ライフサイエンスコーパス: clinical phenotype

1 x pathophysiology and a wide spectrum of the clinical phenotype.

2 severe than could be predicted based on the clinical phenotype.

3 s accounted for 15% to 24% of variability of clinical phenotype.

4 ho exhibited a similar but steroid-sensitive clinical phenotype.

5 n error of metabolism with a relatively mild clinical phenotype.

6 otype was 100% compared with only 61% of the clinical phenotype.

7 he association between groups of genes and a clinical phenotype.

8 e same genetic defect completely escape this clinical phenotype.

9 as detected between antibody specificity and clinical phenotype.

10 during enamel development to ameliorate the clinical phenotype.

11 er referral for genetic testing affected the clinical phenotype.

12 d higher robustness to missing data than any clinical phenotype.

13 PPI-REE has emerged as a common clinical phenotype.

14 ated Wisconsin kindred affected by a similar clinical phenotype.

15 ort, we assessed the modifiers affecting the clinical phenotype.

16 pe must not occur in individuals without the clinical phenotype.

17 these relationships were not affected by the clinical phenotype.

18 utative links between Abeta conformation and clinical phenotype.

19 e thalassaemia, might further complicate the clinical phenotype.

20 lations of the IL6 or PRG4 gene and detailed clinical phenotype.

21 ymorphisms (SNPs) and the association with a clinical phenotype.

22 ndrome (MDS) and are closely associated with clinical phenotype.

23 We sought to further characterize its clinical phenotype.

24 fication of genetic variants associated with clinical phenotypes.

25 ic disease, notably with regard to different clinical phenotypes.

26 nce characteristics of each strategy against clinical phenotypes.

27 ncR's accuracy and their relevance to sample clinical phenotypes.

28 te analysis combining information across the clinical phenotypes.

29 t optimal separation between the 3 different clinical phenotypes.

30 match phenotypes of bronchoconstriction with clinical phenotypes.

31 ists in the underlying genetic mutations and clinical phenotypes.

32 splant recipients than previously identified clinical phenotypes.

33 o develop more specific treatments for these clinical phenotypes.

34 ssociated any specific genetic variants with clinical phenotypes.

35 molecular, neurobiological, behavioral, and clinical phenotypes.

36 B patients and corresponded with specific TB clinical phenotypes.

37 usive taxonomy that could distinguish unique clinical phenotypes.

38 ognosis, or therapeutic needs, the so-called clinical phenotypes.

39 quantitative trait loci (eQTL) analysis and clinical phenotypes.

40 flammatory bowel disease comprising multiple clinical phenotypes.

41 sthmatic patients was correlated with asthma clinical phenotypes.

42 cohort of children with asthma to replicate clinical phenotypes.

43 tween experimental seizure-like activity and clinical phenotypes.

44 l molecular-cellular basis of differences in clinical phenotypes.

45 ation activity but presenting with different clinical phenotypes.

46 ctivity and give rise to a broad spectrum of clinical phenotypes.

47 ants closely correlated with the severity of clinical phenotypes.

48 which may represent more severe and complex clinical phenotypes.

49 repertoire sequence patterns associated with clinical phenotypes.

50 igmentosa (RP), and described their detailed clinical phenotypes.

51 defects that closely match their respective clinical phenotypes.

52 ut-allergic individuals displaying different clinical phenotypes.

53 repair or replication underlie a variety of clinical phenotypes.

54 function with the associated and contrasting clinical phenotypes.

55 ifferent maturation stages and have distinct clinical phenotypes.

56 turbations in channel function and divergent clinical phenotypes.

57 of defective adaptive immunity with diverse clinical phenotypes.

58 distinct T-cell-based immune signatures for clinical phenotypes.

59 d were followed prospectively with extensive clinical phenotyping.

60 mputed tomography, respiratory cultures, and clinical phenotyping.

61 med in 52 nuclear families (132 members with clinical phenotypes, 119 with DTI, and 84 with rsfMRI).

62 frontotemporal dementia was the predominant clinical phenotype (18 of 21), but all patients eventual

63 families enriched for ADHD (305 members with clinical phenotyping, 213 with DTI, and 193 with rsfMRI

64 tations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, sk

65 entities lead to the frontotemporal dementia clinical phenotype, all of which are characterised by th

66 al practice, especially in patients in which clinical phenotype alone is insufficient to identify the

67 The clinical phenotype and certain predisposing genetic muta

68 on tomographic (PET) imaging are linked with clinical phenotype and cortical atrophy in patients with

69 stent on the value of putative predictors of clinical phenotype and disease progression such as mutat

70 e traits lying on the causal chain between a clinical phenotype and etiology, can be used to accelera

71 e significantly influenced by the disorder's clinical phenotype and genotype.

72 We describe the clinical phenotype and histopathological changes of para

73 the subsequent seminal paper describing the clinical phenotype and immunotherapy treatment responsiv

74 f opsoclonus, ataxia, and chorea expands the clinical phenotype and indicates that GABAB receptor aut

75 stage or limited celiac disease, with a mild clinical phenotype and infrequent nutritional deficienci

76 ive nosology is needed that could inform the clinical phenotype and involvement of organs other than

77 milies, providing detailed insights into the clinical phenotype and natural history of BICD2 disease.

78 re closely associated with Alzheimer disease clinical phenotype and neurodegeneration pattern.

79 Clinical phenotype and outcome of FG+ HCM was similar to

80 However, the effect of BMPR2 mutations on clinical phenotype and outcomes remains uncertain.

81 small TP53 mutated subclones showed the same clinical phenotype and poor survival (hazard ratio = 2.0

82 genic drivers and powerfully associated with clinical phenotype and prognosis.

83 hways, play a role in observed variations in clinical phenotype and show that iPSCs can potentially b

84 On the basis of a combination of clinical phenotype and the highly specific assays, 66 AQ

85 disease (IBD) to determine disease location, clinical phenotype and the severity of disease in order

86 l structural anomalies and heterogeneous BBS clinical phenotypes and consequent oral comorbidities co

87 We aimed to characterise clinical phenotypes and genetic associations with APP an

88 age disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challe

89 , but these diseases have mutually exclusive clinical phenotypes and opposing immune mechanisms.

90 atic mutations are associated with different clinical phenotypes and outcomes.

91 st biorepositories that link human tissue to clinical phenotypes and outcomes.

92 analytic experiments for predicting various clinical phenotypes and outcomes.

93 athy in patients with cancer and address the clinical phenotypes and pathomechanisms of specific neur

94 ct operating pathways in relation to diverse clinical phenotypes and selection of the optimal therape

95 tanding of the molecular pathways that drive clinical phenotypes and that continue to inspire the sea

96 We discuss the complexity of clinical phenotypes and the importance of the social con

97 time, it is anticipated that delineation of clinical phenotypes and the underlying disease mechanism

98 sight into the relationship between observed clinical phenotypes and underlying genotypes.

99 hese unique fusion genes could be related to clinical phenotypes and warrant further study.

100 This index provides a tool for clinical phenotyping and assessment of therapeutic respo

101 and frequency of other etiologies using deep clinical phenotyping and next generation sequencing.

102 Among participants in the Clinical Phenotyping and Resource Biobank (C-PROBE) stud

103 ease onset as a continuous variable and sex, clinical phenotype, and early development of neurologica

104 -specific susceptibility, independent of the clinical phenotype, and the severity of pathology was du

105 imer's disease, presenting with a variety of clinical phenotypes, and 15 amyloid-beta-negative cognit

106 This core clinical phenotype appears frequently in the Amish, wher

107 hich genetic variation, gene expression, and clinical phenotypes are assessed in relevant tissues may

108 Clinical phenotypes are classified as follows: (1) acute

109 nearly 200 genes when bacteria from the two clinical phenotypes are compared.

110 provision of care across the spectrum of BBS clinical phenotypes are considered.

111 The major clinical phenotypes are expressed in the kidney with dil

112 were classified according to their pre-scan clinical phenotype as amnestic (memory predominant), non

113 Detailed clinical phenotypes as well as genetic and biochemical r

114 KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to char

115 LC25A4 mutations highlights a third distinct clinical phenotype associated with mutation of this gene

116 tochondria in the pathological processes and clinical phenotypes associated with a range of lung dise

117 The clinical phenotypes associated with COX deficiency inclu

118 nsing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation.

119 We expand the clinical phenotypes associated with known myopathy genes

120 Our study expands the clinical phenotypes associated with mutations in DGKE an

121 These data suggest that the clinical phenotypes associated with TRNT1 mutations are

122 In summary, the different clinical phenotypes associated with TUBB4A reflect the s

123 Other studies have emphasized the clinical phenotypes associated with variation or mutatio

124 4 replication populations with a total of 22 clinical phenotypes available, the composite phenotype A

125 Previously published clinical phenotype-based risk scores lost predictive val

126 To understand the drivers of clinical phenotypes better, here we use whole-genome seq

127 Different clinical phenotypes (bronchiolitis obliterans syndrome [

128 hat impaired RNA metabolism may underlie the clinical phenotype by fine tuning gene expression which

129 ut might be of little clinical value because clinical phenotypes can overlap in the same patient and

130 tous disease with regard to the cellular and clinical phenotype, careful evaluation of neutrophil fun

131 otein interaction networks, and standardized clinical phenotype coding, will drive the discovery of n

132 in cilia centrosomal genes cause pleiotropic clinical phenotypes, collectively called ciliopathies.

133 atologic and nonhematologic cells, a broader clinical phenotype could be postulated in G6PD-deficient

134 can overlap in the same patient and the same clinical phenotype could result from different biologica

135 ers and non-related controls, accompanied by clinical phenotype data about the patients.

136 s is the presenting feature of many discrete clinical phenotypes defined by different genetic causes.

137 These genetic data and similar clinical phenotypes demonstrate that the GC and GDD like

138 The clinical phenotypes derived from distinct genotypes can

139 letion of Gba2 significantly rescues the GD1 clinical phenotype, despite enhanced elevations in GL-1

140 pression affect risk for SLE susceptibility, clinical phenotype development, and production of autoan

141 but lower than controls, suggesting that the clinical phenotype differences are related to the IGHMBP

142 They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric c

143 proach to predict BBB permeability from drug clinical phenotypes (drug side effects and drug indicati

144 abolomics and lipidomics screening-e.g., for clinical phenotyping, drug screening and toxicity testin

145 myasthenic syndrome presenting with a broad clinical phenotype due to homozygous choline transporter

146 iated with particular, although overlapping, clinical phenotypes, each also including neuropsychiatri

147 The distinctive clinical phenotype, for which we propose the eponym Ayme

148 , and parasites that can produce overlapping clinical phenotypes, frequently delaying diagnosis and t

149 , would facilitate rapid characterization of clinical phenotypes from an electronic health record.

150 questionnaires assessing farm exposures and clinical phenotypes from birth until age 6 years were an

151 dy the genomes of 375 isolates with detailed clinical phenotypes from pigs and humans from the United

152 smoking and relate it to smoking-associated clinical phenotypes, gene expression, and lung inflammat

153 , null mutations were associated with severe clinical phenotypes (generalized pustular psoriasis, acu

154 RE1C mutations, functional activity, and the clinical phenotype has been observed.

155 correlation between GGCX genotypes and their clinical phenotypes has been previously unknown.

156 igenic targets have been discovered, and new clinical phenotypes have been recognized.

157 ationalise diagnosis of the full spectrum of clinical phenotypes have been reported.

158 etween phenotypes-in this case the two major clinical phenotypes (hypertrophic cardiomyopathy, HCM an

159 ing of 71 unrelated patients with comparable clinical phenotypes identified five additional families

160 he mutation precisely co-segregated with the clinical phenotype in all affected family members.

161 d allergen specificity could not justify the clinical phenotype in all children with PA and PS childr

162 ly shown to be associated with an aggressive clinical phenotype in cystic fibrosis.

163 t that ACTN3 R577X genotype is a modifier of clinical phenotype in DMD patients.

164 f prothrombotic mutations may ameliorate the clinical phenotype in hemophilia, we developed an RNA in

165 small fiber pathology may contribute to the clinical phenotype in painful diabetic neuropathy.

166 tic tests were explored for association with clinical phenotype in patients with EPP or XLP.

167 In retrospect, the clinical phenotype in the family is consistent with prev

168 isk of disease progression based on distinct clinical phenotypes in a large international cohort of p

169 levant allergens and (2) variation in asthma clinical phenotypes in asthmatic patients.

170 In a previous study, we described similar clinical phenotypes in CFS patients and alternatively di

171 We performed a GWAS of clinical phenotypes in Crohn's disease.

172 disease genes, but the frequency of related clinical phenotypes in unselected patient populations is

173 ion (AMI) may not accommodate the breadth of clinical phenotypes in young women.

174 iated to correlate genotype, laboratory, and clinical phenotypes including bleeding severity to impro

175 MEM16E) have been directly linked to several clinical phenotypes including limb-girdle muscular dystr

176 hodopsin gene cause retinal degeneration and clinical phenotypes including retinitis pigmentosa (RP)

177 eral disorders can present with this extreme clinical phenotype, including catastrophic antiphospholi

178 e recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a diso

179 even unrelated families that show a range of clinical phenotypes, including retinal degeneration, bra

180 -activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune de

181 edicine integrates biological (endotype) and clinical (phenotype) information for a more individualiz

182 way (ie, to dissect and stratify the complex clinical phenotype into more homogeneous subgroups based

183 e loss-of-function allele, expression of the clinical phenotype is associated with a common coding si

184 The clinical phenotype is associated with distal muscle weak

185 Results: The clinical phenotype is characterized by mild generalized

186 cardiac arrest survivors without a definite clinical phenotype is unclear.

187 the correlation between SCN9A genotypes and clinical phenotypes is still unclear.

188 Clinical phenotyping is currently used to guide pharmaco

189 These cellular and clinical phenotypes largely overlap those of HOIL-1-defi

190 r asthma, producing treatment responses in 6 clinical phenotypes: lung function, bronchodilator respo

191 collectively known as tauopathies, in which clinical phenotypes manifest as cognitive impairment, be

192 lative accuracy with which the composite and clinical phenotypes measure the endophenotype using trea

193 Using clinical phenotyping, metadata, and multimodal neuroimag

194 of plasma FXII accelerated the onset of the clinical phenotype; mice were affected with more severe

195 sylation of alpha-dystroglycan with variable clinical phenotypes, most commonly as limb-girdle muscul

196 case-control study of well-characterized SM clinical phenotypes nested within a longitudinal birth c

197 related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic fi

198 0 pediatric LTx recipients classified into 3 clinical phenotypes: nontolerant (n = 18) with de novo a

199 ovide a mechanism that leads to the distinct clinical phenotype observed in ADVIRC patients.

200 y of the mutant proteins correlates with the clinical phenotypes observed in patients.We defined the

201 characterised the frequency, the genetic and clinical phenotype of 107 index patients with mitochondr

202 redicts the molecular diagnosis based on the clinical phenotype of a patient has been developed to gu

203 The clinical phenotype of affected individuals is primarily

204 mal molecular species of cardiolipin and the clinical phenotype of Barth syndrome.

205 However, the morphologic clinical phenotype of CAKUT frequently does not indicate

206 We show that the clinical phenotype of cases referred to a national cente

207 ng criteria usefully broadens the recognised clinical phenotype of CBD but does not sufficiently impr

208 The relationship between clinical phenotype of childhood primary ciliary dyskines

209 mmune system and mechanistically predict the clinical phenotype of chronic BTK inhibition.

210 stic surrogates, and better characterise the clinical phenotype of disseminated TB.

211 within local circuits of hippocampus and the clinical phenotype of epilepsy.

212 The clinical phenotype of FG+ and G+ probands with HCM was s

213 Four FFPET cases with a clinical phenotype of heritable CV disorder were analyze

214 The clinical phenotype of indeterminate PALF shares importan

215 ral mutations that have little impact on the clinical phenotype of individual cases but will neverthe

216 ently described genomic disorder with a core clinical phenotype of intellectual disability, poor to a

217 ibed in isolated families, and broadened the clinical phenotype of known disease genes.

218 The clinical phenotype of KS includes moderate to severe int

219 ansport pathways, likely leading to the MVID clinical phenotype of neonatal secretory diarrhea.

220 study sought to determine the prevalence and clinical phenotype of PA in a large cohort of unselected

221 luence the natural history and heterogeneous clinical phenotype of Parkinson disease.

222 anti-BP180 IgE with disease activity and the clinical phenotype of patients with BP.

223 To compare the clinical phenotype of patients with conjunctival fibrosi

224 ed form of the protein does not underlie the clinical phenotype of patients with Naxos disease and in

225 The clinical phenotype of RPF is complex, because it can be

226 ently, Tob1 ablation in mice exacerbates the clinical phenotype of the MS model experimental autoimmu

227 Despite the consistent clinical phenotype of the respiratory disease, the under

228 Here, we present the genotype and clinical phenotype of these patients, prominently from c

229 The clinical phenotype of this group of childhood disorders

230 SCD, villous atrophy limited to D1), and the clinical phenotype of USCD.

231 The clinical phenotype of WAS includes susceptibility to inf

232 sults from dysregulated beta-amyloid 42, the clinical phenotypes of ADAD and LOAD should be similar w

233 he cluster analysis identified four distinct clinical phenotypes of asthma, including "Dust mite domi

234 In a GWAS, we associated 4 loci with clinical phenotypes of Crohn's disease.

235 ional innate immune response associated with clinical phenotypes of egg allergy.

236 on biologics for treating psoriasis-based on clinical phenotypes of inherent or acquired deficiencies

237 nalyzed for their frequency within different clinical phenotypes of liver injury and to identify asso

238 Three major clinical phenotypes of NSAID-induced acute skin reaction

239 The homozygous knock-in mice mimic the clinical phenotypes of RP, including progressive photore

240 Clinical phenotypes of spinocerebellar ataxia type-5 (SC

241 The clinical phenotypes of the five subjects varied widely,

242 The clinical phenotypes of the three individuals are strikin

243 ation of ciliopathy genes contributes to the clinical phenotypes of these CNVs.

244 We compare the clinical phenotypes of these patients with those of 56 p

245 ovide an explanation for similarities in the clinical phenotypes of WAS and DOCK8 deficiency.

246 However, utilization of genome sequencing in clinical phenotyping of bacteria is challenging due to t

247 g, there is no clear correlation between the clinical phenotype or penetrance, the type of genetic de

248 these disorders and in the modulation of IBD clinical phenotypes over time.

249 a diseases and may contribute importantly to clinical phenotypes, particularly in the frontotemporal

250 Clinical phenotypes range from localized tumours with ex

251 The clinical phenotype ranges from the classical presentatio

252 From the Clinical Phenotyping Resource and Biobank Core (CPROBE)

253 strate an association of these variants with clinical phenotypes responsive to peripheral sympathetic

254 iratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy pro

255 tribute to the wide range in the severity of clinical phenotypes seen in families transmitting mtDNA

256 systemically controls complement activation, clinical phenotypes selectively manifest in kidneys and

257 Accordingly, the following clinical phenotypes should be distinguished within the w

258 However, this falls within the clinical phenotype spectrum reported for heterozygous fe

259 e of their high area under the curve values, clinical phenotypes such as (recurrent) unremitting whee

260 ol for genetic evaluation of patients with a clinical phenotype suggestive of CMD, with muscle biopsy

261 ion is at odds with the highly stereotypical clinical phenotype, supporting differential roles for th

262 A multimodal clinical phenotype system has also been implemented to h

263 carrying 3 SMN2 copies but displaying milder clinical phenotypes than other patients with the same SM

264 the lack of FKBP22 shows a wider spectrum of clinical phenotypes than the absence of lysyl-hydroxylas

265 , India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, sponta

266 better understand and treat patients with a clinical phenotype that might be the direct result of, o

267 GATA6 haploinsufficiency and a wide range of clinical phenotypes that include neonatal and adult-onse

268 Asthma encompasses a variety of clinical phenotypes that involve distinct T cell-driven

269 nborn errors of metabolism, we combined deep clinical phenotyping (the comprehensive characterization

270 On the basis of clinical phenotype, the high allelic frequencies of LQT6

271 In atypical AD clinical phenotypes, the distribution of WM damage excee

272 e of a GGCX mutation resulting in 2 distinct clinical phenotypes; the established cell-based assay pr

273 pieces of evidence that, independent of the clinical phenotype, there is a common neurodegenerative

274 8 pediatric patients with well-characterized clinical phenotype to identify transcriptional features

275 a composite phenotype that combines multiple clinical phenotypes to measure corticosteroid responsive

276 development and function, (2) similarity of clinical phenotypes to mouse models, and (3) unbiased ge

277 The associations between clinical phenotypes (tumor grade, survival) and cell phe

278 mmary, we present a method for prediction of clinical phenotypes using baseline genome-wide expressio

279 modules were identified and correlated with clinical phenotypes using weighted gene coexpression net

280 osis of atypical Rett syndrome with a severe clinical phenotype was associated with higher prevalence

281 3 men; mean age 61.8 years), the underlying clinical phenotype was associated with the regional dist

282 e mutational effects on the AIF function and clinical phenotype was observed only for the G308E aberr

283 The clinical phenotype was typical CORD with photophobia, de

284 Linking these data to EHR-derived clinical phenotypes, we find clinical associations suppo

285 utions can produce such strikingly different clinical phenotypes, we studied these mutations using th

286 When both chemical features and clinical phenotypes were available, combining the two ty

287 Parallel clinical phenotypes were observed in the retinal pigment

288 Clinical phenotypes were well supported by LCA analysis.

289 cores (Harden, Urwin, and Harwood), based on clinical phenotype, were also evaluated.

290 ncy (n = 2), which produce similar "T-NK-B+" clinical phenotypes, were compared with normal BM and um

291 - a systemic sclerosis (SSc, or scleroderma) clinical phenotype which is the leading cause of morbidi

292 ctive autophagy could be involved in the RTT clinical phenotype, which introduces new molecular persp

293 s underlie several different immunologic and clinical phenotypes, which can be assigned to 2 distinct

294 antly exceeding the AUCs of the 6 individual clinical phenotypes, which ranged from 0.56 (P < .001) t

295 basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene seq

296 mprehensive functional phenotype integrating clinical phenotypes with genetic and nongenetic factors.

297 the i2b2 framework, which integrates patient clinical phenotypes with genomic variant profiles genera

298 ystems biology approach merging the numerous clinical phenotypes with robust (ie, relevant and valida

299 rchitectures of the PR interval and a set of clinical phenotypes would identify genetic mechanisms co

300 riants are frequently associated with severe clinical phenotypes, yet many are present in the genomes