Nicolas G. Trujillo-Pineda

Medellin, ANT, Colombia

Last Updated: 09/26/2026

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Found 16 publications

Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort

Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort

Journal: Journal of clinical research in pediatric endocrinology

Published: April 16, 2026

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

Journal: Genes

Published: March 09, 2022

A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia

A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia

Journal: Andes pediatrica : revista Chilena de pediatria

Published: August 30, 2021

Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.

Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.

Journal: Journal of child neurology

Published: May 27, 2021

Protective association exhibited by a single nucleotide polymorphism of the IFIH1 gene in patients with psoriasis: A case-control study.

Protective association exhibited by a single nucleotide polymorphism of the IFIH1 gene in patients with psoriasis: A case-control study.

Journal: Medwave

Published: February 13, 2021

Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.

Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.

Journal: Journal of medical genetics

Published: April 16, 2020

A non-coding RNASEH1 gene variant associates with type 1 diabetes and interacts with HLA tagSNPs in families from Colombia.

A non-coding RNASEH1 gene variant associates with type 1 diabetes and interacts with HLA tagSNPs in families from Colombia.

Journal: Pediatric diabetes

Published: February 14, 2020

Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia.

Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia.

Journal: World journal of diabetes

Published: July 18, 2019

Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy.

Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy.

Journal: Journal of child neurology

Published: April 24, 2019

Correlating the global increase in type 1 diabetes incidence across age groups with national economic prosperity: A systematic review.

Correlating the global increase in type 1 diabetes incidence across age groups with national economic prosperity: A systematic review.

Journal: World journal of diabetes

Published: March 08, 2019

RNASEH1 gene variants are associated with autoimmune type 1 diabetes in Colombia.

RNASEH1 gene variants are associated with autoimmune type 1 diabetes in Colombia.

Journal: Journal of endocrinological investigation

Published: March 10, 2017

Classical HLA alleles tag SNP in families from Antioquia with type 1 diabetes mellitus

Classical HLA alleles tag SNP in families from Antioquia with type 1 diabetes mellitus

Journal: Biomedica : revista del Instituto Nacional de Salud

Published: January 20, 2017

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Last Updated: 09/26/2026