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Four cases of neonatal haemochromatosis presenting as fulminant hepatic failure in the newborn were diagnosed by autopsy. In all four cases the diagnosis was made by histochemical demonstration of… Continue Reading
We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth… Continue Reading
SummaryA male newborn is described with the typical clinical appearance of cat-eye syndrome. The clinical diagnosis at birth was confirmed by chromosomal analysis of peripheral blood lymphocytes and… Continue Reading
SummaryReport is given of a child with partial 8q trisomy (46,XX,+8q21-24), due to a de novo translocation. The trisomic state of this chromosome segment apparently induces a profound mental… Continue Reading
SummaryDescription is given of a malformed newborn with a previously unreported partial trisomy 1 due to an unbalanced familial translocation (karyotype 46,XY,12-,t(1q,… Continue Reading
Three achondroplastic sisters born to normal parents are reported. This report constitutes an unique example of germinal mosaicism in the human.
Hypogonadism of testicular origin in a 47-yr-old patient was found to be associated with a break of the short arms of autosome No. 2, and translocation on a small acrocentric chromosome, believed to… Continue Reading
SummaryDescription of a child with partial 13 trisomy due to non-familial translocation of most of the long arm of a chromosome No. 13 onto the long arm of chromosome No. 6.ZusammenfassungEs wird ein… Continue Reading