. Among authors: albuquerque d. Genes (Basel). 2021 Jul 31;12(8):1197. doi: 10.3390/genes12081197. Genes (Basel). 2021. PMID: 34440371 Free PMC article.

2

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

Gimeno-Ferrer F, Albuquerque D, Guzmán Luján C, Marcaida Benito G, Torreira Banzas C, Repáraz-Andrade A, Ballesteros Cogollos V, Aleu Pérez-Gramunt M, Galán Gómez E, Quintela I, Rodríguez-López R. Gimeno-Ferrer F, et al. Among authors: albuquerque d. J Hum Genet. 2019 Mar;64(3):221-231. doi: 10.1038/s10038-018-0545-5. Epub 2018 Dec 5. J Hum Genet. 2019. PMID: 30518945

3

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

Gimeno-Ferrer F, Albuquerque D, García Banacloy A, Guzmán Luján C, Vidal Garcia C, Marcaida Benito G, Sánchez Juan C, Bruna Esteban M, Rodríguez-López R. Gimeno-Ferrer F, et al. Among authors: albuquerque d. Gene. 2019 Jul 1;704:74-79. doi: 10.1016/j.gene.2019.04.018. Epub 2019 Apr 11. Gene. 2019. PMID: 30981838

4

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

Albuquerque D, Nóbrega C, Rodríguez-López R, Manco L. Albuquerque D, et al. J Hum Genet. 2014 Jun;59(6):307-13. doi: 10.1038/jhg.2014.23. Epub 2014 Mar 27. J Hum Genet. 2014. PMID: 24670271

5

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

Albuquerque D, Manco L, González LM, Gervasini G, Benito GM, González JR, Rodríguez-López R. Albuquerque D, et al. J Gene Med. 2017 May;19(5). doi: 10.1002/jgm.2956. J Gene Med. 2017. PMID: 28387446

6

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

Gamero-Villarroel C, González LM, Rodríguez-López R, Albuquerque D, Carrillo JA, García-Herráiz A, Flores I, Gervasini G. Gamero-Villarroel C, et al. Among authors: albuquerque d. Brain Behav. 2017 Jul 27;7(9):e00784. doi: 10.1002/brb3.784. eCollection 2017 Sep. Brain Behav. 2017. PMID: 28948079 Free PMC article.

7

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

Gamero-Villarroel C, Rodriguez-Lopez R, Jimenez M, Carrillo JA, Garcia-Herraiz A, Albuquerque D, Flores I, Gervasini G. Gamero-Villarroel C, et al. Among authors: albuquerque d. Psychiatr Genet. 2015 Feb;25(1):35-8. doi: 10.1097/YPG.0000000000000065. Psychiatr Genet. 2015. PMID: 25419636

8

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

Albuquerque D, Stice E, Rodríguez-López R, Manco L, Nóbrega C. Albuquerque D, et al. Mol Genet Genomics. 2015 Aug;290(4):1191-221. doi: 10.1007/s00438-015-1015-9. Epub 2015 Mar 8. Mol Genet Genomics. 2015. PMID: 25749980 Free article. Review.

9

Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population.

Albuquerque D, Estévez MN, Víbora PB, Giralt PS, Balsera AM, Cortés PG, López MJ, Luego LM, Gervasini G, Hernández SB, Arroyo-Díez J, Vacas MA, Nóbrega C, Manco L, Rodríguez-López R. Albuquerque D, et al. Ann Hum Genet. 2014 May;78(3):195-207. doi: 10.1111/ahg.12058. Epub 2014 Mar 11. Ann Hum Genet. 2014. PMID: 24611737

10

Assessment of obesity and abdominal obesity among Portuguese children.

Albuquerque D, Nóbrega C, Samouda H, Manco L. Albuquerque D, et al. Acta Med Port. 2012 May-Jun;25(3):169-73. Epub 2012 Jul 23. Acta Med Port. 2012. PMID: 23069237 Free article.

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