Search Results - "de Michelena, M I"

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high-resolution CGH and multiplex FISH analyses by Huang, X-L, De Michelena, MI, Mark, HFL, Harston, R, Benke, PJ, Price, SJ, Milunsky, A

“…Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable…”
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Paternal age as a risk factor for Down syndrome by de Michelena, M I, Burstein, E, Lama, J R, Vásquez, J C

“…Although the effect of maternal age as a risk factor for Down syndrome (DS) is well known, the role of paternal age in the cause of DS has not been clearly…”
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Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: The first reported cases from Latin America by de Michelena, Maria Isabel, Franchi, Luis Miguel, Summers, Percy G., De La Fuente, Carlos, Campos, Patricia J., Jaeken, Jaak

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Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21) by de Michelena, M I, Villacorta, J, Chávez, J

“…We describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short…”
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A new case of proximal 10q partial trisomy by de Michelena, M I, Campos, P J

“…We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11---10q22. The similarities to two previously reported cases with an…”
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Terminal deletion 4q in a severely retarded boy by de Michelena, M I, Campos, P J

“…We report a boy with a de novo terminal deletion of chromosome 4q, (q31---qter) and compare him to 17 previously reported cases with the same anomaly. This…”
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Multiple anomalies possibly caused by a human homologue to the mouse disorganization (Ds) gene by de Michelena, M I, Stachurska, A

“…We describe a female infant with a combination of hamartomas and limb reduction anomalies, which might be caused by a human gene homologous to the mouse mutant…”
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Short Report: Characterization of an analphoid supernumerary marker chromosome derived from 15q251qter using high-resolution CGH and multiplex FISH analyses by Huang, X-L, de Michelena, MI, Mark, HFL, Harston, R, Benke, P J, Price, S J, Milunsky, A

“…Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable…”
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Short Report: Characterization of an analphoid supernumerary marker chromosome derived from 15q25[Right arrow]qter using high-resolution CGH and multiplex FISH analyses by Huang, X-L, de Michelena, MI, HFL, Mark, Harston, R, Benke, P J, Price, S J, Milunsky, A

“…Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable…”
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Trisomy 8: an additional case with unique manifestations [correction] by de Michelena, M I, Sánchez, R, Muñoz, P, Cabello, E, Rojas, P, de Olazaval, E

“…We report on an infant with multiple congenital anomalies and mosaic trisomy 8 [corrected]. Clinical findings are presented, and compared with those of the 24…”
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Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America by de Michelena, M I, Franchi, L M, Summers, P G, De La Fuente, C, Campos, P J, Jaeken, J

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