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28 results

  1. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65842
    ... the only known cause of Sotos syndrome.[ 42 ] 9q22.3 microdeletion syndrome. This syndrome is characterized by ... most patients whose tumors have TRIM28 variants.[ 128 ] 9q22.3 microdeletion syndrome. Patients with 9q22.3 microdeletion ...
  2. Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK374260
    ... most patients whose tumors have TRIM28 variants.[ 77 ] 9q22.3 microdeletion syndrome. Patients with 9q22.3 microdeletion syndrome have an increased risk of ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >9q22.3 microdeletion</name><ghr-page >https://medlineplus.gov/ ... text-role >description</text-role><html ><html:p >9q22.3 microdeletion is a chromosomal change in which ...
  4. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... neoplastic transformation. Demonstration of allelic loss on chromosome 9q22 in both sporadic and familial BCCs suggested the ... BCNS pathogenic variant has been localized to chromosome 9q22.3-q31, with a maximum logarithm of the ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... medlineplus.gov/genetics/condition/9q223-microdeletion</url><title >9q22.3 microdeletion</title><other_names ><other_name >9q22 deletion syndrome</other_name><other_name >9q22.3 ...
  6. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65830
    ... 50K SNV array United States 2009 [ 29 ] FOXE1 9q22.33 PTC/FTC 60 families 300K SNV array ... controls.[ 30 ] Two loci had high statistical significance, 9q22.33 and 14q13.3, which are near the ...
  7. Nevoid Basal Cell Carcinoma Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1151
    ... A non-recurrent contiguous gene deletion at chromosome 9q22.3 encompassing a 352-kb critical region including ... for Wilms tumor. The clinical spectrum of the 9q22.3 deletion is variable, and the clinical findings ...
  8. Fructose-1,6-Bisphosphatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550349
    ... Locus Protein Locus-Specific Databases HGMD ClinVar FBP1 9q22 ​.32 Fructose-1,6-bisphosphatase 1 FBP1 database ... FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects ...
  9. Wilms Tumor Predisposition - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1294
    ... Wilms tumor. A non- recurrent deletion at chromosome 9q22.3 encompassing a 352-kb critical region including ... M, Heloury Y. Wilms tumor associated with the 9q22.3 microdeletion syndrome: 2 new case reports and ...
  10. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... Variants Database - TGFB3 TGFB3 database TGFB3 TGFB3 TGFBR1 9q22 ​.33 TGF-beta receptor type-1 TGFBR1 database ... Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a ...
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