Search Results - "MACERA, M. J"

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing by Macera, M. J., Sobrino, A., Levy, B., Jobanputra, V., Aggarwal, V., Mills, A., Esteves, C., Hanscom, C., Pereira, S., Pillalamarri, V., Ordulu, Z., Morton, C. C., Talkowski, M., Warburton, D.

“…What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome…”
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Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype by Velinov, M., Kupferman, J., Gu, H., Macera, M.J., Babu, A., Jenkins, E.C., Kupchik, G.

“…A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small…”
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Commentary: FISHing for the light at the ends of chromosomes by Verma, R S, Macera, M J

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Mechanisms of the origin of a G-positive band within the secondary constriction region of human chromosome 9 by Macera, M J, Verma, R S, Conte, R A, Bialer, M G, Klein, V R

“…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…”
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Prothymosin α gene in humans : organization of its promoter region and localization to chromosome 2 by SZABO, P, PANNEERSELVAM, C, CLINTON, M, FRANGOU-LAZARIDIS, M, WEKSLER, D, WHITTINGTON, E, MACERA, M. J, GRZESCHIK, K.-H, SELVAKUMAR, A, HORECKER, B. L

“…A genomic clone encoding prothymosin alpha (gene symbol: PTMA), a nuclear-targeted protein associated with cell proliferation, was isolated and the…”
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Molecular topography of the secondary constriction region (qh) of human chromosome 9 with an unusual euchromatic band by VERMA, R. S, LUKE, S, BRENNAN, J. P, MATHEWS, T, CONTE, R. A, MACERA, M. J

“…Heterochromatin confined to pericentromeric (c) and secondary constriction (qh) regions plays a major role in morphological variation of chromosome 9, because…”
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Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3 by Macera, M J, Szabo, P, Wadgaonkar, R, Siddiqui, M A, Verma, R S

“…Human myosin light chain-2 (MYL2) is an important protein involved in the regulation of myosin ATPase activity in smooth muscle. In cardiac muscle, the precise…”
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Direct visualization of the transposed ABL gene in a duplicated masked Ph chromosome by Macera, M J, Szabo, P, Lin, J H, DeSalvo, A T, Shah, H O, Verma, R S

“…In a small percentage of cases of chronic myelogenous leukemia (CML), where the Ph chromosome is masked because of highly complex translocations and…”
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A so-called rare heteromorphism of the human genome by Verma, R S, Luke, S, Conte, R A, Macera, M J

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Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques by Macera, M J, Sherman, J, Shah, H O, Blumberg, D L, Buttice, L S, Lin, J H, Verma, R S

“…A 12 1/2-month-old girl was referred because of short stature, short neck, large internipple distance and simian crease on her right hand. By routine…”
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Rapid denaturation improves chromosome morphology and permits multiple hybridizations during fluorescence in situ hybridization by Ramesh, K H, Macera, M J, Verma, R S

“…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…”
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T-cell receptor J beta I/J beta II locus rearrangements concurring with a complex chromosomal aberration in an HTLV-1 positive T-cell lymphoma by Macera, M J, DiPillo, F, Szabo, P, Ramirez, R, Gogineni, S, Verma, R S

“…Human T-lymphotropic virus type I (HTLV-1) integration has been associated with the development of adult T-cell leukemia/lymphoma (ATL). Recently, a…”
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Polyclonal lymphocytosis of T-cells associated with human T-cell leukemia virus I by POSNETT, D. N, MCGRATH, H. A, SCOTT, R. A, SCOTT MCNUTT, N, FOLKL, R, HICKEY, T. D, MACERA, M. J, SZABO, P

“…A patient with antibodies to human T-cell leukemia virus type I and the presence of integrated sequences of this virus in T-lymphocytes was investigated. In…”
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Molecular characterization of variant translocations in chronic myelogenous leukemia by Verma, R S, Macera, M J, Benn, P, Groffen, J

“…Five to ten percent of the Ph-positive cases of chronic myelogenous leukemia (CML), termed variant translocations, involve at least one chromosome in addition…”
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Intensity heteromorphisms of human chromosome 15p by DA/DAPI technique by Babu, A, Macera, M J, Verma, R S

“…We suggest that the short arms of human chromosome 15 (15p) exhibit intensity heteromorphisms by DA/DAPI technique. A method for classification of variable…”
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Ammonium chloride pretreatment of bloody amniotic fluids for cytogenetic analysis by Macera, M J, Roy, J, Verma, R S

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Characterization of chromosome 11 with a complex inversion and deletion in an AML [M2] using fluorescence in situ hybridization by Abdelaal, A F, Silver, R T, Macera, M J, Verma, R S

“…We report on a new case of AML [M2] where chromosome 11 was rearranged in a highly complex manner involving band 11q23. Routine G banding failed to identify…”
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Genomic diversity of Philadelphia-positive chronic myelogenous leukemia by Verma, R S, Macera, M J

“…The incidence of breakpoints in CML patients with variant translocations was investigated. There was no relationship between the length of various chromosomes…”
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Chromosomal localization of HTLV-1 viral integration sites using in situ hybridization: detection of a novel IL2R fragment by Macera, M J, Szabo, P, Verma, R S

“…The presence of human T-cell leukemia virus (HTLV-1) in patients with adult T-cell leukemia (ATL) was investigated by Southern blotting and in situ…”
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Further evidence of the involvement of the c-abl oncogene in chronic myelogenous leukemia and acute lymphocytic leukemia by Szabo, P, Macera, M J, Verma, R S

“…In an attempt to further substantiate the involvement of the c-abl oncogene in the genesis of chronic myelogenous leukemia (CML) and acute lymphocytic leukemia…”
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