Pineda-Trujillo N - Search Results

1

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

Xie Z, Sun C, Liu Y, Yu M, Zheng Y, Meng L, Wang G, Cornejo-Sanchez DM, Bharadwaj T, Yan J, Zhang L, Pineda-Trujillo N, Zhang W, Leal SM, Schrauwen I, Wang Z, Yuan Y. Xie Z, et al. Among authors: pineda trujillo n. J Med Genet. 2021 Nov;58(11):743-751. doi: 10.1136/jmedgenet-2020-107113. Epub 2020 Sep 25. J Med Genet. 2021. PMID: 32978268

2

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

Cornejo-Sanchez DM, Carrizosa-Moog J, Cabrera-Hemer D, Solarte-Mila R, Gomez-Castillo C, Thomas R, Leal SM, Cornejo-Ochoa W, Pineda-Trujillo N. Cornejo-Sanchez DM, et al. Among authors: pineda trujillo n. J Child Neurol. 2019 Aug;34(9):491-498. doi: 10.1177/0883073819842422. Epub 2019 Apr 23. J Child Neurol. 2019. PMID: 31012364

3

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

Gomez-Lopera N, Alfaro JM, Leal SM, Pineda-Trujillo N. Gomez-Lopera N, et al. Among authors: pineda trujillo n. World J Diabetes. 2019 Nov 15;10(11):534-545. doi: 10.4239/wjd.v10.i11.534. World J Diabetes. 2019. PMID: 31798789 Free PMC article.

4

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

Gomez-Lopera N, Alfaro JM, Rodriguez AM, Ramirez A, Leal SM, Pineda-Trujillo N. Gomez-Lopera N, et al. Among authors: pineda trujillo n. Pediatr Diabetes. 2020 Nov;21(7):1183-1192. doi: 10.1111/pedi.13057. Epub 2020 Jul 23. Pediatr Diabetes. 2020. PMID: 32447804

5

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

Tascón-Arcila J, Rojas-Jiménez S, Cornejo-Sánchez D, Gómez-Builes P, Ucroz-Benavides A, Holguín BM, Restrepo-Arbeláez D, Gómez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W, Pineda-Trujillo N. Tascón-Arcila J, et al. Among authors: pineda trujillo n. J Child Neurol. 2021 Sep;36(10):875-882. doi: 10.1177/08830738211015017. Epub 2021 May 27. J Child Neurol. 2021. PMID: 34039076

6

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

Erazo Luna EV, Echavarría Sierra CJ, Cornejo-Sánchez DM, Sanclemente G, Pineda Trujillo NG. Erazo Luna EV, et al. Among authors: pineda trujillo ng. Medwave. 2021 Dec 3;21(11):e8492. doi: 10.5867/medwave.2021.11.002099. Medwave. 2021. PMID: 34882124 English, Spanish.

7

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

Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, University Of Washington Center For Mendelian Genomics, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM. Cornejo-Sanchez DM, et al. Among authors: pineda trujillo n. Genes (Basel). 2022 Apr 25;13(5):754. doi: 10.3390/genes13050754. Genes (Basel). 2022. PMID: 35627139 Free PMC article.

8

Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.

Ramírez-Castro JL, Pineda-Trujillo N, Valencia AV, Muñetón CM, Botero O, Trujillo O, Vásquez G, Mora BE, Durango N, Bedoya G, Ruiz-Linares A. Ramírez-Castro JL, et al. Am J Med Genet. 2002 Nov 15;113(1):47-51. doi: 10.1002/ajmg.10741. Am J Med Genet. 2002. PMID: 12400065

9

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A. Pineda-Trujillo N, et al. Neurology. 2005 Feb 22;64(4):740-2. doi: 10.1212/01.WNL.0000151974.44980.F1. Neurology. 2005. PMID: 15728307

10

Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family.

Caro-Gomez MA, Carrizosa J, Moreno JT, Cabrera D, Bedoya G, Ruiz-Linares A, Franco A, Gomez-Castillo C, Cornejo W, Pineda-Trujillo N. Caro-Gomez MA, et al. Epileptic Disord. 2013 Jun;15(2):128-31. doi: 10.1684/epd.2013.0570. Epileptic Disord. 2013. PMID: 23773973 Free article.

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