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Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X. Trujillano D, et al. Among authors: escaramis g. Eur J Hum Genet. 2014 Apr;22(4):528-34. doi: 10.1038/ejhg.2013.175. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942198 Free PMC article.
Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders.
Mercader JM, Saus E, Agüera Z, Bayés M, Boni C, Carreras A, Cellini E, de Cid R, Dierssen M, Escaramís G, Fernández-Aranda F, Forcano L, Gallego X, González JR, Gorwood P, Hebebrand J, Hinney A, Nacmias B, Puig A, Ribasés M, Ricca V, Romo L, Sorbi S, Versini A, Gratacòs M, Estivill X. Mercader JM, et al. Among authors: escaramis g. Hum Mol Genet. 2008 May 1;17(9):1234-44. doi: 10.1093/hmg/ddn013. Epub 2008 Jan 18. Hum Mol Genet. 2008. PMID: 18203754 Clinical Trial.
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.
de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramís G, Ballana E, Martín-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I, Eichler EE, Lázaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X. de Cid R, et al. Among authors: escaramis g. Nat Genet. 2009 Feb;41(2):211-5. doi: 10.1038/ng.313. Epub 2009 Jan 25. Nat Genet. 2009. PMID: 19169253 Free PMC article.
Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease.
Gratacòs M, Escaramís G, Bustamante M, Saus E, Agüera Z, Bayés M, Cellini E, de Cid R, Fernández-Aranda F, Forcano L, González JR, Gorwood P, Hebebrand J, Hinney A, Mercader JM, Nacmias B, Ramoz N, Ribasés M, Ricca V, Romo L, Sorbi S, Versini A, Estivill X. Gratacòs M, et al. Among authors: escaramis g. J Psychiatr Res. 2010 Oct;44(13):834-40. doi: 10.1016/j.jpsychires.2010.01.009. Epub 2010 Mar 9. J Psychiatr Res. 2010. PMID: 20219210
136 results