Literature DB >> 8929954

Nijmegen breakage syndrome.

I van der Burgt1, K H Chrzanowska, D Smeets, C Weemaes.   

Abstract

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.

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Year:  1996        PMID： 8929954      PMCID： PMC1051843          DOI： 10.1136/jmg.33.2.153

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  23 in total

1.  A chromosomal breakage syndrome with profound immunodeficiency.

Authors:  M E Conley; N B Spinner; B S Emanuel; P C Nowell; W W Nichols
Journal:  Blood       Date:  1986-05       Impact factor: 22.113

2.  Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

Authors:  N G Jaspers; R D Taalman; C Baan
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

3.  Further delineation of the Nijmegen breakage syndrome.

Authors:  R D Taalman; T W Hustinx; C M Weemaes; E Seemanová; A Schmidt; E Passarge; J M Scheres
Journal:  Am J Med Genet       Date:  1989-03

Review 4.  A new chromosomal instability disorder confirmed by complementation studies.

Authors:  R D Wegner; M Metzger; F Hanefeld; N G Jaspers; C Baan; K Magdorf; J Kunze; K Sperling
Journal:  Clin Genet       Date:  1988-01       Impact factor: 4.438

5.  The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

Authors:  M Stumm; R A Gatti; A Reis; N Udar; K Chrzanowska; E Seemanova; K Sperling; R D Wegner
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

6.  Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses.

Authors:  R Abadir; N Hakami
Journal:  Br J Radiol       Date:  1983-05       Impact factor: 3.039

7.  High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia.

Authors:  A Aurias; B Dutrillaux; D Buriot; J Lejeune
Journal:  Mutat Res       Date:  1980-02       Impact factor: 2.433

8.  Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia.

Authors:  R M Hart; B F Kimler; R G Evans; C H Park
Journal:  Int J Radiat Oncol Biol Phys       Date:  1987-08       Impact factor: 7.038

9.  Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients.

Authors:  N G Jaspers; R A Gatti; C Baan; P C Linssen; D Bootsma
Journal:  Cytogenet Cell Genet       Date:  1988

10.  Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder.

Authors:  E Seemanová; E Passarge; D Beneskova; J Houstĕk; P Kasal; M Sevcíková
Journal:  Am J Med Genet       Date:  1985-04
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  43 in total

Review 1.  The mammalian Mre11-Rad50-nbs1 protein complex: integration of functions in the cellular DNA-damage response.

Authors:  J H Petrini
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

Review 2.  Immunodeficiency associated with DNA repair defects.

Authors:  A R Gennery; A J Cant; P A Jeggo
Journal:  Clin Exp Immunol       Date:  2000-07       Impact factor: 4.330

3.  Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.

Authors:  W Jongmans; M Vuillaume; K Chrzanowska; D Smeets; K Sperling; J Hall
Journal:  Mol Cell Biol       Date:  1997-09       Impact factor: 4.272

4.  A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

Authors:  R Tupler; G L Marseglia; M Stefanini; E Prosperi; L Chessa; T Nardo; A Marchi; P Maraschio
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

5.  Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

Authors:  Krzysztof Szczałuba; Hanna Mierzewska; Ewa Obersztyn; Jolanta Tryfon; Monika Bekiesińska-Figatowska; Elzbieta Szczepanik; Krystyna Chrzanowska; Ewa Bocian
Journal:  J Appl Genet       Date:  2012-05       Impact factor: 3.240

Review 6.  Importin KPNA2, NBS1, DNA repair and tumorigenesis.

Authors:  Shu-Chun Teng; Kou-Juey Wu; Shun-Fu Tseng; Chui-Wei Wong; Li Kao
Journal:  J Mol Histol       Date:  2006-06-03       Impact factor: 2.611

7.  SIRT1 regulates the function of the Nijmegen breakage syndrome protein.

Authors:  Zhigang Yuan; Xiaohong Zhang; Nilanjan Sengupta; William S Lane; Edward Seto
Journal:  Mol Cell       Date:  2007-07-06       Impact factor: 17.970

8.  Associations between NBS1 polymorphisms, haplotypes and smoking-related cancers.

Authors:  Sungshim L Park; Delara Bastani; Binh Y Goldstein; Shen-Chih Chang; Wendy Cozen; Lin Cai; Carlos Cordon-Cardo; Baoguo Ding; Sander Greenland; Na He; Shehnaz K Hussain; Qingwu Jiang; Yuan-Chin A Lee; Simin Liu; Ming-Lan Lu; Thomas M Mack; Jenny T Mao; Hal Morgenstern; Li-Na Mu; Sam S Oh; Allan Pantuck; Jeanette C Papp; Jianyu Rao; Victor E Reuter; Donald P Tashkin; Hua Wang; Nai-Chieh Y You; Shun-Zhang Yu; Jin-Kou Zhao; Zuo-Feng Zhang
Journal:  Carcinogenesis       Date:  2010-05-17       Impact factor: 4.944

9.  The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Authors:  K Saar; K H Chrzanowska; M Stumm; M Jung; G Nürnberg; T F Wienker; E Seemanová; R D Wegner; A Reis; K Sperling
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

10.  Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons.

Authors:  M Stumm; K Sperling; R D Wegner
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025
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