María I. de Michelena
Universidad Peruana Cayetano Heredia(PE)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Glycosylation and Glycoproteins Research, Lysosomal Storage Disorders Research
Most-Cited Works
- → CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development(2012)104 cited
- → Paternal age as a risk factor for Down syndrome(1993)26 cited
- → Multiple anomalies possibly caused by a human homologue to the mouse disorganization (Ds) gene(1993)16 cited
- → Terminal deletion 4q in a severely retarded boy(1989)15 cited
- → A new case of proximal 10q partial trisomy.(1991)15 cited
- → Double chromosome anomaly: Interstitial deletion 5q and reciprocal translocation (1;11) (p22;q21)(1990)12 cited
- → Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome(2007)9 cited
- → Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: The first reported cases from Latin America(1999)8 cited
- → Trisomy 9: An additional case with unique manifestations(1992)8 cited
- → Enfoque actual del aborto recurrente(2012)5 cited