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
- 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...
- 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...
- 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....
- [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...
- [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...