Nijmegen breakage syndrome in Slovakia;Nijmegen breakage syndrom na Slovensku

Casopis Lekaru Ceskych

Volumn 143, Issue 8, 2004, Pages 538-542

  Seemanová, Eva ^a   Pohanka, V ^b   Seeman, P ^a   Misovicova N ^c   Behunova J ^d   Kvasnicova M ^e   Dlholucky S ^e   Valachova A ^f   Cisarik, F ^g   Veghova E ^h   Varon, R ⁱ   Sperling, K ⁱ   Brdička, Radim ^j  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Srobárův Ústav ^*  (Slovakia)

^c Klinika Deti a Dorastu JLF UK   (Slovakia)

^d P J AFÁRIK UNIVERSITY   (Slovakia)

^e Nemocnice s Poliklinikou   (Slovakia)

^f Nemocnice s Poliklinikou   (Slovakia)

^g Nemocnice s Poliklinikou   (Slovakia)

^h Fakultnej Nemocnice S Poliklinikou   (Slovakia)

ⁱ HUMBOLDT UNIVERSITY   (Germany)

^j INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

more..

Author keywords

657del5 and R215W mutations; Frequency of NBS carriers in Slovak population; High proportion of endogamic marriages in Slovakia; NBS1 gene; Nijmegen breakage syndrome (NBS); Prevalence of NBS homozygotes

Indexed keywords

AGE AT DIAGNOSIS; ALKAPTONURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8Q; CLINICAL ARTICLE; CLINICAL GENETICS; CZECH REPUBLIC; CZECHOSLOVAKIA; DIAGNOSTIC ERROR; DNA REPAIR; DNA REPAIR DISORDER; FAMILY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOLOGY; IONIZATION; IONIZING RADIATION; MALE; MATERNITY WARD; MICROCEPHALY; MOTIVATION; NBS1 GENE; NEUROLOGY; NEWBORN; NIJMEGEN BREAKAGE SYNDROME; ONSET AGE; PEDIATRICIAN; POLAND; PRENATAL MORTALITY; PREVALENCE; RADIOSENSITIZATION; RARE DISEASE; RETICULOENDOTHELIAL NEOPLASM; SECOND CANCER; SLOVAKIA; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CELL CYCLE PROTEINS; CHILD; CZECH REPUBLIC; HUMANS; INFANT, NEWBORN; MICROCEPHALY; MUTATION; NEOPLASMS; NUCLEAR PROTEINS; SLOVAKIA; SYNDROME;

EID: 4243096948     PISSN: 00087335     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Weemaes, C. M. R, Hustinx, T. W. J., Scheres, J. M. J. C. et al.: A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr. Scand., 1981, 70, s. 557-564.
2. Seemanová, E., Passarge, E., Benešová, D. et al.: Familial microcephaly with normal intelligence, immunodeficiency and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am. J. Med. Genet., 1985, 20, s. 639-648.
3. Chrzanovska, K. H., Kleijer, W. J., Krajewska-Walasek, M. et al.: Eleven Polish patients with microcephaly, immunodeficiency and chromosomal instability: the Nijmegen breakage syndrome. Am. J. Med. Genet., 1995, 57, s. 462-471.
4. Varon, R., Vissinga, C., Platzer, M. et al.: Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell, 1998, 93, s. 467-476.
5. Taalmann, R. D. F. M, Hustinx, T. W. J., Weemaes, C. M. R. et al.: Further Delineation of the Nijmegen breakage syndrome. Amer. J. Med. Genet., 1989, 32, s. 425-431.
6. Seyschab, H., Schindler, D., Friedl, R. et al.: Simultaneous measurement, usiong flow cytometry of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes. Europ. J. Pediatr., 1992, 151, s. 756-760.
7. Carney, J. P., Maser, R. S., Olivares, H. et al.: The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double strand break repair to the cellular DNA damage response. Cell, 1998, 93, s. 477-486.
8. Varon, R., Seemanová, E., Chrzanowska, K. et al.: Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5 in three Slavic populations. Eur. J. Hum. Genet., 2000, 8, s. 900-902.
9. Seeman, P. Gebertová, K., Paděrová, K. et al.: Nijmegen Breakage Syndrome in 13% of age-matches Czech Children with primary Microcephaly. Pediatr. Neurol., 2004, 30, s. 300-335.
10. Drábek, J., Hajdúch, M., Gojová, L. et al.: Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. Cancer Genet. Cytogenet., 2002, 138, s. 157-159.
11. Matougek, V., Seemanová, E.: Účinky pokrevního přuzenství rodičů na potomstvo - vyšetřování genetické zátě že ve východoslovenských isolátech. Praha, Academia, 1973, s. 35-41.
12. Seemanová, E., Matoušek, V., Kubíčková , Z.: A contribution to the estimate of the genetic load in human populations. Mutation in population. Proceedings of the Symposium on Mutation Process. Praha, Academia, 1965, s. 139-143.
13. Müller, C. R., Fregin, A., Sršeň, S. et al.: Allelic heterogeneity of alkaptonuria in Central Europe. Europ. J. Hum. Genet., 1999, 7, s. 645-651.