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

14 results

  1. Nijmegen Breakage Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1176
    ... may contain more recent information. — ED. Table A. Nijmegen Breakage Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
  4. Bloom Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1398
    ... Progressive cerebellar degeneration No telangiectasias or immunodeficiency NBN Nijmegen breakage syndrome AR Small stature Evidence of excessive genomic instability ...
  5. DDX11-Related Cohesinopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541972
    ... malformations Corneal opacities Not assoc w/SNHL NBN Nijmegen breakage syndrome AR Microcephaly, progressive Early growth deficiency (more pronounced ... live 20 November 2018 (ea, dc) Original submission ... Chitayat D. Warsaw breakage syndrome: further clinical and genetic delineation. Am J Med ...
  6. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... Stringham HM, et al.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder ...
  7. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... Clinodactyly Dental anomalies Global DD Microcephaly Synophrys NBN Nijmegen breakage syndrome AR Chromosome instability Microcephaly Sloping forehead PCNT Microcephalic ...
  8. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... cancers that occur at an early age NBN Nijmegen breakage syndrome AR May manifest ↑ chromosome breakage w/MMC Short ...
  9. Genetics of Hereditary Hematologic Malignancies (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK606139
    ... and nonmelanoma skin cancers Adolescents and young adults Nijmegen breakage syndrome NBS1 AR NHL, ALL Congenital malformations Presents more ...
  10. Microcephalic Osteodysplastic Primordial Dwarfism Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575926
    ... recognized retrospectively, assoc w/ syndromic diagnoses such as Nijmegen breakage syndrome , Bloom syndrome , & Seckel syndrome (see Note following table). ...
previous · 1 · 2 · next