Detalles de la búsqueda
1.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34815299
2.
Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population.
Int J Mol Sci
; 24(21)2023 Oct 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37958671
3.
SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk.
Curr Issues Mol Biol
; 44(11): 5221-5233, 2022 Oct 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36354667
4.
Generalized hypertrichosis syndromes in Mexico.
Am J Med Genet C Semin Med Genet
; 184(4): 1014-1022, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33283427
5.
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients.
Am J Med Genet C Semin Med Genet
; 184(4): 1023-1029, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33274538
6.
Severe Craniofacial Involvement due to Amniotic Band Sequence.
Fetal Pediatr Pathol
; 37(1): 27-37, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29336649
7.
Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome).
Neurol Sci
; 38(3): 445-450, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-27913904
8.
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.
Am J Hum Genet
; 88(6): 819-826, 2011 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-21636067
9.
Early- and Late-Onset Alzheimer's Disease: Two Sides of the Same Coin?
Diseases
; 12(6)2024 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38920542
10.
Association of the rs1966265 and rs351855 FGFR4 Variants with Colorectal Cancer in a Mexican Population and Their Analysis In Silico.
Biomedicines
; 12(3)2024 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38540215
11.
Intron 4 VNTR (4a/b) polymorphism of the endothelial nitric oxide synthase gene is associated with breast cancer in Mexican women.
J Korean Med Sci
; 28(11): 1587-94, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24265520
12.
Perceptions of Knowledge, Disease Impact and Predictive Genetic Testing in Family Members at Risk to Develop Early-Onset Alzheimer's Disease (EOAD) and Their Levels of Suicidal Ideation: A Mixed Study.
Brain Sci
; 13(3)2023 Mar 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36979311
13.
Association of the rs8720 and rs12587 KRAS Gene Variants with Colorectal Cancer in a Mexican Population and Their Analysis In Silico.
Cells
; 12(15)2023 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37566020
14.
[Current genetic issues and phenotypic variants in Kallmann syndrome]. / Síndrome de Kallmann. Aspectos genéticos y variantes fenotípicas.
Rev Med Inst Mex Seguro Soc
; 50(2): 157-61, 2012.
Artículo
en Español
| MEDLINE | ID: mdl-22882983
15.
Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis.
Biology (Basel)
; 11(9)2022 Aug 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36138766
16.
ESR2 gene variants (rs1256049, rs4986938, and rs1256030) and their association with breast cancer risk.
PeerJ
; 10: e13379, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35573183
17.
Therapeutic goals in the treatment of Fabry disease.
Genet Med
; 12(11): 713-20, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20975569
18.
Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.
Genet Med
; 12(11): 668-79, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20962662
19.
Protective effect of rs712 polymorphism in a let-7 microRNA-binding of KRAS gene in breast cancer of a Mexican population.
J BUON
; 25(1): 176-181, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32277629
20.
Association of the IL-10 gene rs1800872 (-592 C>A) polymorphism with breast cancer in a Mexican population.
J BUON
; 24(6): 2369-2376, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31983108