Zobrazeno 1 - 10
of 19
pro vyhledávání: '"M J Macera"'
Publikováno v:
Cytogenetic and Genome Research. 69:235-239
We report on a so-called rare variant where a G-positive band was sandwiched within the secondary constriction (qh) region of chromosome 9 and is apparently different from previous cases when characterized by the fluorescence in situ hybridization te
Publikováno v:
Biotechnichistochemistry : official publication of the Biological Stain Commission. 72(3)
Denaturation of chromosomal DNA for fluorescence in situ hybridization (FISH) is an essential step in a procedure associated with a number of variables. In our experience, shorter denaturation time in 70% formamide/2 × SSC at 72 C provides sufficien
Publikováno v:
Annales de genetique. 40(1)
A newborn infant was referred for evaluation because of ambiguous genitalia. Examination of the genitalia revealed a hypospadiac phallus measuring 1.5 cm in length with chordee. Subtle phenotypic features consistent with Turner syndrome were present
Publikováno v:
American journal of hematology. 52(1)
We report a case of human T-cell lymphotropic virus type 1 (HTLV-1)-infected adult T-cell lymphoma that has multiple chromosomal abnormalities, including the presence of an additional 7q22-36, which contains the locus of the T-cell receptor (TCR) bet
Publikováno v:
Leukemia. 8(3)
Human T-lymphotropic virus type I (HTLV-1) integration has been associated with the development of adult T-cell leukemia/lymphoma (ATL). Recently, a correlation between T-cell receptor (TCR) gene rearrangements and chromosomal aberrations has been im
Publikováno v:
American journal of human genetics. 52(5)
Heterochromatin confined to pericentromeric (c) and secondary constriction (qh) regions plays a major role in morphological variation of chromosome 9, because of its size and affinity for pericentric inversion. Consequently, pairing at pachytene may
Autor:
A Selvakumar, Paul Szabo, D Weksler, M. Clinton, M Frangou-Lazaridis, B.L. Horecker, E Whittington, Karl-Heinz Grzeschik, C. Panneerselvam, M J Macera
Publikováno v:
Human genetics. 90(6)
A genomic clone encoding prothymosin alpha (gene symbol: PTMA), a nuclear-targeted protein associated with cell proliferation, was isolated and the 5'-regulatory region subcloned and sequenced. Because of previously reported discrepancies between sev
Publikováno v:
Genetics in Medicine. 2:93
Specific chromosomal abnormality are related to over 70 clinical syndromes representing 0.5-0.7 percent in live births. For the past three years, we were referred 986 individuals with various clinical problems including: congenital malformation, ment
Publikováno v:
Genetics in Medicine. 1:71
The disappearance of one or more gestational rings on repeated ultrasonic examination during the 1 st trimester have led to the vanishing twin phenomenon. In recent years, the concept of vanishing twins has gained much attention during genetic amnioc
Publikováno v:
Genetics in Medicine. 1:70
Morphological variations of human chromosomes due to heterochromatic DNA have been the subject of numerous speculations for a quarter of century. Chromosomal variations or heteromorphisms have been correlated to a number of clinical parameters and a