Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Genetic Testing

• Publication date

  2006-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1089/gte.2006.10.24PMID 16544999
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Nijmegen breakage syndrome diagnosed as Fanconi anaemia

  2005cited by this paper
• ATM Activation by DNA Double-Strand Breaks Through the Mre11-Rad50-Nbs1 Complex

  2005cited by this paper
• The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

  2004cited by this paper
• Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

  2004cited by this paper
• NBS1 Is a Prostate Cancer Susceptibility Gene

  2004cited by this paper
• Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.

  2004cited by this paper
• Initiating cellular stress responses.

  2004cited by this paper
• Increased cancer risk of heterozygotes with NBS1 germline mutations in poland

  2004cited by this paper
• Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome

  2004cited by this paper
• Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.

  2004cited by this paper
• NBS1 and its functional role in the DNA damage response.

  2004cited by this paper
• Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome.

  2003cited by this paper
• Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin

  2003cited by this paper
• 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls

  2003cited by this paper
• Germline 657del5 mutation in the NBS1 gene in breast cancer patients

  2003cited by this paper
• Chromosome instability and nibrin protein variants in NBS heterozygotes

  2003cited by this paper
• Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.

  2003cited by this paper
• ATM and related protein kinases: safeguarding genome integrity

  2003cited by this paper
• Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability

  2002cited by this paper
• Interaction of FANCD2 and NBS1 in the DNA damage response

  2002cited by this paper
• Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.

  2002cited by this paper
• Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.

  2002cited by this paper
• Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome

  2002cited by this paper
• Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways.

  2002cited by this paper
• [Nijmegen breakage syndrome].

  2001cited by this paper
• An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

  2001cited by this paper
• Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

  2001cited by this paper
• A novel mutation and novel features in Nijmegen breakage syndrome.

  2001cited by this paper
• Cell cycle checkpoint signaling through the ATM and ATR kinases.

  2001cited by this paper
• Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

  2000cited by this paper
• Nijmegen breakage syndrome

  2000cited by this paper
• Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.

  1998cited by this paper
• The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.

  1998cited by this paper
• Positional cloning of the gene for Nijmegen breakage syndrome

  1998cited by this paper
• A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

  1997cited by this paper
• The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

  1997cited by this paper
• Nijmegen breakage syndrome.

  1996cited by this paper
• A new chromosome instability disorder

  1986cited by this paper

• Prenatal Microcephaly and Hydrocephalus and Normal Heart Anatomy, Postnatal Diagnosis of Nijmegen Syndrome - Case Report

  2018cites this paper
• Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas

  2008cites this paper