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Items: 1 to 20 of 114

1.

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 1;137A(3):283-7.

PMID:
16088910
2.

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P.

Mol Cell. 2001 Dec;8(6):1175-85.

3.

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 16;107(7):3024-9. doi: 10.1073/pnas.0914865107. Epub 2010 Feb 1.

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. doi: 10.1002/humu.22461. Epub 2013 Nov 8.

5.

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;17(1):84.

6.

Genetic heterogeneity for a Nijmegen breakage-like syndrome.

Maraschio P, Spadoni E, Tanzarella C, Antoccia A, Di Masi A, Maghnie M, Varon R, Demuth I, Tiepolo L, Danesino C.

Clin Genet. 2003 Apr;63(4):283-90.

PMID:
12702161
7.

Nijmegen breakage syndrome (NBS).

Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M.

Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Review.

8.

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 15;2:5.

9.

Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts.

Kraakman-van der Zwet M, Overkamp WJ, Friedl AA, Klein B, Verhaegh GW, Jaspers NG, Midro AT, Eckardt-Schupp F, Lohman PH, Zdzienicka MZ.

Mutat Res. 1999 May 14;434(1):17-27.

PMID:
10377945
10.

A novel mutation and novel features in Nijmegen breakage syndrome.

Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L.

J Med Genet. 2001 Feb;38(2):113-7. No abstract available.

11.

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stöckl L, Spadoni E, Krüger LA, di Masi A, Sperling K, Digweed M, Maraschio P.

Hum Mol Genet. 2006 Mar 1;15(5):679-89. Epub 2006 Jan 13.

PMID:
16415040
12.

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

Gennery AR, Slatter MA, Bhattacharya A, Barge D, Haigh S, O'Driscoll M, Coleman R, Abinun M, Flood TJ, Cant AJ, Jeggo PA.

Clin Immunol. 2004 Nov;113(2):214-9.

PMID:
15451479
13.

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. doi: 10.1016/j.clim.2015.12.016. Epub 2016 Jan 4.

PMID:
26762768
14.

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.

Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J.

Clin Genet. 2000 May;57(5):384-7.

PMID:
10852373
15.

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 15;13(20):2369-76. Epub 2004 Aug 27.

PMID:
15333585
16.

Ligase IV syndrome.

Chistiakov DA.

Adv Exp Med Biol. 2010;685:175-85. Review.

PMID:
20687505
17.

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay JP, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A.

Eur J Med Genet. 2007 May-Jun;50(3):176-87. Epub 2007 Feb 21.

PMID:
17395558
18.

Ligase IV syndrome.

Chistiakov DA, Voronova NV, Chistiakov AP.

Eur J Med Genet. 2009 Nov-Dec;52(6):373-8. doi: 10.1016/j.ejmg.2009.05.009. Epub 2009 May 23. Review.

PMID:
19467349
19.

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.

PMID:
15033202
20.

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. doi: 10.1002/pbc.22031.

PMID:
19418549

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