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18 results
  1. 1q21.1 Recurrent Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK52787
    ... CMA platforms did not include coverage of the 1q21.1 region and thus may not have detected this deletion . Targeted deletion analysis. FISH analysis, quantitative PCR (qPCR), multiplex ligation-dependent probe amplification (MLPA) or other targeted quantitative methods may be ...
  2. Thrombocytopenia Absent Radius Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK23758
    ... minimally deleted 200-kb region at chromosome band 1q21.1) in trans with a heterozygous RBM8 A ... 200-kb minimally deleted region at chromosome band 1q21.1, and one R8BM8A hypomorphic allele. About 50%- ...
  3. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65830
    ... renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele ... 6 MNG 3 PTC 49 NMTC fPTC/PRN 1q21 PTC with PRN 1 kindred Microsatellite linkage United ...
  4. SALL4-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1373
    ... deleted region of 200 kb at chromosome band 1q21.1 (including RBM8A) , which is distinct from the region involved in the 1q21.1 deletion / duplication syndrome [ Klopocki et al 2007 , ...
  5. 16p11.2 Recurrent Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11167
    ... L, Moeschler J, Rosenfeld J. GeneReviews®. 1993 Review 1q21.1 Recurrent Microdeletion [GeneReviews ® . 1993] Review 1q21.1 Recurrent Microdeletion Haldeman-Englert CR, Jewett T. ...
  6. Lipoid Proteinosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK338540
    ... Locus Protein Locus-Specific Databases HGMD ClinVar ECM1 1q21 ​.2 Extracellular matrix protein 1 ECM1 database ECM1 ... Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular ...
  7. 15q13.3 Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK50780
    ... 2015 Dec 9; 35(49):16282-94. Review 1q21.1 Recurrent Microdeletion [GeneReviews ® . 1993] Review 1q21.1 Recurrent Microdeletion Haldeman-Englert CR, Jewett T. ...
  8. Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1111
    ... minimally deleted 200-kb region at chromosome band 1q21.1) in trans with a heterozygous RBM8A hypomorphic ...
  9. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... long arm of chromosome 7 [del(7)(q21.1q21.3)] in one child [ Courtens et al 2005 ] ...
  10. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... PEX10 Gene Database PEX10 database PEX10 PEX10 PEX11B 1q21 ​.1 Peroxisomal membrane protein 11B PEX11B PEX11B PEX12 ...
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