This review describes the recognition and effects of thalidomide as a potent teratogenic agent sixty years ago. A systematic analysis revealed a broad spectrum of multiple congenital birth defects involving many organ systems. More than 5000 affected individuals have been observed in Germany, more than 10 000 globally.
View Article and Find Full Text PDFGenetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations.
View Article and Find Full Text PDFIn the early 1960s, J. German established the non-synchronous human DNA replication pattern in metaphases of cultured lymphocytes and fibroblasts. This could be used to distinguish several chromosomes of similar morphology.
View Article and Find Full Text PDFWe review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy was present in all individuals.
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