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129 results

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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: hernandez garcia a. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
ATP release after partial hepatectomy regulates liver regeneration in the rat.
Gonzales E, Julien B, Serrière-Lanneau V, Nicou A, Doignon I, Lagoudakis L, Garcin I, Azoulay D, Duclos-Vallée JC, Castaing D, Samuel D, Hernandez-Garcia A, Awad SS, Combettes L, Thevananther S, Tordjmann T. Gonzales E, et al. J Hepatol. 2010 Jan;52(1):54-62. doi: 10.1016/j.jhep.2009.10.005. Epub 2009 Oct 24. J Hepatol. 2010. PMID: 19914731 Free PMC article.
[Advances and perspectives in molecular medicine].
Said-Fernández S, Martínez-Rodríguez HG, Said-Fernández SL, Salinas-Carmona MC, Barrera-Saldaña HA, Santillán AA, Hernández-García A, Aguilar-Córdoba E, Rojas-Martínez A, González-Salazar F. Said-Fernández S, et al. Gac Med Mex. 2000 Sep-Oct;136(5):455-75. Gac Med Mex. 2000. PMID: 11080930 Spanish. No abstract available.
[Genetic therapy of cancer].
Rojas-Martínez A, Martínez-Dávila IA, Hernández-García A, Aguilar-Córdova E, Barrera-Saldaña HA. Rojas-Martínez A, et al. Rev Invest Clin. 2002 Jan-Feb;54(1):57-67. Rev Invest Clin. 2002. PMID: 11995408 Review. Spanish.
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA. Hernández-García A, et al. Am J Med Genet A. 2012 Jul;158A(7):1785-7. doi: 10.1002/ajmg.a.35391. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639458 No abstract available.
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA. Wat MJ, et al. Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723016 Free PMC article.
FBN1 contributing to familial congenital diaphragmatic hernia.
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. Beck TF, et al. Am J Med Genet A. 2015 Apr;167A(4):831-6. doi: 10.1002/ajmg.a.36960. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25736269 Free PMC article.
129 results