Search Results - "KOLOMIETZ, E"
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Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta‐analysis
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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Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency
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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Implementation of a Spacecraft Solar-Orientation Model Using a Reaction-Wheel System
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
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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Functional disomy of Xp: Prenatal findings and postnatal outcome
Published in American journal of medical genetics. Part A (01-05-2005)“…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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OC18.01: Whole‐genome sequencing for fetal structural anomalies
Published in Ultrasound in obstetrics & gynecology (01-10-2021)Get full text
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The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors
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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Primary chromosomal rearrangements of leukemia are frequently accompanied by extensive submicroscopic deletions and may lead to altered prognosis
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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Cytogenetic Aberrations and Immunoglobulin V sub(H) Gene Mutations in Clinically Benign CD5- Monoclonal B-Cell Lymphocytosis
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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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
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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Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05-04-2006)“…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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