C Ramos Corrales

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OBJECTIVE Angelman (AS) and Prader-Willi (PWS) syndromes are two different neurogenetic diseases caused by a deficiency of maternal (AS) or paternal (PWS) contributions of the region 15q11-13. Molecular diagnosis of these pathologies can be accomplished by several techniques: DNA polymorphism (microsatellite) analysis, cytogenetic techniques of fluorescent(More)
We have performed the polymerase chain reaction (PCR) to study 26 patients affected with Duchenne muscular dystrophy as a direct diagnostic method of screening for gene deletions. We have amplified simultaneously 9 sequences which belong to 9 exons located along the two "hot spots" of the gene. We have detected deletions in many of the exons in 11 of the 26(More)
Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus(More)
This cytogenetic study deals with a family in which some members are carriers of 15p+ polymorphism variant, with an unusually elongated short arm. The chromosomal marker segregates in three generations, duplicating its length but without phenotypic manifestation in the carriers. An analysis by using banding techniques shows us the characteristics of the p+(More)
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