List of works - Dora Janeth Fonseca

A Novel Splice-Site Mutation in the <i>ELN</i> Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

scientific article published on 17 December 2020

A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions

scientific article published on 02 March 2020

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

scientific article

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

scientific article published in February 2013

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

scientific article published on 12 August 2014

CITED2 mutations potentially cause idiopathic premature ovarian failure.

scientific article published on 16 June 2012

Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population

scientific article published on 19 July 2019

Evidence of association between SNAP25 gene and attention deficit hyperactivity disorder in a Latin American sample

scientific article published on 23 December 2013

Evidencia de asociación entre el genotipo 10/10 de DAT1 y endofenotipos del trastorno por déficit de atención/hiperactividad

scientific article published on 23 January 2014

Lack of association of polymorphisms in six candidate genes in Colombian ADHD patients

scientific article published on October 2015

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

scientific article published on 16 May 2015

Novel ring structure in the gp41 trimer of human immunodeficiency virus type 1 that modulates sensitivity and resistance to broadly neutralizing antibodies.

scientific article published on 27 May 2009

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

scientific article published on 2 December 2011

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

scientific article

Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype

scientific article published on 01 March 2021

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology

scientific article

[Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease]

scientific article published on 01 December 2011

List of works by Dora Janeth Fonseca

A Novel Splice-Site Mutation in the <i>ELN</i> Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

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

CITED2 mutations potentially cause idiopathic premature ovarian failure.

Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population

Evidence of association between SNAP25 gene and attention deficit hyperactivity disorder in a Latin American sample

Evidencia de asociación entre el genotipo 10/10 de DAT1 y endofenotipos del trastorno por déficit de atención/hiperactividad

Lack of association of polymorphisms in six candidate genes in Colombian ADHD patients

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

Novel ring structure in the gp41 trimer of human immunodeficiency virus type 1 that modulates sensitivity and resistance to broadly neutralizing antibodies.

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

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

Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology

[Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease]