Nijmegen breakage syndrome , NBS (skrót)

One such mutation is associated with Nijmegen breakage syndrome (NBS), a radiation hyper-sensitive disease.

Individuals who were heterozygous for one of the Nijmegen breakage syndrome (NBS) founder mutations identified in Poland may be at increased risk of prostate cancer.

The clinical phenotype of LIG4 syndrome closely resembles that of Nijmegen breakage syndrome (NBS).

Mutations in the human Nbs1 subunit of the MRN complex have been implicated in the rare genetic disorder Nijmegen Breakage Syndrome.

Four (ataxia-telangiectasia, ataxia-telangiectasia-like disorder, Nijmegen breakage syndrome and Alzheimer's disease) are defective in genes involved in repairing DNA double-strand breaks.

These include Werner syndrome, Ataxia telangiectasia, Ataxia-telangiectasia like disorder, Bloom syndrome, Fanconi anemia, and Nijmegen breakage syndrome.

Nijmegen breakage syndrome (NBS) is a rare genetic disorder that has similar chromosomal instability to that seen in people with A-T, but the problems experienced are quite different.

Hebbring SJ, Fredriksson H, White KA, et al.: Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer.

These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome.

Dembowska-Baginska B, Perek D, Brozyna A, et al.: Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS).

Nijmegen breakage syndrome (NBS) Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder similar to A-T in manifesting increasing problems with coordination and oculomotor apraxia, often at a similar age to those having A-T.

Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.