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Luis Daniel Campos Acevedo

Líneas de investigación

1.-Identificación de mutaciones genéticas o cromosómicas de importancia clínica

2.- Identificación de biomarcadores para enfermedades genéticas

3.- Aplicación de la medicina genómica en nuestra población

Aportaciones en investigación y académicas

Profesor de pregado y posgrado de la facultad de medicina de la UANL. Titular de la especialidad en Genética Médica del Hospital Universitario de la UANL.

Participación de los siguientes artículos:

1. Molecular diagnosis of Retinal Dystrophies in Mexican patients. Investigative Ophthalmology & Visual Science 64 (8), 1530-1530.

2. Congenital Heart Diseases: Genetic Risk Variants and Their Methylation Status. Genes 13 (11), 2115.

3. Molecular characterization of associated pathogens in febrile patients during inter-epidemic periods of urban arboviral diseases in Tapachula southern Mexico, Pathogens 10 (11), 1450.

4. Maternal folic acid intake and methylation status of genes associated with ventricular septal defects in children: Case–control study, Nutrients 13 (6), 2071.

5. A case series of infants with increased VAMP7 gene dosage at birth and virilization defects, Journal of Pediatric Urology 16 (4), 423. e1-423. e6.

6. Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates, Genetic testing and molecular biomarkers 24 (6), 352-358.

7. Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case–control study, BMC cancer 19 (1), 1-8.

8. Bloom syndrome sans characteristic facial features in a Mestizo patient-a diagnostic challenge, Indian Journal of Dermatology, Venereology and Leprology 85, 130.

9. Phenotypic Variation in patients with homozygous c. 1678G> T mutation in EVC Gene: report of two mexican families with ellis-van creveld syndrome, The American Journal of Case Reports 18, 1325.

10. Dosage of sex chromosomal genes in blood deposited on filter paper for neonatal screening of sex chromosome aneuploidy, Genetic Testing and Molecular Biomarkers 20 (12), 786-790.

11. Clinical and molecular analysis in a series of mexican patients with clinical diagnosis of fibrodysplasia ossificans progressiva (FOP), Int J Clin Exp Med 9 (1), 423-432.

12. Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome, Molecular Genetics & Genomic Medicine 3 (3), 197-202.

13. Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes, Genetic testing and molecular biomarkers 19 (2), 88-92.

14. GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico, International Journal of Pediatric Otorhinolaryngology 78 (12), 2107-2112.

15. Nueva mutación en el gen RAB27A en una familia mexicana con Síndrome de Griscelli tipo 2, Dermatol. pediátr. latinoam.(En línea), 68-71.

16. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements, Cell 146 (6), 889-903.

17. Thanatophoric dysplasia in twins: prenatal findings and literature review, Perinatología y Reproducción Humana 24 (1), 36-41