ライフサイエンスコーパス: intellectual

1 ) are correlated with cortical thickness and intellectual abilities in adolescents and in individuals

2 thought to be the foundation for the unique intellectual abilities of humans.

3 Common stereotypes associate high-level intellectual ability (brilliance, genius, etc.) with men

4 ditions in a pediatric sample that varied in intellectual ability and clinical features.

5 ronment, and maternal depression) on general intellectual ability, declarative memory, procedural mem

6 8 SD (0.06-0.31, p=0.0047) higher in general intellectual ability, similar to the increase with 1 yea

7 Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD), results

8 The human specificity provides both intellectual and methodological challenges, lacking a ro

9 ammatory disorder with severe and persistent intellectual and physical problems.

10 cterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable ca

11 ife experience and social position may bring intellectual and social advantages to their offspring.

12 In addition to craniofacial, intellectual, and cardiac defects, KS is also characteri

13 ard Children's Hospital (Palo Alto, CA), had intellectual assessments.

14 t underlie both marijuana initiation and low intellectual attainment.

15 omnography and neurocognitive assessments of intellectual, attention, memory, language, and executive

16 for a neurobiological understanding of human intellectual capabilities has long occupied those very c

17 We highlight the intellectual challenges of understanding how a de novo g

18 es affected with a similar pattern of severe intellectual deficiency, microcephaly, movement disorder

19 cted manner throughout the brain, leading to intellectual deficits and sensory dysfunction in the fra

20 hereditary spastic paraplegia accompanied by intellectual deficits.

21 s gifted, defined as a student with superior intellectual development and capable of high performance

22 derlying neural changes and implications for intellectual development are largely unknown.

23 ALCN) regulates locomotion, respiration, and intellectual development.

24 hlight the role of this capacity for general intellectual development.

25 line in consecutively enrolled patients with intellectual developmental disorder and unexplained meta

26 SD group was further divided into those with intellectual disabilities (developmental/cognitive and a

27 m spectrum disorder (ASD), schizophrenia and intellectual disabilities (ID), implicating this atypica

28 Genetic mutations known to cause intellectual disabilities (IDs) are concentrated in spec

29 ged 18 years or older, with mild to moderate intellectual disabilities and clinically significant dep

30 vation intervention (BeatIt) for people with intellectual disabilities and depression.

31 patients with autism spectrum disorders and intellectual disabilities and has been hypothesized to c

32 psychological interventions for people with intellectual disabilities and mental health problems.

33 , with potential relevance in the context of intellectual disabilities and psychiatric disorders.Brai

34 ent with 7,8-dihydroxyflavone at alleviating intellectual disabilities in the DS model.

35 t involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GI

36 ions of these SNPs have been associated with intellectual disabilities, schizophrenia, and synaptic p

37 ision is not accessible for many adults with intellectual disabilities.

38 ation, and more variability in the degree of intellectual disabilities.

39 ies of having an IQ in the normal (>/=70) or intellectual disability (<70) range were calculated.

40 fest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), p

41 [5.9%]; adjusted RR, 3.2; 95% CI, 2.8-3.6), intellectual disability (104 cases [2.9%] vs 137 control

42 ned to speak, and nearly all had significant intellectual disability (88%).

43 (coefficient -0.16, p=0.004) and presence of intellectual disability (coefficient -4.0, p=0.044) also

44 Burden analysis of CNVs implicated in intellectual disability (excluding known SZ CNVs) for as

45 tations in the NMD factor gene, UPF3B, cause intellectual disability (ID) and are strongly associated

46 ovo CTNNB1 mutations as a cause of syndromic intellectual disability (ID) and autism spectrum disorde

47 The leading cause of heritable intellectual disability (ID) and autism spectrum disorde

48 Intellectual disability (ID) and autism spectrum disorde

49 ted on the X chromosome, are associated with intellectual disability (ID) and autism spectrum disorde

50 r variations (CNVs) known to confer risk for intellectual disability (ID) and autism spectrum disorde

51 understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD

52 Intellectual disability (ID) disorders are genetically a

53 nsensitivity to noxious stimuli and variable intellectual disability (ID) due to mutations in the NTR

54 , but to our knowledge, the association with intellectual disability (ID) has not been investigated.

55 Intellectual disability (ID) is a clinically and genetic

56 Intellectual disability (ID) is a common condition with

57 Intellectual disability (ID) is a common neurodevelopmen

58 Intellectual disability (ID) is a highly heterogeneous d

59 Intellectual disability (ID) is a measurable phenotypic

60 Intellectual disability (ID) is a prevailing neurodevelo

61 The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times

62 Intellectual disability (ID) occurs in almost 3% of newb

63 e identified two GRASP1 point mutations from intellectual disability (ID) patients that showed conver

64 cause of autism spectrum disorder (ASD) and intellectual disability (ID), and frequently presents wi

65 d by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder.

66 ffected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment a

67 terized by the co-occurrence of epilepsy and intellectual disability (ID), typically with development

68 ame ancestor) with at least 1 offspring with intellectual disability (ID).

69 nes cause brain overgrowth in the context of intellectual disability (ID).

70 ause of certain forms of autosomal-recessive intellectual disability (ID).

71 O for the first time as a candidate gene for intellectual disability (ID).

72 DDX3X mutations are linked to intellectual disability (ID).

73 ight and/or head circumference >/=+2 SD) and intellectual disability (OGID).

74 -existing epilepsy was the only predictor of intellectual disability (OR 8.0, 95% CI 1.1-59.6).

75 eft lip and cleft palate, increased risks of intellectual disability (relative risk [RR], 2.2; 95% CI

76 utations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features:

77 G>T (p.L254F)) that segregates with X-linked intellectual disability (XLID) in an affected family.

78 X-linked intellectual disability (XLID) is a clinically and genet

79 e cause neurodevelopmental disorder X-linked intellectual disability (XLID).

80 tic protein, each led to X-chromosome-linked intellectual disability (XLID).

81 Ras mutations associated with intellectual disability abolished the spacing effect and

82 the gene for TBLR1 that are associated with intellectual disability also prevent MeCP2 binding.

83 -53.01; P = 0.001) for eyes of children with intellectual disability and 21.93 (95% CI, 2.95-162.80;

84 Affected individuals exhibit growth failure, intellectual disability and a broad spectrum of developm

85 (FXS) is the most common heritable cause of intellectual disability and a leading genetic form of au

86 mate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and perip

87 4.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features

88 ed with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (AS

89 Fragile-X syndrome (FXS) patients display intellectual disability and autism spectrum disorder due

90 ophysiology that underlies multiple forms of intellectual disability and autism spectrum disorder.

91 One individual additionally presents with intellectual disability and autism spectrum disorder.

92 TATEMENT FXS is a leading heritable cause of intellectual disability and autism spectrum disorders.

93 syndrome (FXS) is a leading genetic cause of intellectual disability and autism.

94 ter and is the most common form of heritable intellectual disability and autism.

95 neurodevelopmental disorders associated with intellectual disability and autism.

96 syndrome, the most common cause of inherited intellectual disability and autism.

97 Mutations in CTCF cause intellectual disability and autistic features in humans.

98 Human mutations in CTCF cause intellectual disability and autistic features.

99 F3-mediated transcriptional regulation cause intellectual disability and developmental delay and are

100 s from published exome studies of trios with intellectual disability and developmental disorders (ID/

101 er variations to chromosome 21 (HSA21) cause intellectual disability and Down Syndrome, but our under

102 ral sclerosis (ALS) and developmental delay, intellectual disability and dysmorphic features.

103 ain and whose dysfunction has been linked to intellectual disability and epilepsy.

104 n, were recently described to cause X-linked intellectual disability and epilepsy.

105 ed 25 genes showing a bias for autism versus intellectual disability and highlighted a network associ

106 Genetic studies of intellectual disability and identification of monogenic

107 ption factor 1-like (MYT1L) gene in cases of intellectual disability and in the etiology of neurodeve

108 somy 21, is the most common genetic cause of intellectual disability and is associated with a greatly

109 e (FXS) is the most common form of inherited intellectual disability and is associated with up to 5%

110 rating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KA

111 ns in TBC1D23 who display moderate to severe intellectual disability and microcephaly.

112 his gene have developmental delay, epilepsy, intellectual disability and often autism; the most frequ

113 in GRIA4 in five unrelated individuals with intellectual disability and other symptoms.

114 deleterious sequence variants in PBX1 cause intellectual disability and pleiotropic malformations re

115 variants might lead to a syndrome including intellectual disability and preferential degeneration of

116 spectrum disorder, epileptic encephalopathy, intellectual disability and schizophrenia, in addition t

117 orders, including autism spectrum disorders, intellectual disability and schizophrenia.

118 sing several neurological defects, including intellectual disability and seizures.

119 TSC is associated with autism, intellectual disability and severe epilepsy.

120 risk of schizophrenia both with and without intellectual disability and support an overlap of geneti

121 y of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered

122 Epilepsy and intellectual disability are associated with rare variant

123 Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental d

124 such as autism spectrum disorders (ASDs) and intellectual disability are thought to arise largely fro

125 ildren with ASD-noID or DD suggests that the intellectual disability associated with ASD might be eti

126 r dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic reso

127 , we propose that discrete gene mutations in intellectual disability can generate "secondary" pathoph

128 Association of individual intellectual disability CNV loci with SZ.

129 Collectively, intellectual disability CNVs were significantly enriched

130 ders study and one from the Northern Finland Intellectual Disability cohort.

131 Here, we describe an intellectual disability disorder in ten individuals with

132 tal lethal motor neuron disease and X-linked intellectual disability disorders, thus highlighting the

133 y intelligence quotient (IQ) points loss and intellectual disability due to polybrominated diphenyl e

134 sociated with epileptic encephalopathies and intellectual disability in humans, the findings of this

135 ensory dysfunctions as well as non-syndromic intellectual disability in humans.

136 established roles in cognitive function and intellectual disability in particular.

137 our findings suggest novel explanations for intellectual disability in Tau deficient individuals, as

138 manage challenging behaviour in adults with intellectual disability is widespread but controversial,

139 , we propose that discrete gene mutations in intellectual disability might generate "secondary" patho

140 h may provide an explanation of the variable intellectual disability observed in CIPA patients.

141 h ongoing seizure activity in adulthood, (2) intellectual disability of any degree, and (3) no struct

142 f infancy with migrating focal seizures, and intellectual disability or autism without epilepsy.

143 real sets of NGS data from individuals with intellectual disability or epilepsy correctly recognizes

144 Here we show that the X-linked intellectual disability protein interleukin-1 receptor a

145 Intellectual disability ranged from borderline to profou

146 spectrum disorders, developmental delay and intellectual disability risk factors at embryonic day 14

147 disrupt genes associated with autism and/or intellectual disability risk variants.

148 may provide a feasible strategy to treat the intellectual disability seen in Kabuki syndrome and rela

149 ividuals from 6 independent families with an intellectual disability syndrome associated with seizure

150 Kabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in

151 se autosomal recessive cerebellar ataxia and intellectual disability syndrome in humans.

152 OS, also reported as blepharophimosis-ptosis-intellectual disability syndrome).

153 ed autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three forms of her

154 ion deficiency and a previously unrecognized intellectual disability syndrome.

155 Snyder-Robinson syndrome (SRS), an X-linked intellectual disability syndrome; however, little is kno

156 spectrum of genetic disorders with X-linked intellectual disability that are difficult to range as L

157 ency is a preventable and treatable cause of intellectual disability that should be considered in the

158 Furthermore, a highly increased risk of intellectual disability was found for the deletion (IRR,

159 Motor and intellectual disability was seen predominantly in partic

160 ith unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toro

161 urodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, an

162 phenotype of KS includes moderate to severe intellectual disability with absent speech, hypotonia, b

163 ise ten females and five males, and all have intellectual disability with delayed speech, a history o

164 pathogenic de novo variants in GRIA4 lead to intellectual disability with or without seizures, gait a

165 iated with autism spectrum disorder (ASD) or intellectual disability without autism (ID).

166 nd OCPs influences offspring risk of ASD and intellectual disability without autism (ID).

167 usly implicated in ADHD), ST3GAL3 (linked to intellectual disability) and PEX2 (related to perixosoma

168 s shared by ARX-related disorders, including intellectual disability, abnormal genitalia, and structu

169 ous missense mutations in four probands with intellectual disability, abnormal neurological findings,

170 characterized by epileptic seizures, severe intellectual disability, and autistic features.

171 n dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both

172 in short stature, autism spectrum disorder, intellectual disability, and corpus callosum agenesis.

173 and are associated with developmental delay, intellectual disability, and defects involving the brain

174 man MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy.

175 are affected by global developmental delay, intellectual disability, and expressive speech disorder

176 e core phenotype includes moderate to severe intellectual disability, and many individuals exhibit ce

177 th severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed

178 otein associated with Pitt-Hopkins syndrome, intellectual disability, and schizophrenia (SCZ).

179 mary microcephaly, autism spectrum disorder, intellectual disability, and schizophrenia show disease-

180 alencephaly, frontal predominant pachygyria, intellectual disability, and seizures.

181 nemia, spastic diplegia, loss of ambulation, intellectual disability, and seizures.

182 a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity a

183 isorder that is a leading cause of inherited intellectual disability, and the most common known cause

184 rocephaly, delayed developmental milestones, intellectual disability, and, in two out of four cases,

185 phthalmoplegia, cardiomyopathy, nonsyndromic intellectual disability, apoptosis, and the Warburg effe

186 and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy af

187 o share similar clinical features, including intellectual disability, attention deficit/hyperactivity

188 t overlapped 1 or more genes associated with intellectual disability, autism, and/or epilepsy were id

189 d language development, often accompanied by intellectual disability, autism, dysmorphology and gastr

190 ephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy incl

191 atients with hypotonia, developmental delay, intellectual disability, congenital anomalies, character

192 asome complex, in unrelated individuals with intellectual disability, congenital malformations, ophth

193 ser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, colobom

194 rome, a complex congenital anomaly including intellectual disability, epilepsy and Hirschsprung disea

195 , which commonly include developmental delay/intellectual disability, epilepsy, and autism spectrum d

196 11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay,

197 to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, a

198 ntile hypotonia, global developmental delay, intellectual disability, expressive language impairment,

199 ed with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, an

200 ng phenotypes including developmental delay, intellectual disability, hearing loss, macrocephaly, dis

201 ), a major disorder characterized by autism, intellectual disability, hyperactivity, and seizures.

202 dividuals with developmental delay, apparent intellectual disability, increased frequency of internal

203 from deficits in neuronal migration, severe intellectual disability, intractable epilepsy and early

204 nger in patients with both schizophrenia and intellectual disability, it is also seen in patients wit

205 FXS is the most prevalent inherited cause of intellectual disability, its mechanistic underpinnings a

206 the ASNS gene exhibit developmental delays, intellectual disability, microcephaly, intractable seizu

207 ,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we foun

208 (active or in remission), motor disability, intellectual disability, or statement of special educati

209 sorder, substance dependence, current abuse, intellectual disability, or unstable serious physical il

210 inal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.

211 type, including early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and mov

212 ent as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia a

213 e evidence that CRBN and CUL4B are linked to intellectual disability, prompts us to hypothesize a pat

214 Main Outcomes and Measures: Death, intellectual disability, schizophrenia, mood affective d

215 elopmental delay (GDD), often accompanied by intellectual disability, seizures and other features is

216 n, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facia

217 nd may be disrupted in conditions that cause intellectual disability, such as Down syndrome (DS).

218 een found in animal models of disorders with intellectual disability, such as Noonan syndrome.

219 enting with autism spectrum disorder or mild intellectual disability, suggesting that the phenotypic

220 In patients with schizophrenia who also have intellectual disability, this burden is concentrated in

221 AS(12V) mutation results in a severe form of intellectual disability, which parallels mental deficits

222 omprising six patients with mild to moderate intellectual disability, with or without epilepsy and be

223 It is possible that additional intellectual disability-associated CNVs increase the ris

224 of rare copy number variants associated with intellectual disability.

225 ase family and is linked to both obesity and intellectual disability.

226 a syndrome of growth delay, microcephaly and intellectual disability.

227 ssociation with autism spectrum disorder and intellectual disability.

228 2B variants in 24 unrelated individuals with intellectual disability.

229 ssembly, and disease mutations in cancer and intellectual disability.

230 utations of hnRNP U and human epilepsies and intellectual disability.

231 tinct pleiotropic malformation syndrome with intellectual disability.

232 of hereditary spastic paraplegia (HSP) with intellectual disability.

233 the role of CNV in adults with epilepsy and intellectual disability.

234 y a reduced cerebral cortex accompanied with intellectual disability.

235 e mutations have been linked to epilepsy and intellectual disability.

236 neurodevelopmental syndromes associated with intellectual disability.

237 X5 variants that confer risk for AD, ALS and intellectual disability.

238 -functioning) and without (high-functioning) intellectual disability.

239 genesis of the corpus callosum (ACC) without intellectual disability.

240 cated in multiple mouse models of autism and intellectual disability.

241 ter, primary ovarian insufficiency, and mild intellectual disability.

242 e (FXS) is the most common form of inherited intellectual disability.

243 hat underlies neurological disorders such as intellectual disability.

244 nent of chromatin remodeling complex, causes intellectual disability.

245 nderstanding of this etiopathogenic class of intellectual disability.

246 aneous, and limb abnormalities combined with intellectual disability.

247 morphic features, profound speech delays and intellectual disability.

248 me (FXS), the most common heritable cause of intellectual disability.

249 , encephalopathy, growth failure, and severe intellectual disability.

250 ve dysfunction associated with developmental intellectual disability.

251 mon genetic cause of developmental delay and intellectual disability.

252 size at birth in addition to non-progressive intellectual disability.

253 ile X, another monogenic cause of autism and intellectual disability.

254 o have the comorbid condition of epilepsy or intellectual disability.

255 ith unexplained childhood-onset epilepsy and intellectual disability.

256 s expression are linked to tumorigenesis and intellectual disability.

257 syndrome with short stature, cataracts, and intellectual disability.

258 pathogenesis of autism spectrum disorder and intellectual disability.

259 e strongly linked to epileptic disorders and intellectual disability.

260 a nonsyndromic, autosomal recessive form of intellectual disability.

261 d human genetic burden for schizophrenia and intellectual disability.

262 epresents the most frequent genetic cause of intellectual disability.

263 memory, autistic features and mostly severe intellectual disability.

264 CNVs and genes in patients with epilepsy and intellectual disability.

265 ked GRIA3 gene, which has been implicated in intellectual disability.

266 patients with schizophrenia who do not have intellectual disability.

267 ons of horizontal gaze palsy, scoliosis, and intellectual disability.

268 is associated with juvenile-onset ataxia and intellectual disability.

269 mutations cause an overgrowth syndrome with intellectual disability.

270 of either autism spectrum disorder (ASD) or intellectual disability/developmental delay (ID/DD).

271 behavioral disorder (eg, developmental delay/intellectual disability/mental retardation, Down syndrom

272 1B) gene causes autism spectrum disorder and intellectual disability; however, the neurobiological ba

273 gnificantly increases in a male, myopic, and intellectual disabled child.

274 ted predictors including demographics, APOE, intellectual enrichment, midlife risk factors (physical

275 nd cardiac and metabolic conditions, but not intellectual enrichment, were associated with greater AD

276 ance were observed on tests of executive and intellectual function; performance on these measures was

277 A neurocognitive evaluation of intellectual functioning (IQ), working memory, and proce

278 umor bed boost was associated with preserved intellectual functioning in WNT and Group 4 patients con

279 s that were not used for clustering, such as intellectual functioning, communication, and socializati

280 care, contraception, and child physical and intellectual growth.

281 hear the word "bioethics," they break out in intellectual hives.

282 STATEMENT Our understanding of the basis for intellectual impairment in Down syndrome is hindered by

283 ive and behavioral profile marked by overall intellectual impairment with relative strength in expres

284 (FXS) is the most common inheritable form of intellectual impairment, including autism.

285 rape seeds is of great economic, as well as intellectual, importance.

286 which an exceptional level of creativity and intellectual ingenuity has been used to design and execu

287 particular focus on standardized subtests of intellectual, language, attention, memory, and executive

288 It is important to understand the intellectual legacies underpinning macrosystems ecology:

289 Our study identifies intellectual milestones in the applications of DECT in a

290 Results Intellectual outcomes declined comparably in each subgro

291 Notably, intellectual property can be protected prior to publicat

292 ity, promoting appropriate use, and managing intellectual property issues.

293 f patients, and attitudes to the eschewal of intellectual property rights.

294 e issues of regulatory approval, patents and intellectual property, assessment of value and cost-effe

295 regarding consent for future data mining and intellectual property.

296 pment Goals, and for children to develop the intellectual skills, creativity, and wellbeing required

297 ier crossing events has served as a unifying intellectual theme connecting the different disciplines

298 First, we compared intellectual trajectories between subgroups.

299 al help in collections care and an increased intellectual vitality, while students simultaneously gai

300 scene was a physical correlate of Francis's intellectual world: wide-ranging, brilliantly lit, a lit