147 related articles for article (PubMed ID: 3277755)
1. A new chromosomal instability disorder confirmed by complementation studies.
Wegner RD; Metzger M; Hanefeld F; Jaspers NG; Baan C; Magdorf K; Kunze J; Sperling K
Clin Genet; 1988 Jan; 33(1):20-32. PubMed ID: 3277755
[TBL] [Abstract][Full Text] [Related]
2. Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
Chrzanowska KH; Kleijer WJ; Krajewska-Walasek M; Białecka M; Gutkowska A; Goryluk-Kozakiewicz B; Michałkiewicz J; Stachowski J; Gregorek H; Lysón-Wojciechowska G
Am J Med Genet; 1995 Jul; 57(3):462-71. PubMed ID: 7545870
[TBL] [Abstract][Full Text] [Related]
3. [Microcephaly with chromosomal instability and immunodeficiency--Nijmegen syndrome].
Chrzanowska KH
Pediatr Pol; 1996 Mar; 71(3):223-34. PubMed ID: 8966094
[TBL] [Abstract][Full Text] [Related]
4. Further delineation of the Nijmegen breakage syndrome.
Taalman RD; Hustinx TW; Weemaes CM; Seemanová E; Schmidt A; Passarge E; Scheres JM
Am J Med Genet; 1989 Mar; 32(3):425-31. PubMed ID: 2786340
[TBL] [Abstract][Full Text] [Related]
5. Nijmegen breakage syndrome.
van der Burgt I; Chrzanowska KH; Smeets D; Weemaes C
J Med Genet; 1996 Feb; 33(2):153-6. PubMed ID: 8929954
[TBL] [Abstract][Full Text] [Related]
6. Variants of Nijmegen breakage syndrome and ataxia telangiectasia.
Weemaes CM; Smeets DF; Horstink M; Haraldsson A; Bakkeren JA
Immunodeficiency; 1993; 4(1-4):109-11. PubMed ID: 7513225
[TBL] [Abstract][Full Text] [Related]
7. Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.
Di Rocco M; Arslanian A; Romanengo M; Dagna-Bricarelli F; Borrone C
J Med Genet; 1999 Feb; 36(2):159-60. PubMed ID: 10051019
[TBL] [Abstract][Full Text] [Related]
8. Chromosomal breakage syndromes.
Carney JP
Curr Opin Immunol; 1999 Aug; 11(4):443-7. PubMed ID: 10448147
[TBL] [Abstract][Full Text] [Related]
9. Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome.
Green AJ; Yates JR; Taylor AM; Biggs P; McGuire GM; McConville CM; Billing CJ; Barnes ND
Arch Dis Child; 1995 Nov; 73(5):431-4. PubMed ID: 8554361
[TBL] [Abstract][Full Text] [Related]
10. Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
Seeman P; Gebertová K; Paderová K; Sperling K; Seemanová E
Pediatr Neurol; 2004 Mar; 30(3):195-200. PubMed ID: 15033202
[TBL] [Abstract][Full Text] [Related]
11. Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child.
Barbi G; Scheres JM; Schindler D; Taalman RD; Rodens K; Mehnert K; Müller M; Seyschab H
Am J Med Genet; 1991 Jul; 40(1):44-50. PubMed ID: 1887849
[TBL] [Abstract][Full Text] [Related]
12. Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.
Maserati E; Ottolini A; Veggiotti P; Lanzi G; Pasquali F
Clin Genet; 1988 Nov; 34(5):283-7. PubMed ID: 3228996
[TBL] [Abstract][Full Text] [Related]
13. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.
Jaspers NG; Taalman RD; Baan C
Am J Hum Genet; 1988 Jan; 42(1):66-73. PubMed ID: 3337113
[TBL] [Abstract][Full Text] [Related]
14. [Immunodeficiency and chromosome instability].
Weemaes CM; Bakkeren JA; Hustinx TW; van Munster PJ; Scheres JM
Tijdschr Kindergeneeskd; 1988 Oct; 56(5):209-12. PubMed ID: 3206518
[TBL] [Abstract][Full Text] [Related]
15. Positional cloning of the gene for Nijmegen breakage syndrome.
Matsuura S; Tauchi H; Nakamura A; Kondo N; Sakamoto S; Endo S; Smeets D; Solder B; Belohradsky BH; Der Kaloustian VM; Oshimura M; Isomura M; Nakamura Y; Komatsu K
Nat Genet; 1998 Jun; 19(2):179-81. PubMed ID: 9620777
[TBL] [Abstract][Full Text] [Related]
16. ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.
Curry CJ; O'Lague P; Tsai J; Hutchison HT; Jaspers NG; Wara D; Gatti RA
Am J Hum Genet; 1989 Aug; 45(2):270-5. PubMed ID: 2491181
[TBL] [Abstract][Full Text] [Related]
17. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability.
Seemanová E
Mutat Res; 1990 May; 238(3):321-4. PubMed ID: 2342514
[TBL] [Abstract][Full Text] [Related]
18. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.
Digweed M; Sperling K
DNA Repair (Amst); 2004; 3(8-9):1207-17. PubMed ID: 15279809
[TBL] [Abstract][Full Text] [Related]
19. Nijmegen Breakage syndrome: a progress report.
Weemaes CM; Smeets DF; van der Burgt CJ
Int J Radiat Biol; 1994 Dec; 66(6 Suppl):S185-8. PubMed ID: 7836846
[TBL] [Abstract][Full Text] [Related]
20. [Clinico-genetic diagnosis of ataxia telangiectatica (Louis-Bar syndrome)].
Fuhrmann E; Pfeiffer L; Zschenderlein R; Leonhardt T; Melster U; Kölmel HW
Nervenarzt; 1993 Feb; 64(2):140-2. PubMed ID: 8450897
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
