Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
15 results
  1. Esophageal Atresia / Tracheoesophageal Fistula Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5192
    ... 8523220 ] Walsh LE, Vance GH, Weaver DD. Distal 13q deletion syndrome and the VACTERL association: case report, literature review, ...
  2. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... Dave BJ, et al.: An increased frequency of 13q deletions detected by fluorescence in situ hybridization and its ...
  3. Late Effects of Treatment for Childhood Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65832
    ... most pronounced declines were observed in patients with 13q deletion.[ 80 ] In contrast, a study of long-term ... Wilms tumor who develop chronic renal failure have syndromes accompanying WT1 mutations or deletions that predispose to renal disease. Data from the ...
  4. Chromosome 13: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/chromosome/13
    ... impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55(6):478-82. ... P, Vapalahti M. Retinoblastoma associated with chromosomal 13q14 deletion mosaicism. ... in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 1998 Jan;18(1):84-7. ...
  5. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... not present with clear features of Loeys-Dietz syndrome. Smaller deletions/duplications that lead to in frame events are ... H, Brenner RE, Borck G. 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. Am J Med Genet ...
  6. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... et al.: High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 26 (6): 513-9, 2005. [ PubMed : ...
  7. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... applicable; XL = X-linked 1. Pearson marrow-pancreas syndrome is caused by mtDNA contiguous gene deletions/duplications (OMIM 557000 ). 2. Venet et al [2017] ...
  8. Hidrotic Ectodermal Dysplasia 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1200
    ... expression of the downstream GJB2 , presumably due to deletion of a cis -regulatory element. Inheritance is autosomal recessive . Keratitis-ichthyosis-deafness (KID) syndrome (OMIM 148210 ). Jan et al [2004] reported a ...
  9. Background - Fluorescence In Situ Hybridization (FISH) or Other In Situ Hybridization (ISH) Testing of Uterine Cervical ... 
    https://www.ncbi.nlm.nih.gov/books/NBK284805
    ... diagnostic changes in hematological malignancies (such as a deletion in the long arm of chromosome 5 in myelodysplastic syndrome), to look for gene amplification (e.g., HER2/ ...
  10. NLM Digital Collections - The Gene Map of Homo sapiens: Status and Prospectus 
    Publication: Cold Spring Harbor Laboratory. Press, 1986
    resource.nlm.nih.gov/101584632X98
    ... genes, each for a separate component of the syndrome, can usually be rejected as naive. Recent ob- servations of deletions that can be seen in high-resolu- tion ...
previous · 1 · 2 · next