Nijmegen breakage syndrome: Clinical characteristics and mutation analysis in eight unrelated Russian families

Journal of Pediatrics

Volumn 140, Issue 3, 2002, Pages 355-361

  Resnick, Igor B ^a,b,c   Kondratenko, Irina ^a,b,c   Togoev, Oleg ^a,b,c   Vasserman, Natalia ^a,b,c   Shagina, Irena ^a,b,c   Evgrafov, Oleg ^a,b,c   Tverskaya, Svetlana ^a,b,c   Cerosaletti, Karen M ^a,b,c   Gatti, Richard A ^a,b,c   Concannon, Patrick ^a,b,c  

^a Russian Children's Hospital   (Russian Federation)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE MYELOBLASTIC LEUKEMIA; ADOLESCENT; ARTICLE; BONE MARROW APLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA DAMAGE; FAMILY HISTORY; FANCONI ANEMIA; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NIJMEGEN BREAKAGE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RUSSIAN FEDERATION;

EID: 0036215992     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2002.122724     Document Type: Article

References (22)

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3. Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24
4. The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
5. Fine localization of the Nijmegen breakage syndrome gene to 8q21: Evidence for a common founder haplotype
6. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
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9. ATM phosphorylates p95/nbsl in an S-phase checkpoint pathway
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20. The inherited basis of human radiosensitivity
21. Evidence for at least eight Fanconi anemia genes
22. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway