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A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M. Arcos-Burgos M, et al. Among authors: domene s. Mol Psychiatry. 2010 Nov;15(11):1053-66. doi: 10.1038/mp.2010.6. Epub 2010 Feb 16. Mol Psychiatry. 2010. PMID: 20157310 Free article.
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. Lacbawan F, et al. Among authors: domene s. J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2. J Med Genet. 2009. PMID: 19346217 Free PMC article.
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
Gutiérrez M, Scaglia P, Keselman A, Martucci L, Karabatas L, Domené S, Martin A, Pennisi P, Blanco M, Sanguineti N, Bezrodnik L, Di Giovanni D, Caldirola MS, Azcoiti ME, Gaillard MI, Denson LA, Zhang K, Husami A, Yayah Jones NH, Hwa V, Revale S, Vázquez M, Jasper H, Kumar A, Domené H. Gutiérrez M, et al. Among authors: domene s, domene h. Mol Cell Endocrinol. 2018 Sep 15;473:166-177. doi: 10.1016/j.mce.2018.01.016. Epub 2018 Feb 3. Mol Cell Endocrinol. 2018. PMID: 29378236 Free PMC article.
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Scaglia PA, Keselman AC, Braslavsky D, Martucci LC, Karabatas LM, Domené S, Gutiérrez ML, Ballerini MG, Ropelato MG, Spinola-Castro A, Siviero-Miachon AA, Tartuci JS, Rodríguez Azrak MS, Rey RA, Jasper HG, Bergadá I, Domené HM. Scaglia PA, et al. Among authors: domene hm, domene s. Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14. Clin Endocrinol (Oxf). 2017. PMID: 28445628
Genetic Mutations in the GH/IGF Axis.
Domené S, Domené HM. Domené S, et al. Among authors: domene hm. Pediatr Endocrinol Rev. 2018 Sep;16(Suppl 1):39-62. doi: 10.17458/per.vol16.2018.dd.geneticmutationsghigf. Pediatr Endocrinol Rev. 2018. PMID: 30378782
43 results