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No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW. Murdoch JD, et al. Among authors: gonzalez l. PLoS Genet. 2015 Jan 26;11(1):e1004852. doi: 10.1371/journal.pgen.1004852. eCollection 2015 Jan. PLoS Genet. 2015. PMID: 25621974 Free PMC article.
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF 3rd, Teran NA, Dea J, Mandell JD, Hus Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ. Dong S, et al. Among authors: gonzalez le. Cell Rep. 2014 Oct 9;9(1):16-23. doi: 10.1016/j.celrep.2014.08.068. Epub 2014 Oct 2. Cell Rep. 2014. PMID: 25284784 Free PMC article.
The contribution of de novo coding mutations to autism spectrum disorder.
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. Iossifov I, et al. Among authors: gonzalez le. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29. Nature. 2014. PMID: 25363768 Free PMC article.
Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene.
Rodríguez A, Gonzalez L, Ko A, Alvarez M, Miao Z, Bhagat Y, Nikkola E, Cruz-Bautista I, Arellano-Campos O, Muñoz-Hernández LL, Ordóñez-Sánchez ML, Rodriguez-Guillen R, Mohlke KL, Laakso M, Tusie-Luna T, Aguilar-Salinas CA, Pajukanta P. Rodríguez A, et al. Among authors: gonzalez l. Arterioscler Thromb Vasc Biol. 2016 Jul;36(7):1350-5. doi: 10.1161/ATVBAHA.116.307182. Epub 2016 May 19. Arterioscler Thromb Vasc Biol. 2016. PMID: 27199446 Free PMC article.
Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts.
Kals M, Wilson L, Levey DF, Parodi L, Steyerberg EW, Richardson S, He F, Sun X, Jain S, Palotie A, Ripatti S, Rosand J, Manley GT, Maas AIR, Stein MB, Menon DK; Genetic Associations In Neurotrauma (GAIN) Consortium (with contribution from the CENTER-TBI and TRACK-TBI studies). Kals M, et al. EClinicalMedicine. 2024 Dec 5;78:102956. doi: 10.1016/j.eclinm.2024.102956. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39720422 Free PMC article.
Adult height in girls with idiopathic central precocious puberty treated with triptorelin.
Corripio R, Soriano-Guillén L, Herrero FJ, Castro-Feijoó L, Escribano A, Sol-Ventura P, Espino R, Vela A, Labarta JI; Spanish PUBERE Group; Argente J. Corripio R, et al. Front Endocrinol (Lausanne). 2024 Dec 5;15:1498726. doi: 10.3389/fendo.2024.1498726. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39703867 Free PMC article.
An ecological study on the correlation between sanitary vulnerability and air pollution with COVID-19 pandemic burden: What lessons can we learn?
Bullo M, Lakkis G, Enet A, Bonfiglio JI, Di Pasquale R, Represa S, Gonzalez LM, Gonzalez-Aleman G, Lamas MC, Salvia A, Langsam M, Olego T, Perez-Lloret S. Bullo M, et al. Among authors: gonzalez lm. Public Health. 2024 Dec 16;238:206-213. doi: 10.1016/j.puhe.2024.12.002. Online ahead of print. Public Health. 2024. PMID: 39689648
3,282 results