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Academic Journal

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

  • Authors : López G; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia.; Bernal LM

Subjects: DNA Mutational Analysis* ; Mutation*; Cholesterol, LDL/Cholesterol, LDL/Cholesterol, LDL/*blood

  • Source: Atherosclerosis [Atherosclerosis] 2018 Oct; Vol. 277, pp. 434-439.Publisher: Elsevier Country of Publication: Ireland NLM ID: 0242543 Publication Model: Print Cited Medium: Internet ISSN: 1879-1484 (Electronic)

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Academic Journal

Cost-effectiveness of the CFTR gene-sequencing test for asymptomatic carriers in the Colombian population

  • Authors : Andrade E; Instituto de Investigaciones Clínicas, Universidad Nacional de Colombia, Bogotá, D.C., Colombia. .; Díaz J

Subjects: Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*economics ; Genetic Carrier Screening/Genetic Carrier Screening/Genetic Carrier Screening/*economics

  • Source: Biomedica : revista del Instituto Nacional de Salud [Biomedica] 2020 Jun 15; Vol. 40 (2), pp. 283-295. Date of Electronic Publication: 2020 Jun 15.Publisher: Instituto Nacional de Salud Country of Publication: Colombia NLM ID: 8205605 Publication Model: Electronic Cited

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Academic Journal

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

  • Authors : Ojeda D; Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.; Lakhal B

Subjects: DNA Mutational Analysis* ; Mutation*; Cyclin-Dependent Kinase Inhibitor p27/Cyclin-Dependent Kinase Inhibitor p27/Cyclin-Dependent Kinase Inhibitor p27/*genetics

  • Source: Fertility and sterility [Fertil Steril] 2011 Jun 30; Vol. 95 (8), pp. 2658-60.e1. Date of Electronic Publication: 2011 May 14.Publisher: Elsevier for the American Society for Reproductive Medicine Country of Publication: United States NLM ID: 0372772 Publication Model:

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Academic Journal

Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.

  • Authors : Lattig MC; Instituto de Genética Humana- Programa de Estudios Genéticos en Enfermedades Visuales y Auditivas, Universidad Javeriana, Bogotá, Colombia.; Gelvez N

Subjects: Chromosome Aberrations* ; Chromosome Deletion* ; DNA Mutational Analysis*

  • Source: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2008; Vol. 19 (4), pp. 403-12.Publisher: Edition Medecine Et Hygiene Country of Publication: Switzerland NLM ID: 9015261 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Comparison of metabolomic reconfiguration between Columbia and Landsberg ecotypes subjected to the combination of high salinity and increased irradiance.

Subjects: METABOLOMICS; POLYAMINES; PLANT adaptationCOLOMBIA

  • Source: BMC Plant Biology; 8/25/2023, Vol. 23 Issue 1, p1-16, 16p

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Academic Journal

Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population.

Subjects: GTP Phosphohydrolases/GTP Phosphohydrolases/GTP Phosphohydrolases/*genetics ; Melanoma/Melanoma/Melanoma/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: BioMed research international [Biomed Res Int] 2020 Jul 22; Vol. 2020, pp. 2046947. Date of Electronic Publication: 2020 Jul 22 (Print Publication: 2020).Publisher: Hindawi Pub. Co Country of Publication: United States NLM ID: 101600173 Publication Model: eCollection Cited Medium: Internet ISSN:

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Academic Journal

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.

  • Authors : Arango-Franco CA; Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia UdeA, Calle 70 No. 52-21, Medellín, Colombia.; Escuela de Microbiología, Universidad de Antioquia UdeA, Calle 70 No. 52-21, Medellín, Colombia.

Subjects: Ascomycota*/Ascomycota*/Ascomycota*/genetics ; Ascomycota*/Ascomycota*/Ascomycota*/immunology ; Genetic Predisposition to Disease*

  • Source: Journal of clinical immunology [J Clin Immunol] 2018 Oct; Vol. 38 (7), pp. 794-803. Date of Electronic Publication: 2018 Sep 28.Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.

  • Authors : Cock-Rada AM; Instituto de Cancerologia Las Americas, Medellin, Colombia. .; Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia. .

Subjects: Genetic Predisposition to Disease*; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hereditary Breast and Ovarian Cancer Syndrome/Hereditary Breast and Ovarian Cancer Syndrome/Hereditary Breast and Ovarian Cancer Syndrome/*genetics

  • Source: Familial cancer [Fam Cancer] 2018 Jan; Vol. 17 (1), pp. 23-30.Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292

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Academic Journal

Phenotypic and genotypic analysis of clarithromycin-resistant Helicobacter pylori from Bogotá D.C., Colombia.

  • Authors : Trespalacios AA; Infectious Diseases Group, Microbiology Department, Science Faculty, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia. ; Otero W

Subjects: Genotype* ; Microbial Sensitivity Tests* ; Phenotype*

  • Source: Journal of microbiology (Seoul, Korea) [J Microbiol] 2013 Aug; Vol. 51 (4), pp. 448-52. Date of Electronic Publication: 2013 Aug 30.Publisher: Microbiological Society Of Korea Country of Publication: Korea (South) NLM ID: 9703165 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Analysis of Helicobacter pylori cagA promoter elements required for salt-induced upregulation of CagA expression.

  • Authors : Loh JT; Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Friedman DB

Subjects: Gene Expression Regulation, Bacterial* ; Promoter Regions, Genetic*; Antigens, Bacterial/Antigens, Bacterial/Antigens, Bacterial/*genetics

  • Source: Infection and immunity [Infect Immun] 2012 Sep; Vol. 80 (9), pp. 3094-106. Date of Electronic Publication: 2012 Jun 18.Publisher: American Society For Microbiology Country of Publication: United States NLM ID: 0246127 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  32 results for ""DNA mutational analysis""