Publications by authors named "Nancy Gelvez"

13Publications

Detection of hearing loss in newborns: Definition of a screening strategy in Bogotá, Colombia.

Int J Pediatr Otorhinolaryngol 2019 Jul 26;122:76-81. Epub 2019 Mar 26.

Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Carrera 7 # 40-62, Colombia.

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http://dx.doi.org/10.1016/j.ijporl.2019.03.016DOI Listing
July 2019

Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.

Atherosclerosis 2018 10;277:434-439

Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia; Fundación Derecho a la Desventaja, FUNDALDE, Bogotá, Colombia. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.08.052DOI Listing
October 2018

[Phenotypic and molecular characterization of a Colombian family with phenylketonuria].

Biomedica 2016 Sep 1;36(3):390-396. Epub 2016 Sep 1.

Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia.

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http://dx.doi.org/10.7705/biomedica.v36i3.2639DOI Listing
September 2016

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Am J Hum Genet 2014 Oct 25;95(4):445-53. Epub 2014 Sep 25.

Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185121PMC
October 2014

Transient evoked oto-acoustic emission screening in newborns in Bogotá, Colombia: a retrospective study.

Int J Pediatr Otorhinolaryngol 2014 Oct 12;78(10):1752-5. Epub 2014 Aug 12.

Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.08.004DOI Listing
October 2014

The importance of fundus eye testing in rubella-induced deafness.

Int J Pediatr Otorhinolaryngol 2013 Sep 1;77(9):1536-40. Epub 2013 Aug 1.

Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia.

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http://dx.doi.org/10.1016/j.ijporl.2013.06.028DOI Listing
September 2013

[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].

Biomedica 2011 Mar;31(1):82-90

Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, D.C, Colombia.

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http://dx.doi.org/10.1590/S0120-41572011000100010DOI Listing
March 2011

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).

PLoS One 2011 29;6(6):e21665. Epub 2011 Jun 29.

Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0021665PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126855PMC
December 2011

Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.

Am J Med Genet A 2008 Apr;146A(8):1026-31

Instituto de Genética Humana, Facultad de Medicina, Universidad Javeriana, Bogotá, Colombia.

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http://dx.doi.org/10.1002/ajmg.a.32189DOI Listing
April 2008

Mitochondrial DNA studies show asymmetrical Amerindian admixture in Afro-Colombian and Mestizo populations.

Hum Biol 2003 Feb;75(1):13-30

School of Engineering, University of Warwick, Coventry, UK.

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http://dx.doi.org/10.1353/hub.2003.0026DOI Listing
February 2003

Possible migration routes into South America deduced from mitochondrial DNA studies in Colombian Amerindian populations.

Hum Biol 2002 Apr;74(2):211-33

Instituto de Genética, Universidad Nacional de Colombia, Ciudad Universitaria, Bogotá.

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http://dx.doi.org/10.1353/hub.2002.0022DOI Listing
April 2002