ライフサイエンスコーパス: velocardiofacial

1 t in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes

2 Velocardiofacial and DiGeorge syndromes, also known as 2

3 H as having a micro-deletion at the DiGeorge/velocardiofacial commonly deleted region.

4 ible for the cardiovascular abnormalities in velocardiofacial/DiGeorge syndrome.

5 The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the mos

6 ate and BCD but may be expanded to a broader velocardiofacial-like syndrome.

7 eletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent.

8 Rs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are

9 duals are within LCRs distal to the DiGeorge/velocardiofacial microdeletion region.

10 The majority of patients with DiGeorge, velocardiofacial or conotruncal anomaly facial syndromes

11 , Smith-Magenis, Miller-Dieker, and DiGeorge/velocardiofacial or the 22q11 deletion syndromes.

12 ects occur commonly in DiGeorge syndrome and velocardiofacial syndrome (22q11DS), and in Tbx1(+/-) mi

13 DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder

14 The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively com

15 we have studied defines a DIGeorge syndrome/velocardiofacial syndrome (DGS/VCFS) minimal critical re

16 the region commonly deleted in DiGeorge and velocardiofacial syndrome (DGS/VCFS) patients.

17 y occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which most brea

18 some 22q11 are the genetic basis of DiGeorge/velocardiofacial syndrome (DGS/VCFS), the most common de

19 ound in almost 90% of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS).

20 s, with overlapping phenotypes, for example, velocardiofacial syndrome (VCFS) and DiGeorge syndrome (

21 Velocardiofacial syndrome (VCFS) and DiGeorge syndrome (

22 of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) have deletions of chrom

23 of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) have deletions of chrom

24 aploinsufficiency for this region results in velocardiofacial syndrome (VCFS) in humans.

25 Velocardiofacial syndrome (VCFS) is a developmental diso

26 ioeconomic status (SES) and the diagnosis of velocardiofacial syndrome (VCFS) predicted a lower FSIQ

27 gene deleted in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) which has homologs in s

28 and the most common microdeletion syndrome, velocardiofacial syndrome (VCFS), also known as 22q11.2

29 ty of patients with DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly fa

30 tively a group of related phenotypes, namely velocardiofacial syndrome (VCFS), DiGeorge anomaly (DGA)

31 letions at 22q11.2 are linked to DiGeorge or velocardiofacial syndrome (VCFS), whose hallmarks includ

32 otype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS).

33 Children and adolescents with velocardiofacial syndrome also are at greater risk for d

34 Nineteen participants with velocardiofacial syndrome and 19 age- and gender-matched

35 Twenty-three children and adolescents with velocardiofacial syndrome and 23 comparison subjects, in

36 n human chromosome 22q11 are associated with velocardiofacial syndrome and DiGeorge syndrome and lead

37 l as aberrant frontotemporal connectivity in velocardiofacial syndrome and in previous schizophrenia

38 cts in humans, such as Hirschsprung disease, velocardiofacial syndrome and related neurocristopathies

39 DiGeorge syndrome, velocardiofacial syndrome and various other malformation

40 earch may help determine which children with velocardiofacial syndrome are at risk for serious psychi

41 The most prominent structural findings in velocardiofacial syndrome are reduced white matter volum

42 etermine whether neuroanatomical features in velocardiofacial syndrome are similar to those reported

43 HIRA maps to the DiGeorge/velocardiofacial syndrome critical region (DGCR) at 22q1

44 In a cross-sectional analysis, children with velocardiofacial syndrome exhibited aberrant volumetric

45 Relative to the comparison group, the velocardiofacial syndrome group had reduced white matter

46 the comparison group was not evident in the velocardiofacial syndrome group.

47 Children with velocardiofacial syndrome had significantly smaller aver

48 Specifically, velocardiofacial syndrome has been proposed as a disease

49 DiGeorge syndrome (DGS) and velocardiofacial syndrome have been shown to be associat

50 anisotropy was observed in individuals with velocardiofacial syndrome in areas previously implicated

51 Velocardiofacial syndrome is a common genetic condition

52 Velocardiofacial syndrome is also known to affect brain

53 temporal lobe and hippocampal development in velocardiofacial syndrome is potentially concordant with

54 22q11.2 deletion syndrome (22q11DS) (velocardiofacial syndrome or DiGeorge syndrome) is the m

55 uses most of the features of the DiGeorge or Velocardiofacial syndrome phenotypes, including aortic a

56 Velocardiofacial syndrome results from a microdeletion o

57 iation between variations in neuroanatomy in velocardiofacial syndrome subjects and the associated ne

58 Fifteen children and adolescents with velocardiofacial syndrome were matched by age and gender

59 The 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) is associated with attentiona

60 etion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live birt

61 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) typically exhibit thymic hypo

62 ions (175), and 22q11.21 deletions (DiGeorge/velocardiofacial syndrome, 166).

63 ion of the gene within the deleted region in velocardiofacial syndrome, a disorder associated with hi

64 f cognitive and neuropsychiatric problems in velocardiofacial syndrome, and 2) consider the associati

65 These include DiGeorge syndrome, Velocardiofacial syndrome, Cat-eye syndrome and recurren

66 Velocardiofacial syndrome, caused by a deletion on chrom

67 DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face synd

68 osome 22q11.2 is found in most patients with velocardiofacial syndrome, DiGeorge syndrome, and conotr

69 Velocardiofacial syndrome, DiGeorge syndrome, and some o

70 ufficiency disorders, the 22q11.2DS/DiGeorge/Velocardiofacial syndrome, to test the feasibility of hi

71 n conditions collectively termed CATCH 22 or velocardiofacial syndrome, which include severe craniofa

72 , speech, immunology, and pathophysiology of velocardiofacial syndrome.

73 ctive pharyngeal arch remodeling in DiGeorge/Velocardiofacial syndrome.

74 mplicated in the neurocognitive phenotype of velocardiofacial syndrome.

75 ons of white matter tract structure occur in velocardiofacial syndrome.

76 structure in children and young adults with velocardiofacial syndrome.

77 structures in children and adolescents with velocardiofacial syndrome.

78 proximately 11% smaller in the children with velocardiofacial syndrome.

79 phological variation among the children with velocardiofacial syndrome.

80 Aberrant brain morphology is associated with velocardiofacial syndrome.

81 deletion on one chromosome 22, resulting in velocardiofacial syndrome.

82 H maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) a

83 ifferent rearrangements on 22q11, leading to velocardiofacial syndrome/DiGeorge syndrome and cat-eye

84 22q11-deletion (DiGeorge/velocardiofacial) syndrome (22q11DS) is modeled by mutat

85 letion syndrome, which includes DiGeorge and velocardiofacial syndromes (DGS/VCFS), is the most commo

86 elman, Williams, Smith-Magenis, and DiGeorge/velocardiofacial syndromes in a single hybridization.

87 drome (22q11DS), which includes DiGeorge and velocardiofacial syndromes, develops psychiatric disorde

88 the region commonly deleted in DiGeorge and velocardiofacial syndromes.

89 s lacking typical DiGeorge syndrome (DGS) or velocardiofacial (VCF) dysmorphic features, and more com

90 DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may presen