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Items: 13

1.

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.

Yupanqui-Lozno H, Bastarrachea RA, Yupanqui-Velazco ME, Alvarez-Jaramillo M, Medina-Méndez E, Giraldo-Peña AP, Arias-Serrano A, Torres-Forero C, Garcia-Ordoñez AM, Mastronardi CA, Restrepo CM, Rodriguez-Ayala E, Nava-Gonzalez EJ, Arcos-Burgos M, Kent JW Jr, Cole SA, Licinio J, Celis-Regalado LG.

Genes (Basel). 2019 May 7;10(5). pii: E342. doi: 10.3390/genes10050342.

2.

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.

Miranda-Fernández MC, Ramírez-Oyaga S, Restrepo CM, Huertas-Quiñones VM, Barrera-Castañeda M, Quero R, Hernández-Toro CJ, Tamar Silva C, Laissue P, Cabrera R.

Mol Syndromol. 2018 May;9(3):164-169. doi: 10.1159/000488820. Epub 2018 Apr 28.

3.

Identification of clinically relevant phenotypes in patients with Ebstein anomaly.

Cabrera R, Miranda-Fernández MC, Huertas-Quiñones VM, Carreño M, Pineda I, Restrepo CM, Silva CT, Quero R, Cano JD, Manrique DC, Camacho C, Tabares S, García A, Sandoval N, Moreno Medina KJ, Dennis Verano RJ.

Clin Cardiol. 2018 Mar;41(3):343-348. doi: 10.1002/clc.22870. Epub 2018 Mar 22.

4.

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

Silva CT, Zorkoltseva IV, Niemeijer MN, van den Berg ME, Amin N, Demirkan A, van Leeuwen E, Iglesias AI, Piñeros-Hernández LB, Restrepo CM, Kors JA, Kirichenko AV, Willemsen R, Oostra BA, Stricker BH, Uitterlinden AG, Axenovich TI, van Duijn CM, Isaacs A.

BMC Med Genomics. 2018 Mar 5;11(1):22. doi: 10.1186/s12920-018-0339-9.

5.

Use of AFLP for the study of eukaryotic pathogens affecting humans.

Restrepo CM, Llanes A, Lleonart R.

Infect Genet Evol. 2018 Sep;63:360-369. doi: 10.1016/j.meegid.2017.09.017. Epub 2017 Sep 19. Review.

PMID:
28935612
6.

Improving the evaluation of milestones for students completing a clinical genetics elective.

Laissue P, Restrepo CM, Ortiz AM.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.62. Epub 2017 May 11. No abstract available.

PMID:
28492531
7.

Genome-wide discovery and development of polymorphic microsatellites from Leishmania panamensis parasites circulating in central Panama.

Restrepo CM, Llanes A, De La Guardia C, Lleonart R.

Parasit Vectors. 2015 Oct 12;8:527. doi: 10.1186/s13071-015-1153-2.

8.

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.

Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b. No abstract available.

PMID:
26220135
9.

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.

Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Erratum in: Nat Genet. 2015 Aug;47(8):962.

PMID:
26005867
10.

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

Fonseca DJ, Ortega-Recalde O, Esteban-Perez C, Moreno-Ortiz H, Patiño LC, Bermúdez OM, Ortiz AM, Restrepo CM, Lucena E, Laissue P.

Reprod Biomed Online. 2014 Nov;29(5):627-33. doi: 10.1016/j.rbmo.2014.07.018. Epub 2014 Aug 12.

PMID:
25246117
11.

A pseudopterane diterpene isolated from the octocoral Pseudopterogorgia acerosa inhibits the inflammatory response mediated by TLR-ligands and TNF-alpha in macrophages.

González Y, Doens D, Santamaría R, Ramos M, Restrepo CM, Barros de Arruda L, Lleonart R, Gutiérrez M, Fernández PL.

PLoS One. 2013 Dec 16;8(12):e84107. doi: 10.1371/journal.pone.0084107. eCollection 2013.

12.

AFLP polymorphisms allow high resolution genetic analysis of American Tegumentary Leishmaniasis agents circulating in Panama and other members of the Leishmania genus.

Restrepo CM, De La Guardia C, Sousa OE, Calzada JE, Fernández PL, Lleonart R.

PLoS One. 2013 Sep 9;8(9):e73177. doi: 10.1371/journal.pone.0073177. eCollection 2013.

13.

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

Fernandez-L A, Sanz-Rodriguez F, Zarrabeitia R, Perez-Molino A, Morales C, Restrepo CM, Ramirez JR, Coto E, Lenato GM, Bernabeu C, Botella LM.

Hum Mutat. 2006 Mar;27(3):295.

PMID:
16470589

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