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  1. Artikel ; Online: Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.

    Salah, Somaya / Jaber, Hiba / Frumkin, Ayala / Harel, Tamar

    American journal of medical genetics. Part A

    2023  Band 191, Heft 10, Seite(n) 2623–2630

    Abstract: Genomic disorders result from heterozygous copy number variants (CNVs). Homozygous deletions spanning numerous genes are rare, despite the potential contribution of consanguinity to such instances. CNVs in the 22q11.2 region are mediated by nonallelic ... ...

    Abstract Genomic disorders result from heterozygous copy number variants (CNVs). Homozygous deletions spanning numerous genes are rare, despite the potential contribution of consanguinity to such instances. CNVs in the 22q11.2 region are mediated by nonallelic homologous recombination between pairs of low copy repeats (LCRs), from amongst eight LCRs designated A-H. Heterozygous distal type II deletions (LCR-E to LCR-F) have incomplete penetrance and variable expressivity, and can lead to neurodevelopmental issues, minor craniofacial anomalies, and congenital abnormalities. We report siblings with global developmental delay, hypotonia, minor craniofacial anomalies, ocular abnormalities, and minor skeletal issues, in whom chromosomal microarray identified a homozygous distal type II deletion. The deletion was brought to homozygosity as a result of a consanguineous marriage between two heterozygous carriers of the deletion. The phenotype of the children was strikingly more severe and complex than that of the parents. This report suggests that the distal type II deletion harbors a dosage-sensitive gene or regulatory element, which leads to a more severe phenotype when deleted on both chromosomes.
    Mesh-Begriff(e) Child ; Humans ; Chromosome Deletion ; Microarray Analysis ; DNA Copy Number Variations/genetics ; Craniofacial Abnormalities ; Phenotype
    Sprache Englisch
    Erscheinungsdatum 2023-06-27
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63326
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Quantitative Attribute Analyses with Ground Penetrating Radar for Infrastructure Assessments and Structural Health Monitoring.

    Morris, Isabel / Abdel-Jaber, Hiba / Glisic, Branko

    Sensors (Basel, Switzerland)

    2019  Band 19, Heft 7

    Abstract: In civil structures and infrastructure, assessing true performance and characterizing unusual structural behaviors can help avoid severe structural problems. To further refine or validate the conclusions from structural health monitoring (SHM) analyses, ... ...

    Abstract In civil structures and infrastructure, assessing true performance and characterizing unusual structural behaviors can help avoid severe structural problems. To further refine or validate the conclusions from structural health monitoring (SHM) analyses, nondestructive evaluation or techniques (NDE or NDT) can be applied in conjunction with SHM approaches. Ground penetrating radar (GPR) is an NDT that has been used to investigate defects and internal features in concrete structures, but is not commonly used to assess mechanical properties for the purposes of SHM. As a preliminary investigation of the effectiveness of attribute analysis techniques, a GPR survey was conducted on Streicker Bridge (a pedestrian bridge on Princeton University campus with embedded fiber-optic strain and temperature sensors). The bridge was constructed in two phases, where different curing conditions produced different material properties (compressive strength of 51 MPa and 59 MPa). Both standard processing techniques and attribute analysis techniques were employed to interpret GPR reflections in each phase of construction to identify construction elements and to compare the attribute signatures of different strength concretes.Though this study presents primarily relative differences, the sensitivity of these attributes to material property differences is confirmed. This validates SHM studies of the bridge and indicates the potential of the attribute analysis method for material characterization, especially as a compliment to other SHM and NDE techniques.
    Mesh-Begriff(e) Environmental Monitoring/methods ; Humans ; Radar
    Sprache Englisch
    Erscheinungsdatum 2019-04-05
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2052857-7
    ISSN 1424-8220 ; 1424-8220
    ISSN (online) 1424-8220
    ISSN 1424-8220
    DOI 10.3390/s19071637
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Features and outcomes of pediatric early T cell leukemia: King Hussein Cancer Center experience.

    Madanat, Faris / Jaber, Hiba / Azayyat, Ismaeel / Kamal, Nazmi / Barakat, Fareed / Al-Kayed, Khaldoun / Rihani, Rawad

    Hematology/oncology and stem cell therapy

    2016  Band 9, Heft 3, Seite(n) 126–128

    Mesh-Begriff(e) Adolescent ; Child ; Child, Preschool ; Disease-Free Survival ; Female ; Humans ; Jordan ; Leukemia, T-Cell/pathology ; Leukemia, T-Cell/therapy ; Male ; Survival Analysis ; Treatment Outcome
    Sprache Englisch
    Erscheinungsdatum 2016-09
    Erscheinungsland England
    Dokumenttyp Letter
    ZDB-ID 2651893-4
    ISSN 1658-3876
    ISSN 1658-3876
    DOI 10.1016/j.hemonc.2015.09.001
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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