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Transcriptional regulator PRDM12 is essential for human pain perception.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: restrepo cm. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005867 Free PMC article.
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: restrepo cm. Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b. Nat Genet. 2015. PMID: 26220135 No abstract available.
Genetics and genomic medicine in Colombia.
De Castro M, Restrepo CM. De Castro M, et al. Among authors: restrepo cm. Mol Genet Genomic Med. 2015 Mar;3(2):84-91. doi: 10.1002/mgg3.139. Mol Genet Genomic Med. 2015. PMID: 25802878 Free PMC article. No abstract available.
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
Triana-Fonseca P, Parada-Márquez JF, Silva-Aldana CT, Zambrano-Arenas D, Arias-Gomez LL, Morales-Fonseca N, Medina-Méndez E, Restrepo CM, Silgado-Guzmán DF, Fonseca-Mendoza DJ. Triana-Fonseca P, et al. Among authors: restrepo cm. Appl Clin Genet. 2021 Oct 1;14:399-408. doi: 10.2147/TACG.S317721. eCollection 2021. Appl Clin Genet. 2021. PMID: 34629887 Free PMC article.
CITED2 mutations potentially cause idiopathic premature ovarian failure.
Fonseca DJ, Ojeda D, Lakhal B, Braham R, Eggers S, Turbitt E, White S, Grover S, Warne G, Zacharin M, Nevin Lam A, Landolsi H, Elghezal H, Saâd A, Restrepo CM, Fellous M, Sinclair A, Koopman P, Laissue P. Fonseca DJ, et al. Among authors: restrepo cm. Transl Res. 2012 Nov;160(5):384-8. doi: 10.1016/j.trsl.2012.05.006. Epub 2012 Jun 16. Transl Res. 2012. PMID: 22709740
A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations.
Pereira R, Alves C, Aler M, Amorim A, Arévalo C, Betancor E, Braganholi D, Bravo ML, Brito P, Builes JJ, Burgos G, Carvalho EF, Castillo A, Catanesi CI, Cicarelli RMB, Coufalova P, Dario P, D'Amato ME, Davison S, Ferragut J, Fondevila M, Furfuro S, García O, Gaviria A, Gomes I, González E, Gonzalez-Liñan A, Gross TE, Hernández A, Huang Q, Jiménez S, Jobim LF, López-Parra AM, Marino M, Marques S, Martínez-Cortés G, Masciovecchio V, Parra D, Penacino G, Pinheiro MF, Porto MJ, Posada Y, Restrepo C, Ribeiro T, Rubio L, Sala A, Santurtún A, Solís LS, Souto L, Streitemberger E, Torres A, Vilela-Lamego C, Yunis JJ, Yurrebaso I, Gusmão L. Pereira R, et al. Forensic Sci Int Genet. 2018 Jan;32:18-25. doi: 10.1016/j.fsigen.2017.09.012. Epub 2017 Sep 22. Forensic Sci Int Genet. 2018. PMID: 29024923 Free article.
70 results