Nancy Gelvez
Pontifical Xavierian University
26 Papers
67 Citations
Nancy Gelvez is an academic researcher from Pontifical Xavierian University. The author has contributed to research in topics: Population & Medicine. The author has an hindex of 9, co-authored 26 publications.
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Papers
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
A. Eliot Shearer,Robert W. Eppsteiner,Kevin T. Booth,Sean S. Ephraim,Jose Gurrola,Allen C. Simpson,E. Ann Black-Ziegelbein,Swati Joshi,Harini Ravi,A. Giuffre,Scott Happe,Michael S. Hildebrand,Hela Azaiez,Yıldırım Ahmet Bayazıt,Mehmet Emin Erdal,Jose A. Lopez-Escamez,Irene Gazquez,Marta L. Tamayo,Nancy Gelvez,Greizy López Leal,Chaim Jalas,Josef Ekstein,Tao Yang,Shin-ichi Usami,Kimia Kahrizi,Niloofar Bazazzadegan,Hossein Najmabadi,Todd E. Scheetz,Terry A. Braun,Thomas L. Casavant,Emily M LeProust,Richard J.H. Smith,Richard J.H. Smith +32 more
TL;DR: Evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity, and proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL.
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Possible Migration Routes into South America Deduced from Mitochondrial DNA Studies in Colombian Amerindian Populations
TL;DR: The presence of the four founder A-D Amerindian lineages are investigated, with varied distributions in the different populations, as well as the presence of other haplotypes in frequencies ranging from 3% to 26%.
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Mitochondrial DNA studies show asymmetrical Amerindian admixture in Afro-Colombian and Mestizo populations
TL;DR: Results are evidence of different patterns of past ethnic admixture among Africans, Amerindians, and Spaniards in the geographic region now encompassing Colombia, which is also reflected in much of the region's cultural diversity.
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Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
TL;DR: This study clearly corroborates the hypothesis that the smaller del(GJB6-D13S1854) deletion removes (a) putative cis-regulatory element(s) upstream of GJB6 and narrows down the region of location.
Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program.
Marta L. Tamayo,Margarita Olarte,Nancy Gelvez,M. Gómez,Jaime L. Frias,Jaime E. Bernal,Silvia Florez,David Medina +7 more
TL;DR: The pilot study showed that 15.3% of institutionalized deaf children in Bogotá have non-syndromic deafness and among them, the frequency of the S199F mutation was higher than reported in previous studies, whereas the Frequency of the 35delG is similar to Caucasian populations.
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