13 research outputs found
Genetic heterogeneity of X-linked mental retardation with fragile X Association of tight linkage to factor IX and incomplete penetrance in males
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Induction of endoreduplication in double minutes of the human neuroblastoma cells and the replication pattern.
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Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture
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Constitutional karyotype in retinoblastoma. Case report and review of literature
No full textHigh resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed
