Search Results - "KOLOMIETZ, E"

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  1. 1

    Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta‐analysis by Pauta, M., Grande, M., Rodriguez‐Revenga, L., Kolomietz, E., Borrell, A.

    Published in Ultrasound in obstetrics & gynecology (01-04-2018)
    “…ABSTRACT Objective To estimate the increased test success rate and incremental yield of chromosomal microarray analysis (CMA) over conventional karyotyping in…”
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  2. 2

    Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency by Sinajon, P., Chitayat, D., Roifman, M., Wasim, S., Carmona, S., Ryan, G., Noor, A., Kolomietz, E., Chong, K.

    Published in Ultrasound in obstetrics & gynecology (01-03-2020)
    “…ABSTRACT Objectives To determine the incidence of chromosomal abnormalities, submicroscopic chromosomal abnormalities and RASopathy‐disorder (RD) pathogenic…”
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  3. 3

    Implementation of a Spacecraft Solar-Orientation Model Using a Reaction-Wheel System by Ignatov, A. I., Ivanov, G. A., Kolomietz, E. S., Martynenkova, E. V.

    Published in Cosmic research (01-04-2023)
    “…The mode of maintaining a solar orientation of spacecraft–gyrostat in low Earth orbit for a long time has been studied. The spacecraft is close to a cylinder…”
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    Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol by Wou, K, Hyun, Y, Chitayat, D, Vlasschaert, M, Chong, K, Wasim, S, Keating, S, Shannon, P, Kolomietz, E

    Published in European journal of medical genetics (01-08-2016)
    “…Abstract Objective To evaluate the performance of a laboratory protocol for direct genetic analysis performed on tissues obtained from miscarriages, stillbirth…”
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  6. 6

    Functional disomy of Xp: Prenatal findings and postnatal outcome by Kolomietz, E., Godbole, K., Winsor, E.J.T., Stockley, T., Seaward, G., Chitayat, D.

    “…We report on trisomy of the short arm of the X chromosome (Xp11.2 → pter) due to a de novo unbalanced X;13 translocation diagnosed prenatally in a female…”
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  7. 7
  8. 8

    The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors by Kolomietz, Elena, Meyn, M. Stephen, Pandita, Ajay, Squire, Jeremy A.

    Published in Genes chromosomes & cancer (01-10-2002)
    “…There is increasing evidence for the involvement of repetitive DNA sequences as facilitators of some of the recurrent chromosomal rearrangements observed in…”
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  9. 9

    Primary chromosomal rearrangements of leukemia are frequently accompanied by extensive submicroscopic deletions and may lead to altered prognosis by Kolomietz, Elena, Al-Maghrabi, Jaudah, Brennan, Shawn, Karaskova, Jana, Minkin, Solomon, Lipton, Jeffrey, Squire, Jeremy A.

    Published in Blood (01-06-2001)
    “…BCR/ABL fluorescent in situ hybridization study of chronic myeloid leukemia (CML) and Philadelphia+(Ph+) acute lymphoid leukemia (ALL) indicated that…”
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  10. 10

    Cytogenetic Aberrations and Immunoglobulin V sub(H) Gene Mutations in Clinically Benign CD5- Monoclonal B-Cell Lymphocytosis by Amato, D, Oscier, D G, Davis, Z, Mould, S, Zheng, J, Kolomietz, E, Wang, C

    Published in American journal of clinical pathology (01-08-2007)
    “…The finding of monoclonal B-cell lymphocytosis (MBL) raises questions on the nature of clonal cell expansion and its risk of progression. We identified and…”
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  11. 11

    Quantitative PCR identifies a minimal deleted region of 120 kb extending from the philadelphia chromosome ABL translocation breakpoint in chronic myeloid leukemia with poor outcome by KOLOMIETZ, E, MARRANO, P, SQUIRE, J. A, YEE, K, THAI, B, BRAUDE, I, KOLOMIETZ, A, CHUN, K, MINKIN, S, KAMEL-REID, S, MINDEN, M

    Published in Leukemia (01-07-2003)
    “…Fluorescence in situ hybridization (FISH) analysis has shown previously that 10-15% of chronic myeloid leukemias (CML) have hemizygous deletions of variable…”
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  12. 12

    Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression by Kolomietz, Elena, Ben-Omran, Tawfeg, Chitayat, David, Mah, Mimi, Murphy, Jillian, Nie, Gloria, Teshima, Ikuko

    “…Detection of abnormal karyotypes with associated clinical manifestations is an important tool for the identification of genes that confer susceptibility to…”
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