A5050986820- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Chromosomal and Genetic Variations
- Congenital heart defects research
- BRCA gene mutations in cancer
- Genetic Syndromes and Imprinting
- Congenital Heart Disease Studies
- Sexual Differentiation and Disorders
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
- Connexins and lens biology
- Mosquito-borne diseases and control
- Genomic variations and chromosomal abnormalities
- Animal Genetics and Reproduction
- Medical Imaging and Pathology Studies
- Urological Disorders and Treatments
- Heterotopic Ossification and Related Conditions
- Protein Tyrosine Phosphatases
- Cancer Genomics and Diagnostics
- Ocular Diseases and Behçet’s Syndrome
- DNA Repair Mechanisms
- Urologic and reproductive health conditions
- Tracheal and airway disorders
- Hearing, Cochlea, Tinnitus, Genetics
- Folate and B Vitamins Research
- Genomics and Rare Diseases
Universidad Autónoma de Nuevo León
2013-2024
Hospital Universitario Dr José Eleuterio Gonzalez
2014-2022
Pathogenic variants (PVs) of BRCA genes entail a lifetime risk developing breast cancer in 50-85% carriers. Their prevalence different populations has been previously reported. However, there is scarce information regarding the most common PVs these Latin-Americans. This study identified BRCA1 and BRCA2 PV frequency high-risk female population from Northeastern Mexico determined association mutations with patients' clinical pathological characteristics.Women were divided into three groups:...
Background: DNA methylation is the best epigenetic mechanism for explaining interactions between nutrients and genes involved in intrauterine growth development programming. A possible contributor of abnormalities to congenital heart disease folate regulatory pathway; however, mechanisms patterns VSD-associated are not fully understood. Objective: To determine if maternal dietary intake folic acid (FA) related status (MS) (AXIN1, MTHFR, TBX1, TBX20). Methods: Prospective case–control study;...
Abstract Aarskog–Scott syndrome ( AAS ), also known as faciogenital dysplasia FGD , OMIM # 305400), is an X‐linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, urogenital abnormalities. caused mutations in the 1 gene (Xp11.22), with over 56 different identified to date. We present clinical molecular analysis four unrelated families Mexican origin phenotype, whom sequencing was performed. This two stop not previously reported literature: p.Gln664*...
In this study, we examined the doses of stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper screening sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes assess method as neonatal strategy.This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, ≥18 years), four patients known...
BACKGROUND:Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails teeth. In addition, 60% of cases present congenital heart defects. Ellis-van predominantly caused mutations in the EVC or EVC2 (4p16) genes, with only a few WDR35. CASE REPORT:Here, we report on two Mexican families patients diagnosed syndrome. Family 1 includes four patients:...
Turner Syndrome (TS) is an unfavorable genetic condition with a prevalence of 1:2500 in newborn girls. Prompt and effective diagnosis very important to appropriately monitor the comorbidities. The aim present study was propose feasible practical molecular diagnostic tool for screening by quantifying gene dosage SHOX, VAMP7, XIST, UBA1, SRY genes quantitative polymerase chain reaction (qPCR) individuals complete X monosomy, as well those TS variants, then compare results controls without...
Abstract The family observed in this study included affected males and asymptomatic females. patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, brachydactyly. In addition, the exhibited mild‐to‐moderate intellectual disability short stature coupled with microbrachycephaly, scoliosis, cerebellar renal hypoplasia. No chromosomal alterations or copy number variations were found index case. genetic linkage analysis, which focused on X...
(1) Background: The interaction between single nucleotide variants (SNVs) associated with congenital heart diseases (CHDs) and their gene methylation status has not been well researched. aim of the present study was to determine if there is a relationship methy lation (MS) genes allelic CHDs. (2) Methods: Seven SNVs AXIN1, TBX1, TBX20, MTHFR were selected from literature. DNA extraction, genotyping, analysis performed on healthy subjects (3) Results: Twenty-two CHDs as case group (15...
Las arbovirosis son transmitidas a los humanos mediante artrópodos vectores; por ejemplo: dengue y chikungunya. Existe evidencia que infecciones virus pueden modificar epigenéticamente al huésped facilitando su ciclo de vida. La identificación tales interacciones puede proporcionar información sobre la base mecánica las con estrategias investigación avanzadas destinadas abordar actual falta soluciones para intervención terapia. El objetivo fue evaluar manera in vitro modulación distintos...
Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means gene copy number quantification short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials Methods: Gene doses SHOX, VAMP7, were determined quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples Relative values obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 (out range)...
ABSTRACTBackground Wieacker-Wolff syndrome is an ultra-rare disease with X-linked inheritance characterized by arthrogryposis, intellectual disability, microcephaly, and distal limb muscle atrophy. Ophthalmic abnormalities such as ptosis, strabismus, oculomotor apraxia have been reported in half of the patients. female-restricted (WRWFFR) even rarer recently used for females a more severe phenotype.Materials Methods Clinical geneticist ophthalmic examination, neuroimaging, exome...
Emerging and re-emerging vector-borne infections are a global public health threat. In endemic regions, fever is the main reason for medical attention, etiological agent of such not usually identified. this study, non-specific febrile pathogens were molecularly characterized in serum samples from 253 patients suspected arbovirus infection. The collected southern border region Mexico April to June 2015, February March 2016. ZIKV, CHIKV, DENV, leptospirosis, rickettsiosis detected by qPCR...
El asesoramiento genético consiste en brindar información verdadera, íntegra y objetiva una relación de atención profesional que proporciona orientación permite a los pacientes sus familias tomar decisiones informadas, con respeto su autonomía. es fundamental no solamente para el diagnóstico sino también previo efectuar cualquier prueba genética debe proseguir después si resultados comprenden alternativas individuo la familia. estar al alcance todos confundirse aconsejar. tiene dos...