127 related articles for article (PubMed ID: 19418549)
1. A novel mutation in a family with DNA ligase IV deficiency syndrome.
Unal S; Cerosaletti K; Uckan-Cetinkaya D; Cetin M; Gumruk F
Pediatr Blood Cancer; 2009 Sep; 53(3):482-4. PubMed ID: 19418549
[TBL] [Abstract][Full Text] [Related]
2. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
Gruhn B; Seidel J; Zintl F; Varon R; Tönnies H; Neitzel H; Bechtold A; Hoehn H; Schindler D
Orphanet J Rare Dis; 2007 Jan; 2():5. PubMed ID: 17224058
[TBL] [Abstract][Full Text] [Related]
3. Ligase IV syndrome.
Chistiakov DA
Adv Exp Med Biol; 2010; 685():175-85. PubMed ID: 20687505
[TBL] [Abstract][Full Text] [Related]
4. Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE; Bicknell LS; Yigit G; Duker AL; van Kogelenberg M; Haghayegh S; Wieczorek D; Kayserili H; Albert MH; Wise CA; Brandon J; Kleefstra T; Warris A; van der Flier M; Bamforth JS; Doonanco K; Adès L; Ma A; Field M; Johnson D; Shackley F; Firth H; Woods CG; Nürnberg P; Gatti RA; Hurles M; Bober MB; Wollnik B; Jackson AP
Hum Mutat; 2014 Jan; 35(1):76-85. PubMed ID: 24123394
[TBL] [Abstract][Full Text] [Related]
5. Ligase IV syndrome.
Chistiakov DA; Voronova NV; Chistiakov AP
Eur J Med Genet; 2009; 52(6):373-8. PubMed ID: 19467349
[TBL] [Abstract][Full Text] [Related]
6. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
Tamura S; Higuchi K; Tamaki M; Inoue C; Awazawa R; Mitsuki N; Nakazawa Y; Mishima H; Takahashi K; Kondo O; Imai K; Morio T; Ohara O; Ogi T; Furukawa F; Inoue M; Yoshiura K; Kanazawa N
Clin Immunol; 2015 Oct; 160(2):255-60. PubMed ID: 26172957
[TBL] [Abstract][Full Text] [Related]
7. Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
IJspeert H; Warris A; van der Flier M; Reisli I; Keles S; Chishimba S; van Dongen JJ; van Gent DC; van der Burg M
Hum Mutat; 2013 Dec; 34(12):1611-4. PubMed ID: 24027040
[TBL] [Abstract][Full Text] [Related]
8. Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
Schober S; Schilbach K; Doering M; Cabanillas Stanchi KM; Holzer U; Kasteleiner P; Schittenhelm J; Schaefer JF; Mueller I; Lang P; Handgretinger R
BMC Pediatr; 2019 Oct; 19(1):346. PubMed ID: 31604460
[TBL] [Abstract][Full Text] [Related]
9. DNA repair is limiting for haematopoietic stem cells during ageing.
Nijnik A; Woodbine L; Marchetti C; Dawson S; Lambe T; Liu C; Rodrigues NP; Crockford TL; Cabuy E; Vindigni A; Enver T; Bell JI; Slijepcevic P; Goodnow CC; Jeggo PA; Cornall RJ
Nature; 2007 Jun; 447(7145):686-90. PubMed ID: 17554302
[TBL] [Abstract][Full Text] [Related]
10. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
Buck D; Moshous D; de Chasseval R; Ma Y; le Deist F; Cavazzana-Calvo M; Fischer A; Casanova JL; Lieber MR; de Villartay JP
Eur J Immunol; 2006 Jan; 36(1):224-35. PubMed ID: 16358361
[TBL] [Abstract][Full Text] [Related]
11. Molecular and immunological characterization of DNA ligase IV deficiency.
Jiang J; Tang W; An Y; Tang M; Wu J; Qin T; Zhao X
Clin Immunol; 2016 Feb; 163():75-83. PubMed ID: 26762768
[TBL] [Abstract][Full Text] [Related]
12. Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
Rucci F; Notarangelo LD; Fazeli A; Patrizi L; Hickernell T; Paganini T; Coakley KM; Detre C; Keszei M; Walter JE; Feldman L; Cheng HL; Poliani PL; Wang JH; Balter BB; Recher M; Andersson EM; Zha S; Giliani S; Terhorst C; Alt FW; Yan CT
Proc Natl Acad Sci U S A; 2010 Feb; 107(7):3024-9. PubMed ID: 20133615
[TBL] [Abstract][Full Text] [Related]
13. DNA ligase IV syndrome; a review.
Altmann T; Gennery AR
Orphanet J Rare Dis; 2016 Oct; 11(1):137. PubMed ID: 27717373
[TBL] [Abstract][Full Text] [Related]
14. Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Sharapova SO; Chang EY; Guryanova IE; Proleskovskaya IV; Fedorova AS; Rutskaya EA; Aleinikova OV
Clin Immunol; 2016 Feb; 163():108-10. PubMed ID: 26774591
[TBL] [Abstract][Full Text] [Related]
15. A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Ben-Omran TI; Cerosaletti K; Concannon P; Weitzman S; Nezarati MM
Am J Med Genet A; 2005 Sep; 137A(3):283-7. PubMed ID: 16088910
[TBL] [Abstract][Full Text] [Related]
16. Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
Girard PM; Kysela B; Härer CJ; Doherty AJ; Jeggo PA
Hum Mol Genet; 2004 Oct; 13(20):2369-76. PubMed ID: 15333585
[TBL] [Abstract][Full Text] [Related]
17. Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
Fadda A; Butt F; Tomei S; Deola S; Lo B; Robay A; Al-Shakaki A; Al-Hajri N; Crystal R; Kambouris M; Wang E; Marincola FM; Fakhro KA; Cugno C
BMC Med Genet; 2016 Nov; 17(1):84. PubMed ID: 27855655
[TBL] [Abstract][Full Text] [Related]
18. CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair.
O'Driscoll M; Jeggo PA
Bone Marrow Transplant; 2008 Jun; 41(11):983-9. PubMed ID: 18278071
[TBL] [Abstract][Full Text] [Related]
19. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
van der Burg M; van Veelen LR; Verkaik NS; Wiegant WW; Hartwig NG; Barendregt BH; Brugmans L; Raams A; Jaspers NG; Zdzienicka MZ; van Dongen JJ; van Gent DC
J Clin Invest; 2006 Jan; 116(1):137-45. PubMed ID: 16357942
[TBL] [Abstract][Full Text] [Related]
20. DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report.
Huang M; Dong G; Lu X; Xiao F; Zhou Q; Zhang S
BMC Pediatr; 2022 Oct; 22(1):588. PubMed ID: 36221079
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
