ライフサイエンスコーパス: interstitial deletion

1 rent-and one case with a 6-megabase paternal interstitial deletion.

2 ic recombination, chromosome loss, and large interstitial deletion.

3 ient MBs in the context of translocations or interstitial deletions.

4 esting, and sometimes reveals males who have interstitial deletions.

5 gene is hemizygous in all VCFS patients with interstitial deletions.

6 Studied rearrangements include 5 interstitial deletions, 14 tandem duplications, 7 termin

7 terestingly, 25% of our patients had de novo interstitial deletions, 25% were found with derivative c

8 rearrangements were identified in 80% of the interstitial deletions, 46% of the tandem duplications a

9 -1 carries multiple rearrangements including interstitial deletions, a triplicated translocation junc

10 Six recurrent interstitial deletions affecting the region have been re

11 oint demonstrated that this resulted from an interstitial deletion and precisely pinpoints this delet

12 ranslocations, deletion of a chromosome arm, interstitial deletions and inversions, are often observe

13 Nonrandom interstitial deletions and monosomy of chromosomes 5, 7,

14 umerous structural rearrangements, including interstitial deletions and transfers of material to or f

15 rn, may have facilitated the accumulation of interstitial deletions, as in p53-deficient mice.

16 third macrorearrangment is a recurrent 8p23 interstitial deletion associated with heart defect.

17 The interstitial deletion at 1p32 involving SIL (SCL-interru

18 L1, Ttg-1, and Hox11, as well as a recurrent interstitial deletion at 1p32 involving SIL/SCL, are cit

19 tumour there was evidence for a homozygous, interstitial deletion at a locus within this region.

20 n each case the allele loss was caused by an interstitial deletion because heterozygosity at distal m

21 partial duplication of the gene, as well as interstitial deletions, can occur.

22 /Yp11.3, whereas 10 (34%) cases had a 320-kb interstitial deletion centromeric of CRLF2, resulting in

23 The YAC contig with the overlapping interstitial deletions constitutes the basis for the con

24 ulin heavy locus (IgH@) translocations or by interstitial deletions creating chimeric transcripts P2R

25 ld girl with mild dysmorphic features and an interstitial deletion del(4)(q22.1q23).

26 egories were delineated: terminal deletions, interstitial deletions, derivative chromosomes and compl

27 Terminal deletions, interstitial deletions, derivative chromosomes and compl

28 We found pure terminal deletions, interstitial deletions, derivative chromosomes, and more

29 d three as DGS) and one patient with a large interstitial deletion (diagnosed as VCFS).

30 S2-ERG, can be generated by the mechanism of interstitial deletion (Edel) about 39% to 60% of the tim

31 nonreciprocal translocations (three cases), interstitial deletions (five cases), or isochromosome (o

32 nowledge, these are the largest of all human interstitial deletions for which deletion junctions and

33 We could distinguish a simple interstitial deletion from a copy-number loss at an inve

34 mor lacks the normal L9 allele because of an interstitial deletion from chromosome 5.

35 copy number change was complex with multiple interstitial deletions/gains.

36 ial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated w

37 ize the breakpoints of a previously reported interstitial deletion in the KCNQ2 gene and show that on

38 SM190.2 and SD0302 cells contained an interstitial deletion in the long arm of chromosome 4, w

39 the relevance of this finding for recurrent interstitial deletions in cancer.

40 Hemizygous interstitial deletions in human chromosome 22q11 are ass

41 Through physical mapping of 3q2 interstitial deletions in several individuals with DWM,

42 ) from these YACs have been used to identify interstitial deletions in unrelated XLP patients.

43 ions, and translocations, and the absence of interstitial deletions, in karyotypic analysis.

44 Many of these were mutations that arose via interstitial deletions inclusive of Aprt or by intrageni

45 ies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome

46 1-33, and the latter usually results from an interstitial deletion involving chromosome 4q12 (FIP1L1-

47 ate was highest among patients with a clonal interstitial deletion involving chromosome 5q31.1 (83 pe

48 Cytogenetically visible interstitial deletions involving 11p13 were found in 13

49 Although the interstitial deletion limits vary among patients, del(5)

50 This suggests that an interstitial deletion occurred in this tumor which shoul

51 ISH), using 11q13 specific probes, has shown interstitial deletion of 11q13 sequences in the HeLa cel

52 Subsequent cytogenetic studies revealed an interstitial deletion of 17p11.2, which is associated wi

53 the patients (63-003 and 73-032) carried an interstitial deletion of 3.0 Mb overlapping the 43-004 d

54 The fusion arose from interstitial deletion of 5q33 (n = 11), balanced rearran

55 hough PWS is most often caused by a paternal interstitial deletion of a 6-Mb region of chromosome 15q

56 SS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and

57 li syndrome and Angelman syndrome is de novo interstitial deletion of chromosome 15q11-q13.

58 eukemia models that both commonly acquire an interstitial deletion of chromosome 2 during progression

59 a (APL) in association with a large (>20 Mb) interstitial deletion of chromosome 2 that includes PU.1

60 type of APL (including a low frequency of an interstitial deletion of chromosome 2) was similar to th

61 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wid

62 stent double abnormality: trisomy 15 plus an interstitial deletion of chromosome 4 that was confirmed

63 An interstitial deletion of chromosome 5, del(5q), is the m

64 ation of the 10q telomere region, one had an interstitial deletion of chromosome 9p, and the fourth h

65 MPRSS2-ERG fusion, and additionally identify interstitial deletion of genomic sequences between the t

66 mia (APL) and the frequent acquisition of an interstitial deletion of one copy of mouse chromosome 2

67 on of TMPRSS2 to ERG sequences together with interstitial deletion of sequences 5' to ERG (called '2+

68 cer-prone 5q-syndrome, which is caused by an interstitial deletion of the long arm of human chromosom

69 Recurrent interstitial deletions of 14q22-q23 have been associated

70 s at one or more of the loci, and partial or interstitial deletions of 6q were detected in 11 of thes

71 d bipolar disorder, is associated with small interstitial deletions of chromosome 22q11.

72 Complete loss or interstitial deletions of chromosome 5 are the most comm

73 Interstitial deletions of chromosome 5q are common in ac

74 We have investigated interstitial deletions of chromosome 8 in 70 colorectal

75 Conversely, interstitial deletions of the P1 locus were more frequen

76 ve disease, STAT5b-RARalpha resulted from an interstitial deletion on chromosome 17.

77 caused by an approximately 4-Mb heterozygous interstitial deletion on chromosome 17p11.2 in approxima

78 The unique interstitial deletion on chromosome 4q12 that leads to e

79 the PDGFRalpha (PDGFRA) gene generated by an interstitial deletion on chromosome 4q12.

80 ot all, myeloproliferative-HES patients have interstitial deletions on chromosome 4q12 that lead to f

81 Interstitial deletion or loss of chromosome 5 is frequen

82 Interstitial deletion or loss of chromosome 5, del(5q) o

83 E2a-Pbx1 proteins with interstitial deletion or single-point mutations in the H

84 ranslocations, deletion of a chromosome arm, interstitial deletions or inversions.

85 11q- and congenital heart defects that carry interstitial deletions overlapping the 7 Mb cardiac crit

86 suggest the MLL-LARG fusion resulted from an interstitial deletion rather than a balanced translocati

87 ion estimates revealed a majority of 1-20 Mb interstitial deletions suggesting mutagenic repair of do

88 rangements (GCRs), including translocations, interstitial deletions, terminal deletions with de novo

89 e-PDGFRalpha fusions result from an apparent interstitial deletion that links Rhe to exon 12 of PDGFR

90 how that SCT events can efficiently generate interstitial deletions that are useful for in vivo disse

91 e kinase on chromosome 4q12, derived from an interstitial deletion, that fuses the platelet-derived g

92 Also, increased interstitial deletion was observed in fibroblasts of p53

93 Several breakpoints and one interstitial deletion were identified in 8p12.

94 Interstitial deletions were characterized by using a pan

95 This case and two interstitial deletions were detectable by analysis of po

96 Three more families with interstitial deletions were found.

97 y detectable whole chromosomal loss or large interstitial deletion, whereas in another cell line dele

98 hromosomal translocations or a site-specific interstitial deletion whereby 5' regulatory elements of

99 gnificantly, chromosome loss/duplication and interstitial deletion, which were extremely rare events

100 Each contains an interstitial deletion with one breakpoint in 11p14.1 and