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Items: 1 to 20 of 86

1.

Rare hereditary diseases with defects in DNA-repair.

Knoch J, Kamenisch Y, Kubisch C, Berneburg M.

Eur J Dermatol. 2012 Jul-Aug;22(4):443-55. doi: 10.1684/ejd.2012.1654. Review.

PMID:
22436139
2.

[Chromosome instability syndromes].

Tomaszewska A, Srebniak M, Gnyś A.

Pol Merkur Lekarski. 2006 May;20(119):577-81. Review. Polish.

PMID:
16875167
3.

[Pigmentary lesions in patients with increased DNA damage due to defective DNA repair].

Krieger L, Berneburg M.

Ann Dermatol Venereol. 2012 Nov;139 Suppl 3:S78-82. doi: 10.1016/S0151-9638(12)70115-1. Review. French.

PMID:
23260522
4.

[Ocular manifestations in hereditary diseases with defects in DNA repair].

Woźniak K, Kuc D, Błasiak J, Kurowska AK, Szaflik J, Szaflik JP.

Klin Oczna. 2014;116(2):142-5. Review. Polish.

PMID:
25345296
5.

Pigmentary lesions in patients with increased DNA damage due to defective DNA repair.

Krieger L, Berneburg M.

Ann Dermatol Venereol. 2012 Dec;139 Suppl 4:S130-4. doi: 10.1016/S0151-9638(12)70124-2. Review.

PMID:
23522627
6.

Mechanisms of disease: DNA repair defects and neurological disease.

Subba Rao K.

Nat Clin Pract Neurol. 2007 Mar;3(3):162-72. Review.

PMID:
17342192
7.

Recent advances in chromosome breakage syndromes and their diagnosis.

Mathur R, Chowdhury MR, Singh G.

Indian Pediatr. 2000 Jun;37(6):615-25. Review.

PMID:
10869141
8.

[DNA helicases and human diseases].

Uhring M, Poterszman A.

Med Sci (Paris). 2006 Dec;22(12):1087-94. Review. French.

9.

Human genetic instability syndromes: single gene defects with increased risk of cancer.

Digweed M.

Toxicol Lett. 1993 Apr;67(1-3):259-81. Review.

PMID:
8451764
10.

Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis.

Seif AE.

Cancer Genet. 2011 May;204(5):227-44. doi: 10.1016/j.cancergen.2011.04.005. Review.

PMID:
21665176
11.

Inherited defects in DNA repair and susceptibility to DNA-damaging agents.

Hansson J.

Toxicol Lett. 1992 Dec;64-65 Spec No:141-8. Review.

PMID:
1471167
12.

Lessons learned from DNA repair defective syndromes.

Thoms KM, Kuschal C, Emmert S.

Exp Dermatol. 2007 Jun;16(6):532-44. Review.

13.

DNA repair defects and chromosome instability disorders.

Polani PE.

Ciba Found Symp. 1979 Jun 27-29;(66):81-131.

PMID:
258177
14.
15.

Disorders of DNA replication and repair.

Auerbach AD, Verlander PC.

Curr Opin Pediatr. 1997 Dec;9(6):600-16. Review.

PMID:
9425594
16.

DNA repair mechanisms protect our genome from carcinogenesis.

Moraes MC, Neto JB, Menck CF.

Front Biosci (Landmark Ed). 2012 Jan 1;17:1362-88. Review.

PMID:
22201809
17.

Human DNA repair defects.

Arlett CF.

J Inherit Metab Dis. 1986;9 Suppl 1:69-84. Review.

PMID:
3097418
18.

Disorders of nucleotide excision repair.

Rapin I.

Handb Clin Neurol. 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. Review.

PMID:
23622385
19.

Ocular manifestations in the inherited DNA repair disorders.

Dollfus H, Porto F, Caussade P, Speeg-Schatz C, Sahel J, Grosshans E, Flament J, Sarasin A.

Surv Ophthalmol. 2003 Jan-Feb;48(1):107-22. Review.

PMID:
12559331
20.

Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect.

Tuteja N, Tuteja R.

Crit Rev Biochem Mol Biol. 2001;36(3):261-90. Review.

PMID:
11450971
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