ライフサイエンスコーパス: ectopia

1 I malformation or asymptomatic for tonsilar ectopia.

2 formation and eight as asymptomatic tonsilar ectopia.

3 than in patients with asymptomatic tonsilar ectopia.

4 heterozygous mice in the absence of cellular ectopia.

5 plasia, foliation defects, and Purkinje cell ectopia.

6 iation, agranularity, and Purkinje cell (PC) ectopia.

7 30%, and the appearance of multiple retinal ectopias.

8 a greater likelihood of cerebellar tonsillar ectopia (30.7%; P < .002 and P < .001, respectively) and

9 Ectopia also contains astrocytes, positive for glial fib

10 f actin regulatory proteins, causes neuronal ectopias, alters intralayer positioning in the cortical

11 ing cerebellar hypoplasia with Purkinje cell ectopia and disruption of neuronal layers in the cerebra

12 Granule cell ectopia and hypoplasia are also associated with the brea

13 helial cell development, resulting in thymic ectopia and hypoplasia.

14 opically produces GABA INs, leading to their ectopias and a thinner cortical plate due to diminished

15 The subpial and paraventricular ectopias and connecting cell streams are comprised of po

16 inner limiting membrane led to small retinal ectopias and subsequent changes in the optic nerve.

17 ct behavioral differences between those with ectopias and their non-ectopic littermates.

18 ed clusters of neurons in layer I of cortex (ectopias) and those without.

19 erior cerebellar morphogenesis, granule cell ectopia, and hypoplasia.

20 During cortical development, neuronal ectopias are associated with severe disorganization of r

21 emonstrates that the GABA INs comprising the ectopias are from a cortical Emx1 lineage generated in t

22 flow in patients with asymptomatic tonsilar ectopia averaged 62%.

23 These usually appear as focal cortical ectopias, but also include other abnormalities, such as

24 rmation and those with asymptomatic tonsilar ectopia by using a neurosurgeon's overall clinical deter

25 s suggestive of thoraco-abdominal variety of ectopia cardis.

26 as muscle-eye-brain disease, exhibit neural ectopias caused by overmigration of neurons.

27 Molecular layer ectopia, clusters of misplaced cells in layer I of the n

28 Mutants exhibit granule cell ectopia concomitant with foliation defects.

29 These results indicate that ectopia contain cells of different lineages with diverse

30 ent interneuronal subtypes demonstrates that ectopia contain nonpyramidal cells immunoreactive for ca

31 midline fusion resulting in a cleft palate, ectopia cordis, and a large omphalocele.

32 ound evaluation of either of an omphalocele, ectopia cordis, distal sternal defect, pericardial defec

33 or studies showed that mice with neocortical ectopias demonstrated working memory impairments compare

34 2 mutation causes neocortical and cerebellar ectopias dependent on Dab1, a key signaling protein in t

35 tachment developed in only 1 eye and macular ectopia developed in 5 eyes.

36 Neither retinal detachment nor macular ectopia developed in any of the IVB-treated eyes.

37 d urinary tract, including ureteric bud (UB) ectopia, double ureters/collecting systems, delayed prim

38 ams arising from an aberrant paraventricular ectopia found throughout dTel.

39 We show that cells within ectopia have membrane properties of both pyramidal and a

40 Unlike several other models of UB ectopia, hypersensitivity of p53(-/-) WD to GDNF is not

41 venous blood hormone levels; (b) hypoplasia-ectopia in 32 patients requiring lifelong TRT; (c) nonvi

42 Thymic ectopia in Hoxa3(+/-)Pax1(-/-) compound mutants is due t

43 s within and surrounding layer I neocortical ectopia in NXSMD/EiJ mice.

44 ss of the mouse Gpr56 gene leads to neuronal ectopia in the cerebral cortex, a cobblestone-like corti

45 functional Pax6 protein, have large subpial ectopias in dTel and ventral telencephalon connected by

46 Intracerebellar ectopias in the chimera were composed exclusively of mut

47 esting different origins for extracerebellar ectopias in these regions.

48 ingeal fibroblasts elicited similar cortical ectopias in vivo and altered laminin organization in vit

49 universal, novel phenotype: profound retinal ectopia, in which retinal tissue was often found in the

50 in neurons alone did not result in cortical ectopias, indicating that fak deletion from glia is requ

51 However, ectopia induced by Otx2 differentiated and dispersed as

52 d in fibrillin microfibril biogenesis, cause ectopia lentis (EL) and EL et pupillae.

53 The corneas of patients with MFS with ectopia lentis (EL) were significantly flatter and with

54 mutations cause autosomal recessive isolated ectopia lentis (IEL) and ectopia lentis et pupillae.

55 minant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syn

56 fibrillin-1, is genetically associated with ectopia lentis and alterations in height.

57 the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Ma

58 port a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in

59 of dislocation in patients with a history of ectopia lentis due to Marfan syndrome, idiopathic causes

60 n patients were examined, including one with ectopia lentis et pupillae.

61 recessive isolated ectopia lentis (IEL) and ectopia lentis et pupillae.

62 h suggests a possible link to other forms of ectopia lentis given that many of the genes implicated i

63 ons were among the most consistent features (ectopia lentis in 86%, myopia in 80%).

64 syndrome and primary open angle glaucoma and ectopia lentis in dogs.

65 viewed, 6 (35%) had hereditary or idiopathic ectopia lentis, 5 (29%) had Marfan syndrome, 2 (12%) wer

66 pmental abnormalities including microcornea, ectopia lentis, and early onset of cone-rod dystrophy.

67 comparable in revised Ghent systemic score, ectopia lentis, and most phenotypic features, including

68 estations include bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and catarac

69 nterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblast

70 etardation and other disabilities (including ectopia lentis, osteoporosis, and thromboembolism) in pa

71 d bilateral microcornea, childhood cataract, ectopia lentis, rhegmatogenous retinal detachment, and c

72 e postsurgical aphakia, subluxated cataract, ectopia lentis, traumatic subluxation, and decentered IO

73 nique for visual rehabilitation in pediatric ectopia lentis.

74 same features as those in family 2, without ectopia lentis.

75 Interestingly, the cerebellar ectopia occurs in the absence of any significant alterat

76 leading to disruption of the pia-arachnoid, ectopia of fibroblasts in the cortex, and reactive glios

77 the neural-meningeal boundary, resulting in ectopia of meningeal fibroblasts in the cerebral cortex

78 ghout the diffuse cell zone and resulting in ectopia of mesenchyme-derived fibroblasts in the upper h

79 t component to the environment can cause the ectopia of wild-type Purkinje cells.

80 these defects are due primarily to cellular ectopia or the absence of Reelin.

81 two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nysta

82 al evidence to demonstrate that cells within ectopia receive input from cells within layers I, upper

83 The presence of ectopias resulted in better Morris maze learning for sta

84 n the pial basement membrane underlie neural ectopia seen in those congenital muscular dystrophies (C

85 these irregularities result in small retinal ectopias that extend from the retina into the interstiti

86 itors of the rhombic lip and that cerebellar ectopia were derived from granule neuron precursors (GNP

87 We found that brainstem ectopia were derived from neuronal progenitors of the rh

88 The granule cells of the extracerebellar ectopias were almost entirely derived from Unc5h3/Unc5h3