WordNet

reimbursement for goods damaged while in transit or in use
the quantity broken; "the total breakage was huge"
the act of breaking something; "the breakage was unavoidable" (同)break, breaking
of or relating to a chromosome; "chromosomal defect"

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A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

Thiffault I1,2, Saunders C3,4,5, Jenkins J6,7,8, Raje N9, Canty K10, Sharma M11, Grote L12,13,14, Welsh HI15,16,17, Farrow E18, Twist G19, Miller N20, Zwick D21, Zellmer L22, Kingsmore SF23,24,25,26, Safina NP27,28,29.
BMC medical genetics.BMC Med Genet.2015 May 7;16(1):31. [Epub ahead of print]
BACKGROUND: Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy.CASE PRESENTATION: We performed exome sequencing on a girl with a suspected ch
PMID 25948378

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Vetro A1, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O.
Human mutation.Hum Mutat.2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7.
The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be bor
PMID 25754594

Keszenman DJ1, Kolodiuk L2, Baulch JE3.
Mutagenesis.Mutagenesis.2015 May;30(3):451-8. doi: 10.1093/mutage/gev006. Epub 2015 Feb 22.
Cells exhibiting radiation-induced genomic instability exhibit varied spectra of genetic and chromosomal aberrations. Even so, oxidative stress remains a common theme in the initiation and/or perpetuation of this phenomenon. Isolated oxidatively modified bases, abasic sites, DNA single strand breaks
PMID 25711497