Detalhe da pesquisa
1.
KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.
Int J Mol Sci
; 25(2)2024 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38256028
2.
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.
Int J Mol Sci
; 23(4)2022 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-35216452
3.
Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys).
Int J Mol Sci
; 23(21)2022 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36362411
4.
Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy.
Rev Invest Clin
; 73(5)2020 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33048919
5.
Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes.
Gynecol Endocrinol
; 35(9): 772-776, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30887870
6.
Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population.
BMC Med Genet
; 18(1): 46, 2017 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28464932
7.
CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.
Mol Vis
; 20: 105-16, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24453474
8.
Low diagnostic accuracy of fragile X tremor/ataxia syndrome diagnostic criteria in late onset ataxia.
Mov Disord
; 34(4): 582-583, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30735585
9.
[Genomic medicine in public health policies: a perspective of Mexican biomedical researchers]. / La medicina genómica en las políticas de salud pública: una perspectiva de investigadores mexicanos del área biomédica.
Salud Publica Mex
; 55(1): 16-25, 2013.
Artigo
Espanhol
| MEDLINE | ID: mdl-23370255
10.
Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Mol Cytogenet
; 16(1): 2, 2023 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36631885
11.
Carbohydrate intake modulates the effect of the ABCA1-R230C variant on HDL cholesterol concentrations in premenopausal women.
J Nutr
; 142(2): 278-83, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22190032
12.
Association study of DRD3 gene in schizophrenia in Mexican sib-pairs.
Psychiatry Res
; 190(2-3): 367-8, 2011 Dec 30.
Artigo
Inglês
| MEDLINE | ID: mdl-21737144
13.
Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.
Genes (Basel)
; 13(1)2021 12 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35052356
14.
Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression.
Front Cardiovasc Med
; 8: 625449, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33693037
15.
Interaction of HLA Class II rs9272219 and TMPO rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population.
Front Genet
; 12: 647343, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34335680
16.
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.
Rev Invest Clin
; 62(6): 546-52, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-21416780
17.
Genes frequently associated with sudden death in primary hypertrophic cardiomyopathy.
Arch Cardiol Mex
; 90(1): 58-68, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31996869
18.
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.
Mol Genet Genomic Med
; 8(11): e1504, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32969603
19.
FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México.
Mol Genet Genomic Med
; 7(6): e710, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31044565
20.
Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature.
Cancer Genet Cytogenet
; 180(2): 129-34, 2008 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18206538