Osvaldo M Mutchinick
- Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 lociO M Mutchinick
Departamento de Genetica, Instituto Nacional de la Nutricion Salvador Zubiran, Mexico, D F
Am J Med Genet 85:99-104. 1999..These findings and the phenotype of the proposita, strongly suggest that genes telomeric to LIS1 and locus D17S379 are involved in many clinical findings, including the minor facial anomalies of the Miller-Dieker syndrome...
- High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defectsO M Mutchinick
Departamento de Genetica, Instituto Nacional de la Nutricion Salvador Zubiran, Mexico, D F, Mexico
Mol Genet Metab 68:461-7. 1999..8 (95% Cl 3.4-10.3) for a Mexican being homozygous for the mutation. These findings may explain an important part of the high prevalence of NTD observed in our population...
- [Medicine in a genetic and molecular context]Osvaldo M Mutchinick
Rev Invest Clin 55:186-90. 2003
- A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotypeOsvaldo M Mutchinick
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico
Fertil Steril 83:201-4. 2005..To report a rare case of gonadal agenesis with rudimentary paramesonephric ducts derivatives in a female with a 46,XX normal karyotype...
- Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and ResearchOsvaldo M Mutchinick
Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Departamento de Genetica, Registro y Vigilancia Epidemiológica de Malformaciones Congénitas, Mexico City, Mexico
Am J Med Genet C Semin Med Genet 157:274-87. 2011..Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature...
- Genetic Risk Determinants for Cigarette Smoking Dependence in Mexican Mestizo FamiliesYevgeniya Svyryd
Departament of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F, Mexico
Nicotine Tob Res 18:620-5. 2016..Mexican smokers differ from Caucasian and other ethnic groups, probably due to sociocultural and genetic background characteristics. This study explored the effect of known genetic variants on smoking behavior in Mexico City residents...
- Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro SyndromeOscar F Chacon-Camacho
Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico
Rev Invest Clin 68:269-274. 2016..SALL4 mutations have been identified in 80-90% of patients with Duane- Radial ray defects/Okihiro syndrome. We report the clinical findings and results of SALL4 sequencing from a group of Mexican patients with this disorder...
- [Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment]Jazmín Arteaga-Vázquez
Departamento de Genetica, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, DF, Mexico
Salud Publica Mex 54:579-86. 2012..To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders...
- Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican familiesJazmín Arteaga-Vázquez
Departamento de Genetica, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F, Mexico
J Cosmet Dermatol 14:268-73. 2015..Several studies indicate that the numbers of CAG/GGC repeats in exon 1 of the androgen receptor gene (AR) maybe associated with AGA susceptibility...
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 geneNancy Monroy
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Vasco de Quiroga 15, Seccion XVI, 14000 Mexico City, Mexico
Eur J Med Genet 51:245-50. 2008....
- Identification of Copy Number Variations in Isolated Tetralogy of FallotAdolfo Aguayo-Gómez
Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F, Mexico
Pediatr Cardiol 36:1642-6. 2015..This deletion was not present in the patient's parents and 104 chromosomes from healthy control subjects. Our results clearly suggest a possible etiologic association between the TBX1 deletion and the ToF in our patient...
- [Diabetes, pregnancy and birth defects]Jazmín Arteaga
Departamento de Genetica, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F
Rev Invest Clin 60:107-14. 2008..The reported frequency of congenital malformations (CM) in diabetic mothers is 5.5 to 10%, contributing these defects to approximately 40% of the neonatal mortality in children of diabetic mothers (CDM)...
- Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63Juan Carlos Zenteno
Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico
Am J Med Genet A 134:74-6. 2005..Based on the genotype-phenotype correlation observed in our patient, we hypothesize that integrity of the TA domain of Tp63 is critical for normal limb development...
- Association of vitamin D receptor polymorphisms with osteoporosis in mexican postmenopausal womenRuben Lisker
Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Tlalpan 14000, D F Mexico
Hum Biol 75:399-403. 2003....
- Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populationsRosa Maria Guéant-Rodriguez
INSERM U 724, Cellular and Molecular Pathology in Nutrition, Faculte de Medecine, University Henry Poincaré of Nancy, Vandoeuvre les Nancy, France
Am J Clin Nutr 83:701-7. 2006..Distribution of MTHFR 1298A-->C is less well known. It has been hypothesized that 677T frequency could result in part from gene-nutrient interactions...