ライフサイエンスコーパス: brain malformation

1 s reveals myelination defects in addition to brain malformation.

2 (mTORC1) was detected in this developmental brain malformation.

3 e microcephaly and a wide spectrum of severe brain malformations.

4 PR56 mutations cause myelination defects and brain malformations.

5 psy identified to date, including cases with brain malformations.

6 y in muscular dystrophies without associated brain malformations.

7 patients had focal epilepsy associated with brain malformations.

8 o the alarming number of cases of congenital brain malformations.

9 enetic networks underlying specific types of brain malformations.

10 h neurogenetic disorders that often included brain malformations.

11 tin, its distribution in PDE, and associated brain malformations.

12 detecting somatic mutations in patients with brain malformations.

13 reported incidence of fetal microcephaly and brain malformations.

14 by severe muscular dystrophy associated with brain malformations.

15 ients with retinal pathologies or congenital brain malformations.

16 developmental junctures can lead to complex brain malformations.

17 espiratory distress syndromes and congenital brain malformations.

18 uscular dystrophies with associated, similar brain malformations.

19 hies, stereotypic craniofacial anomalies and brain malformations.

20 at can be present with or without associated brain malformations.

21 gical mutant mice, such as reeler, and human brain malformations.

22 , metabolic diseases (11 of 14 [78.6%]), and brain malformations (20 of 61 [32.8%]).

23 tations probably account for the less severe brain malformations, although other patients with missen

24 We report that IP6K1 deletion leads to brain malformation and abnormalities of neuronal migrati

25 otein, CASK, recently implicated in X-linked brain malformation and ID.

26 nction, to explore how impairments may cause brain malformation and neurodevelopmental disease.

27 Gene cloning for human brain malformations and degenerative disorders identifie

28 tions as an important cause of epileptogenic brain malformations and establish megalencephaly, hemime

29 h is very often associated with other severe brain malformations and in most of the cases subsequent

30 complex results in muscular dystrophies and brain malformations and in some cases cellular polarity

31 congenital muscular dystrophies (CMDs) with brain malformations and mental retardation.

32 and varying degrees of developmental delay, brain malformations, and additional phenotypes.

33 cephalopathy with burst suppression, without brain malformations, and demonstrate feasibility of gene

34 mechanisms can cause microcephaly and other brain malformations, and understanding them is critical

35 Brain malformations are individually rare but collective

36 y static encephalopathies in children have a brain malformation as their substrate.

37 evels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intelle

38 otein-coupled receptor family, cause a human brain malformation called bilateral frontoparietal polym

39 ons in the GPR56 gene cause a specific human brain malformation called bilateral frontoparietal polym

40 Lissencephaly is a severe brain malformation caused by impaired neuronal migration

41 Primary microcephaly is a congenital brain malformation characterized by a head circumference

42 Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar v

43 Cobblestone brain malformation (COB) is a neuronal migration disorde

44 at various stages of development, leading to brain malformations, developmental delay, intellectual d

45 Whereas the brain malformation due to LIS1 mutations was more severe

46 unprecedented viable animal model for severe brain malformations due to defects in neural progenitor

47 Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration i

48 cteristics described here include structural brain malformations, dysmorphic facial features, and neo

49 s a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation.

50 oprosencephaly, the most frequent congenital brain malformation, explaining its drastically reduced p

51 cephaly, neural tube defects and other early brain malformations, eye abnormalities, and other centra

52 ology and abnormal histology associated with brain malformations has been studied extensively, synapt

53 Genetic studies of human brain malformation have proven a surprising source for f

54 the frequency and clinical manifestations of brain malformations, however, has increased dramatically

55 ental defects such as abnormal body axis and brain malformation, implying disrupted cilia-related sig

56 y (HPE), which is the most common congenital brain malformation in humans.

57 eterotopia, also known as "double cortex," a brain malformation in which heterotopic gray matter is i

58 Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and

59 ause brain overgrowth, but here we show that brain malformations in apoptosis-deficient mutants are d

60 decreased seizure thresholds associated with brain malformations in MAM-exposed rats.

61 l tissue development and the pathogenesis of brain malformations in reductionist in vitro paradigms.

62 ted individuals displayed a constellation of brain malformations including cortical gyral and white-m

63 ed adulthood showed reduced life expectancy, brain malformations including hippocampus hypoplasia and

64 Multiple brain malformations including overmigration of neocortic

65 ycan in mice is sufficient to cause CMD-like brain malformations, including disarray of cerebral cort

66 iency of this process often results in major brain malformations, including human lissencephaly (smoo

67 te-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrom

68 Despite these striking brain malformations, individuals with CMS generally do n

69 Brain malformations involving the corpus callosum are co

70 ction mutations in ZIC2 result in the severe brain malformation known as holoprosencephaly (HPE), ind

71 It is defined by a distinctive brain malformation known as the "molar tooth sign" on ax

72 13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized

73 neuronal migration, causing the severe human brain malformation lissencephaly.

74 l genitalia, which typically includes severe brain malformations (lissencephaly, agenesis of the corp

75 various neurodevelopmental disorders (i.e., brain malformations, mental retardation, and autism).

76 accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis of corpus cal

77 Brain malformations occurred mainly in patients with sev

78 Holoprosencephaly is a relatively common brain malformation occurring in 5-12/100,000 live births

79 Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainste

80 ensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmet

81 Children with brain malformations often exhibit an intractable form of

82 Nonetheless, no brain malformations or pathologies were evident.

83 Lissencephaly is a severe congenital brain malformation resulting from incomplete neuronal mi

84 rietal polymicrogyria (BFPP) is a congenital brain malformation resulting in irregularities on the su

85 nsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients.

86 24a46 expression in zebrafish embryos caused brain malformation, spinal motor neuron loss, and poor m

87 involvement ranging from focal or segmental brain malformations (such as hemimegalencephaly and poly

88 Congenital muscular dystrophies with brain malformations, such as muscle-eye-brain disease, e

89 We do this from the perspective of human brain malformation syndromes, noting both what is now kn

90 tations may cause more subtle forms of human brain malformation than classic lissencephalies.

91 Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or

92 ular heterotopia (PNH) are two developmental brain malformations that have been described independent

93 at least partly understood); (iii) localized brain malformations that significantly affect the brain

94 or genes is characterized by the presence of brain malformations, the cortical tubers that are though

95 rpus callosum (AgCC), one of the most common brain malformations to identify differences in the effec

96 have been reported in a few individuals with brain malformations, to date.

97 the molecular basis of the devastating human brain malformation, type I lissencephaly (Lis1).

98 of known and candidate genes associated with brain malformations, we applied targeted high-coverage s

99 In the past, children with many brain malformations were classified as having static enc

100 in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting