ライフサイエンスコーパス: congenital cataract

1 g has been a mainstay in treating unilateral congenital cataract.

2 ual acuity in infants treated for unilateral congenital cataract.

3 tion (n = 57) in 114 infants with unilateral congenital cataract.

4 contact lens in 114 infants with unilateral congenital cataract.

5 ontact lens in 114 infants with a unilateral congenital cataract.

6 d clinical trial of treatment for unilateral congenital cataract.

7 ren less than 7 months old with a unilateral congenital cataract.

8 ding lens alpha-crystallin mutants linked to congenital cataract.

9 man gammaD-crystallin mutant associated with congenital cataracts.

10 onatal diabetes, sensorineural deafness, and congenital cataracts.

11 hypoplasia, autosomal dominant keratitis and congenital cataracts.

12 the pathogenesis of alphaA R116C associated congenital cataracts.

13 ally defective AQP0 protein from humans with congenital cataracts.

14 re than 12 different genetic loci that cause congenital cataracts.

15 lly linked to one form of autosomal dominant congenital cataracts.

16 '-end of the gene occurred in a patient with congenital cataracts.

17 ye was advocated for infants with unilateral congenital cataracts.

18 utation spectrum of Cx50 in association with congenital cataracts.

19 1R and G588S) in two families with extensive congenital cataracts.

20 ft after amino acid 255 and causes recessive congenital cataracts.

21 ctrum and frequency of genes responsible for congenital cataracts.

22 s include nephrogenic diabetes insipidus and congenital cataracts.

23 f the brain, subependymal calcification, and congenital cataracts.

24 ystallin, the P23T mutant is associated with congenital cataracts.

25 nal mutant connexin46 (CX46) associated with congenital cataracts.

26 Pakistani families with autosomal recessive congenital cataracts.

27 in gene have been linked to several types of congenital cataracts.

28 an, lamellar, coralliform, and fasciculiform congenital cataracts.

29 of stability, is the primary basis for P23T congenital cataracts.

30 associated genes in 27 Chinese families with congenital cataracts.

31 ity tag, and lens tissue from a patient with congenital cataracts.

32 l deafness diagnosed soon after birth (5/5), congenital cataracts (4/5), and hypotonia (4/5).

33 f all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common

34 f all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common

35 Autosomal dominant congenital cataracts (ADCC) are clinically and genetical

36 ighly penetrant, autosomal dominant forms of congenital cataracts (ADCC) are most common.

37 dicate that crystallin mutations involved in congenital cataracts altered protein-protein interaction

38 reated with 1 of 2 treatments for unilateral congenital cataract and followed up to 5 years of age.

39 Human congenital cataract and ocular anterior segment dysgenes

40 carring as a result of vitamin A deficiency, congenital cataract and retinopathy of prematurity.

41 Early surgery for unilateral congenital cataract and the presence of visual acuity be

42 Xcat mice display X-linked congenital cataracts and are a mouse model for the human

43 linked congenital disease that presents with congenital cataracts and glaucoma, as well as renal and

44 -linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation an

45 i-organ disease bronchio-oto-renal syndrome, congenital cataracts and late-onset deafness.

46 The vacuolated lens (vl) mouse mutant causes congenital cataracts and neural tube defects (NTDs), wit

47 branchio-oto-renal (BOR) syndrome as well as congenital cataracts and ocular defects (OD).

48 ted with the common disorders of strabismus, congenital cataract, and amblyopia.

49 disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associa

50 isorder characterized by mental retardation, congenital cataracts, and renal tubular dysfunction.

51 e including neonatal/infancy-onset diabetes, congenital cataracts, and sensorineural deafness.

52 sults in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly

53 inimum UAT was significantly associated with congenital cataracts (aOR = 1.51; 95% CI: 1.14, 1.99).

54 f all cases are familial; autosomal-dominant congenital cataract appears to be the most-common famili

55 Autosomal-recessive congenital cataracts (arCC) form a clinically diverse an

56 Congenital cataracts are a common major abnormality of t

57 Congenital cataracts are a common major abnormality of t

58 Congenital cataracts are a common major abnormality of t

59 s can be very challenging in some cases, for congenital cataracts are clinically and genetically hete

60 Recovery studies after removal of dense congenital cataracts are examples of this, but most are

61 Congenital cataracts are one of the most common major ey

62 An autosomal dominant congenital cataract associated with a missense mutation,

63 r impetus for the treatment of children with congenital cataract at the earliest possible age.

64 up that involved 114 infants with unilateral congenital cataracts at 12 sites.

65 cell denucleation (LFCD) is associated with congenital cataracts, but the pathobiology awaits elucid

66 enile-onset cataracts are distinguished from congenital cataracts by the initial clarity of the lens

67 Congenital cataracts (CCs), responsible for about one-th

68 he locus for the clinically distinct Volkman congenital cataract (CCV).

69 ome is an X-linked disorder characterized by congenital cataracts, cognitive disability, and proximal

70 reatment cost of an infant with a unilateral congenital cataract corrected optically with an IOL was

71 following crystallin genes involved in some congenital cataracts: CRYAA (R116C), CRYAB (R120G), and

72 Congenital cataract crystallin genes were cloned and fus

73 We previously mapped X-linked congenital cataract (CXN) in one family to an interval o

74 imated yearly incidence of the syndrome from congenital cataract data for births between 1990 and 200

75 a variety of ocular abnormalities, including congenital cataracts, decreased retinal function, and ha

76 P49/BFSP2 gene have been linked to familial, congenital cataract, demonstrating an important role of

77 nked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphis

78 HS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic featu

79 pmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphi

80 In humans, GK deficiency results in congenital cataracts due to an accumulation of galactito

81 hin mapped genomic intervals associated with congenital cataract for further investigation.

82 a, hyperferritinemia with autosomal dominant congenital cataract, Friedreich's ataxia, and X-linked s

83 ges in protein-protein interactions of those congenital cataract gene products with the three major c

84 ability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity

85 forms is associated with autosomal recessive congenital cataract in four distantly related Arab famil

86 An autosomal dominant congenital cataract in human is associated with mutation

87 An autosomal dominant congenital cataract in humans is associated with mutatio

88 tant of gammaD-crystallin is associated with congenital cataract in mice and was previously shown to

89 linical trial of 114 infants with unilateral congenital cataract in referral centers who were between

90 n alphaA-crystallin has been associated with congenital cataracts in humans.

91 or segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans.

92 Autosomal dominant congenital cataract is a clinically and genetically hete

93 Congenital cataract is a leading cause of visual disabil

94 Congenital cataract is both clinically diverse and genet

95 The mechanism of amblyopia in children with congenital cataract is not understood fully, but studies

96 Congenital cataract is the most frequent inherited ocula

97 ment of amblyopia associated with unilateral congenital cataracts is evolving.

98 This form of congenital cataracts maps to a 12-cM region on chromosom

99 ) is a multisystem disorder characterized by congenital cataracts, mental retardation, and renal Fanc

100 t with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental de

101 developmental ocular disorders that include congenital cataract, microcornea, coloboma and anterior

102 ersistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and n

103 n two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate co

104 stallin mutants, W42R and W42Q: the former a congenital cataract mutation, and the latter a mimic of

105 eted next-generation sequencing in inherited congenital cataract patients provided significant diagno

106 well-described motion perception deficits in congenital cataract patients.

107 tic disease characterized by the presence of congenital cataracts, profound learning disabilities and

108 unctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardat

109 male lethality and comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and di

110 e observations of an adult case of bilateral congenital cataract removal, we have found evidence that

111 vs aphakia, and optimal timing of unilateral congenital cataract removal.

112 X-linked disorder characterized by bilateral congenital cataracts, renal Fanconi syndrome, and mental

113 , mice deficient in Ocrl1 do not develop the congenital cataracts, renal Fanconi syndrome, or neurolo

114 ocular eyelid suture, a laboratory model for congenital cataract, results in shrinkage of ocular domi

115 se reported by 1721 that he had performed 36 congenital cataract surgeries, with the youngest patient

116 secondary IOL implantation for aphakia after congenital cataract surgery at L. V. Prasad Eye Institut

117 the author of the next identified report of congenital cataract surgery in 1706, stated that he was

118 Long-term monitoring of eyes after congenital cataract surgery is important because we esti

119 The earliest reference to congenital cataract surgery that we identified, reported

120 ords of 62 eyes of 37 children who underwent congenital cataract surgery when <7 months of age by the

121 9.5% (95% CI: 10.0%-36.1%) by 10 years after congenital cataract surgery.

122 nt the early development of strabismus after congenital cataract surgery.

123 tand the role of Cx50 in the pathogenesis of congenital cataract, the functional consequences of the

124 ls containing genes associated with isolated congenital cataract, the mutant gene is ranked within th

125 ith a history of developmental or incomplete congenital cataracts, the well-known enhancement of the

126 y with the clinical phenotypes--ranging from congenital cataracts to nephrogenic diabetes insipidus.

127 individuals affected by autosomal recessive congenital cataracts was ascertained.

128 ening of a panel of patients with hereditary congenital cataract we identified a mutation in MAF in a

129 of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who un

130 sed with nonsyndromic or syndromic bilateral congenital cataract were selected for investigation thro

131 Congenital cataracts were significantly associated with

132 during the relevant developmental window and congenital cataracts which should be confirmed with othe

133 d records of children less than 2 years with congenital cataract who underwent primary IOL implantati

134 The mean cost of treatment for a unilateral congenital cataract with primary IOL implantation was $1

135 ngs suggest that the molecular basis for the congenital cataract with the alpha A-R116C mutation is d

136 ngs suggest that the molecular basis for the congenital cataract with the alphaA-R116C mutation is th