Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Anni Hallberg"'
Publikováno v:
Human Genetics. 102:440-445
Fragile X syndrome is usually caused by expansion of a trinucleotide (CGG) repeat in the 5'-untranslated region of the FMR1 gene. However, both deletions and point mutations in FMR1 have been identified as rare causes of the fragile X syndrome. We ha
Autor:
Michael B. Petersen, Sallie B. Freeman, Anni Hallberg, Yuanchao Gu, Terry J. Hassold, Stephanie L. Sherman, Denise Saker, Margareta Mikkelsen, Dorothy Pettay, Dimitris Avramopoulos, Kristen M. May, Neil E. Lamb, Joseph J. Shen, Amanda Savage-Austin, Jane Hersey, Lisa Taft
Publikováno v:
Nature Genetics. 14:400-405
The cause of non-disjunction of chromosome 21 remains largely unknown. Advanced maternal age is associated with both maternal meiosis I (MI) and meiosis II (MII) non-disjunction events. While reduced genetic recombination has been demonstrated in mat
Autor:
Georgia Karadima, Sallie B. Freeman, Anni Hallberg, Yuanchao Gu, Dorothy Pettay, Amanda Savage, Margareta Mikkelsen, Neil E. Lamb, Stephanie L. Sherman, Michael B. Petersen, Terry J. Hassold, Jane Hersey, Eleanor Feingold, Dimitris Avramopoulos, Denise Saker, Lisa Taft, Joseph J. Shen
Publikováno v:
Human molecular genetics. 6(9)
Recent studies of trisomy 21 have shown that altered levels of recombination are associated with maternal non-disjunction occurring at both meiosis I (MI) and meiosis II (MII). To comprehend better the association of recombination with nondisjunction
Publikováno v:
ResearcherID
Placental tissue with macroscopic visible vesicles was processed for chromosome analysis. Enzymatic tissue dissociation, culture initiation in Chang's medium, and final culture in a medium with high glucose content were used, which increased the succ
Publikováno v:
ResearcherID
In a search for minute structural aberrations indicating chromosomal regions of importance for the development of a hydatidiform mole, five diploid androgenetic moles and two partial dispermic moles were examined by high resolution banding technique.
Publikováno v:
Human genetics. 32(1)
Fluorescence markers were studied in 40 patients with Down's syndrome and their parents. In 11 cases maternal and in 5 cases paternal non-disjunction could be shown. The disjunctional event occurred in the first meiotic division in 5 maternal and in