Fonseca DJ - Search Results

1

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

Ojeda D, Lakhal B, Fonseca DJ, Braham R, Landolsi H, Mateus HE, Restrepo CM, Elghezal H, Saâd A, Laissue P. Ojeda D, et al. Among authors: fonseca dj. Fertil Steril. 2011 Jun 30;95(8):2658-60.e1. doi: 10.1016/j.fertnstert.2011.04.045. Epub 2011 May 14. Fertil Steril. 2011. PMID: 21575944 Free article.

2

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.

Ortega-Recalde O, Moreno MB, Vergara JI, Fonseca DJ, Rojas RF, Mosquera H, Medina CL, Restrepo CM, Laissue P. Ortega-Recalde O, et al. Among authors: fonseca dj. Clin Exp Dermatol. 2015 Oct;40(7):757-60. doi: 10.1111/ced.12627. Epub 2015 Mar 9. Clin Exp Dermatol. 2015. PMID: 25754682

3

Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.

Ortega-Recalde O, Silgado D, Fetiva C, Fonseca DJ, Laissue P. Ortega-Recalde O, et al. Among authors: fonseca dj. Br J Dermatol. 2016 Dec;175(6):1372-1375. doi: 10.1111/bjd.14969. Epub 2016 Oct 23. Br J Dermatol. 2016. PMID: 27518765 No abstract available.

4

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT. Diggle CP, et al. Among authors: fonseca dj. Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22553128

5

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

Fonseca DJ, Rojas RF, Vergara JI, Ríos X, Uribe C, Chávez L, Velandia F, Vargas CI, Restrepo CM, Laissue P. Fonseca DJ, et al. Br J Dermatol. 2013 Feb;168(2):456-8. doi: 10.1111/j.1365-2133.2012.11181.x. Br J Dermatol. 2013. PMID: 22834809 No abstract available.

6

Population data on 15 autosomal STRs in a sample from Colombia.

Sánchez-Diz P, Acosta MA, Fonseca D, Fernández M, Gómez Y, Jay M, Alape J, Lareu MV, Carracedo A, Restrepo CM. Sánchez-Diz P, et al. Forensic Sci Int Genet. 2009 Jun;3(3):e81-2. doi: 10.1016/j.fsigen.2008.08.002. Epub 2008 Sep 13. Forensic Sci Int Genet. 2009. PMID: 19414157

7

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

Fonseca DJ, Morel A, Llinás-Caballero K, Bolívar-Salazar D, Laissue P. Fonseca DJ, et al. Pharmgenomics Pers Med. 2021 Mar 1;14:287-299. doi: 10.2147/PGPM.S289869. eCollection 2021. Pharmgenomics Pers Med. 2021. PMID: 33688237 Free PMC article.

8

Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.

Fonseca DJ, Caro LA, Sierra-Díaz DC, Serrano-Reyes C, Londoño O, Suárez YC, Mateus HE, Bolívar-Salazar D, Ramírez AF, de-la-Torre A, Laissue P. Fonseca DJ, et al. Hum Genet. 2019 Dec;138(11-12):1267-1274. doi: 10.1007/s00439-019-02066-w. Epub 2019 Oct 14. Hum Genet. 2019. PMID: 31642954

9

FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia.

Quintero-Ronderos P, Jiménez KM, Esteban-Pérez C, Ojeda DA, Bello S, Fonseca DJ, Coronel MA, Moreno-Ortiz H, Sierra-Díaz DC, Lucena E, Barbaux S, Vaiman D, Laissue P. Quintero-Ronderos P, et al. Among authors: fonseca dj. Mol Med. 2019 Aug 8;25(1):37. doi: 10.1186/s10020-019-0104-3. Mol Med. 2019. PMID: 31395028 Free PMC article.

10

Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients.

Galvez JM, Restrepo CM, Contreras NC, Alvarado C, Calderón-Ospina CA, Peña N, Cifuentes RA, Duarte D, Laissue P, Fonseca DJ. Galvez JM, et al. Among authors: fonseca dj. Pharmgenomics Pers Med. 2018 Oct 16;11:169-178. doi: 10.2147/PGPM.S170515. eCollection 2018. Pharmgenomics Pers Med. 2018. PMID: 30410385 Free PMC article.

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