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173 results
  1. Ewing Sarcoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK66045
    ... with primary Ewing sarcoma, 64.2%).[ 41 ] Standard cytogenetics: Complex karyotype (defined as the presence of five or more independent chromosome abnormalities at diagnosis) and modal chromosome numbers lower than ...
  2. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... et al 2009 , Maserati et al 2009 ]. Novel cytogenetic abnormalities in the presence or ... 7, complex rearrangements of the del(20)(q), and unbalanced ...
  3. pdfSpring04.pdf 
    https://www.ncbi.nlm.nih.gov/books/NBK2592/bin/Spring04.pdf
    ... 2. Display sections, labeled buttons provide access to ... construction of complex queries. Diagnostic terms vary among data- bases; the ...
  4. Abbreviations Used in Data Elements - 2023AB Release 
    https://www.nlm.nih.gov/.../metathesaurus/release/abbreviations.html
    ... location of wild-type gene chromosome_involved_in_cytogenetic_abnormality chromosome involved in cytogenetic abnormality chromosome_mapped_to_disease chromosome mapped to disease ...
  5. Attribute Names - 2023AB 
    https://www.nlm.nih.gov/.../release/attribute_names.html
    ... location of wild-type gene chromosome_involved_in_cytogenetic_abnormality chromosome involved in cytogenetic abnormality chromosome_mapped_to_disease chromosome mapped to disease ...
  6. UMLS Metathesaurus - NCI (NCI Thesaurus) - Statistics 
    https://www.nlm.nih.gov/.../sourcereleasedocs/current/NCI/stats.html
    ... molecular abnormality of disease 12718 RO/may_be_cytogenetic_abnormality_of_disease has relationship other than synonymous, narrower, or broader/may be cytogenetic abnormality of disease 11955 RO/disease_may_have_cytogenetic_ ...
  7. UMLS Metathesaurus - NCI (NCI Thesaurus) - Metathesaurus Representation 
    https://www.nlm.nih.gov/.../current/NCI/metarepresentation.html
    ... concept_in_subset/subset_includes_concept R48 RT cytogenetic_abnormality_involves_chromosome/chromosome_involved_in_cytogenetic_abnormality R173 RT disease_excludes_abnormal_cell/is_not_ ...
  8. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... 11 ] For pediatric Burkitt lymphoma/leukemia patients, secondary cytogenetic abnormalities, other than MYC rearrangement, are associated with an inferior outcome,[ 12 , 13 ] and cytogenetic abnormalities involving gain of 7q or deletion of 13q ...
  9. Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1394
    ... BWS exists but no detectable chromosome 11p15.5 cytogenetic abnormalities, copy number variants, methylation abnormalities, or UPD has ... Offspring of a Proband with BWS and a Cytogenetic Abnormality View in own window Cytogenetic Abnormality Risk to ...
  10. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65842
    ... chromosome 1q is one of the most common cytogenetic abnormalities in Wilms tumor and is observed in approximately ... features and diagnostic evaluation of childhood kidney tumors.) Cytogenetic abnormalities such as rearrangement between 10q21 and 18p11.2 ...
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