ライフサイエンスコーパス: clinical phenotype

1 s and might help predict the severity of the clinical phenotype.

2 icity depending on the drug involved and the clinical phenotype.

3 is characterized by a distinctly aggressive clinical phenotype.

4 cillations that may underlie the more severe clinical phenotype.

5 peripheral demyelination as part of its core clinical phenotype.

6 a-93 and the association between lineage and clinical phenotype.

7 for managing ATTR amyloidosis, depending on clinical phenotype.

8 altered incubation times, or changes in the clinical phenotype.

9 variant type, age at symptom onset (AO), and clinical phenotype.

10 anisms through which viral variation affects clinical phenotype.

11 these relationships were not affected by the clinical phenotype.

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

13 during enamel development to ameliorate the clinical phenotype.

14 Relapsing fever is a common clinical phenotype.

15 utative links between Abeta conformation and clinical phenotype.

16 e thalassaemia, might further complicate the clinical phenotype.

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

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

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

20 We sought to further characterize its clinical phenotype.

21 ey cancer pathways associated with pertinent clinical phenotype.

22 ether these alterations were associated with clinical phenotype.

23 isciplinary team (MDT) in the context of the clinical phenotype.

24 tive value of 0.79 in comparison to observed clinical phenotypes.

25 d pathophysiology in a disorder with diverse clinical phenotypes.

26 utative disease subtypes that associate with clinical phenotypes.

27 years) and severity of the morphological and clinical phenotypes.

28 neuronal firing is responsible for distinct clinical phenotypes.

29 o) phenotypes with associated differences in clinical phenotypes.

30 y molecular signatures characteristic of its clinical phenotypes.

31 c differences, and for predicting behavioral/clinical phenotypes.

32 nd gain biological insight into molecular or clinical phenotypes.

33 The two phenotypes also produced distinct clinical phenotypes.

34 how this relates to the various painful DSP clinical phenotypes.

35 al, physiologic and inflammatory features of clinical phenotypes.

36 children with GATA1 mutations have DBA-like clinical phenotypes.

37 tested in the context of the above-mentioned clinical phenotypes.

38 fication of genetic variants associated with clinical phenotypes.

39 B patients and corresponded with specific TB clinical phenotypes.

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

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

42 ants closely correlated with the severity of clinical phenotypes.

43 repertoire sequence patterns associated with clinical phenotypes.

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

45 defects that closely match their respective clinical phenotypes.

46 ut-allergic individuals displaying different clinical phenotypes.

47 repair or replication underlie a variety of clinical phenotypes.

48 function with the associated and contrasting clinical phenotypes.

49 ifferent maturation stages and have distinct clinical phenotypes.

50 ession, which can be further used to predict clinical phenotypes.

51 turbations in channel function and divergent clinical phenotypes.

52 of defective adaptive immunity with diverse clinical phenotypes.

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

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

55 nce characteristics of each strategy against clinical phenotypes.

56 uit pathology to specific disease stages and clinical phenotypes.

57 that may partially explain their aggressive clinical phenotypes.

58 rotein do not necessarily present with overt clinical phenotypes.

59 Mediterranean basin and can present diverse clinical phenotypes.

60 lecular testing has expanded the spectrum of clinical phenotypes.

61 of driving mechanisms, pathophysiology, and clinical phenotypes.

62 s with asthma and correlated expression with clinical phenotypes.

63 to individual diseases, leading to differing clinical phenotypes.

64 e of immune-evading subclones and aggressive clinical phenotypes.

65 re reported to affect cognitive, imaging, or clinical phenotypes.

66 n receptor sequence patterns associated with clinical phenotypes.

67 , and the role of non-invasive biomarkers in clinical phenotyping.

68 d were followed prospectively with extensive clinical phenotyping.

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

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

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

72 ignificant relationships, of which 12 affect clinical phenotypes, 5 cooperatively associate with poor

73 Patients present with heterogeneous clinical phenotypes affecting heart, liver and skeletal

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

75 paired with surveillance biopsies and strict clinical phenotyping algorithms for discovery and valida

76 Regardless of clinical phenotype, all A-T participants exhibited downr

77 convergent ASD gene modules predicted shared clinical phenotypes among individuals with mutations in

78 n infertility is to study subjects with this clinical phenotype and a de novo balanced chromosomal ab

79 The clinical phenotype and biomarker independently and stati

80 can arise from a transdiagnostic approach to clinical phenotype and brain morphometry.

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

82 of biomarker specificity without sufficient clinical phenotype and endotype information contributes

83 odology can help to relate viral genetics to clinical phenotype and facilitate ongoing population-lev

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

85 ral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify d

86 This is the first report of the clinical phenotype and molecular basis associated to bas

87 utations, with detailed delineation of their clinical phenotype and molecular genetic features.

88 of POLE mutations into three groups based on clinical phenotype and mutagenicity.

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

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

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

92 The patient from Family 2 had a milder clinical phenotype and reduced exocytosis.

93 ositive patients to characterize further its clinical phenotype and response to treatment.

94 en reported and many questions regarding the clinical phenotype and results of ancillary investigatio

95 Association of different clinical phenotypes and (18)F-FDG PET/CT findings was in

96 r there was an association between different clinical phenotypes and (18)F-FDG PET/CT findings was in

97 xplain the heterogeneous spectra of COVID-19 clinical phenotypes and be useful in monitoring disease

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

99 mental factors may be important to determine clinical phenotypes and disease activity.

100 oroideremia can present with a wide range of clinical phenotypes and disease severity, from mild to s

101 ncer samples and cell lines along with their clinical phenotypes and drug response information.

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

103 selection and optimization-based on various clinical phenotypes and high-throughput metabolic profil

104 ish unequivocal correlations between patient clinical phenotypes and in vitro functional assays of un

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

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

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

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

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

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

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

112 s in multiple genes converge to generate one clinical phenotype, and, on the other, the evidence that

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

114 us and clinical heterogeneity of ARS-related clinical phenotypes, and further support impaired tRNA c

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

116 ients with PTEN variants and their impact on clinical phenotype are not well understood.

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

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

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

120 Fanconi Anemia (FA) clinical phenotypes are heterogenous and rely on a mutat

121 Detailed clinical phenotypes as well as genetic and biochemical r

122 ilia genes is challenging perceptions of the clinical phenotype, as some genes reported in the last 5

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

124 To better address the clinical phenotype associated with FANCI and the epistat

125 inally, we provide a characterization of the clinical phenotype associated with RRAS2 mutations.

126 This finding expands the clinical phenotypes associated with 16p11.2 microdeletio

127 1 and to characterize the expanding range of clinical phenotypes associated with heterozygous CARD11

128 There were 29 clinical phenotypes associated with the LV mass genetic

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

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

131 using on endotype biomarkers within specific clinical phenotypes, biomarkers in early COPD, exacerbat

132 Data were collected on clinical phenotype, body composition, lifestyle includin

133 rtant to recognize individual differences in clinical phenotype, both for clinical management and to

134 CD8(+) T and B cells that contribute to this clinical phenotype, but less is understood about the rol

135 variant interpretation and consider how the clinical phenotype can be combined with genetic, bioinfo

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

137 as a disorder associated with two different clinical phenotypes caused by defects in glycosylation.

138 y outcome measure was the difference between clinical phenotype clusters identified using clinical cr

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

140 ilability of genome sequence, molecular, and clinical phenotype data for large patient cohorts genera

141 , lifelong HAO1 knockout is safe and without clinical phenotype, de-risking a therapeutic approach an

142 f SLAMF7(+) PBMCs in HIV(+) individuals in a clinical phenotype-dependent manner, with discordant and

143 The clinical phenotypes derived from distinct genotypes can

144 The clinical phenotypes, disease courses and responses to tr

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

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

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

148 In order to make the diagnosis, however, the clinical phenotypes [e.g. Human Phenotype Ontology (HPO)

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

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

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

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

153 d intermediate AMD characterized by specific clinical phenotypes, genotype, functional characteristic

154 It remains essential that the clinical phenotype guides both antibody testing and clin

155 Variation in clinical phenotype has added to the challenge of detecti

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

157 geneity across aetiologies, neurobiology and clinical phenotypes have been observed in individuals wi

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

159 Biomarkers usually associated with worsening clinical phenotype (i.e., hyperphosphorylation and incre

160 genetic markers associated with the observed clinical phenotypes (i) invasive disease and (ii) asympt

161 phenome-wide association study assessing 106 clinical phenotypes identified abundant, significant gen

162 what degree flortaucipir and atrophy mirror clinical phenotype in Alzheimer's disease, and whether o

163 gi, in particular Aspergillus may impinge on clinical phenotype in asthma.

164 The reasons for the diverse clinical phenotype in betaTI are unknown.

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

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

167 e of this study was to describe the scope of clinical phenotype in female carriers with mutations in

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

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

170 understanding of the pathways underlying the clinical phenotype in some patients with major mental il

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

172 IL-6TS pathway activation and molecular and clinical phenotypes in asthmatic patients.

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

174 that can inform pathogenic mechanisms behind clinical phenotypes in COPD.

175 APOL1 and kidney disease across the range of clinical phenotypes in the APOL1 nephropathy spectrum.

176 to key coronary artery disease processes and clinical phenotypes in the STAGE individuals.

177 The complex clinical phenotype includes vascular anomalies and a rec

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

179 ecay of the mRNA leads to a wide spectrum of clinical phenotypes including progressive kyphoscoliosis

180 phenotyping'), many of them also provide non-clinical phenotypes, including putative endophenotypes,

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

182 A abundances are divergently associated with clinical phenotypes, including tumour subtypes and patie

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

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

185 Furthermore, we found a possible sub-clinical phenotype involving markedly shortened metacarp

186 The clinical phenotype is characterized by recurrent episode

187 Before the AMD clinical phenotype is present, those showing normal macu

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

189 E pathogenesis as it relates to the array of clinical phenotypes is needed.

190 Clinical phenotyping is currently used to guide pharmaco

191 y exists at the genotype, endophenotype, and clinical phenotype levels in cardiovascular diseases, a

192 ey cancer pathways associated with pertinent clinical phenotype may facilitate the design of novel th

193 Identification of distinct clinical phenotypes may allow more precise therapy and i

194 normal amyloid PET and the impaired group by clinical phenotype (mild cognitive impairment, amnestic

195 nd biochemical methods, the authors report a clinical phenotype nearly identical to the human conditi

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

199 ey transplant recipients represent differing clinical phenotypes occurring in distinct patient popula

200 Using cascade screening, we studied the clinical phenotype of 57 individuals from the 5 families

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

202 The clinical phenotype of affected individuals is primarily

203 American siblings who presented with a mild clinical phenotype of Alstrom syndrome were found to hav

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

205 uggest that, despite the age difference, the clinical phenotype of BP is not affected by preceding ne

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

207 atures that recapitulate the immunologic and clinical phenotype of CAPS.

208 ontext, uraemic cardiomyopathy describes the clinical phenotype of cardiac disease that accompanies C

209 Given the potential utility of frailty, a clinical phenotype of decreased physiologic reserve and

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

211 fect observed for IL-5R, consistent with the clinical phenotype of eosinophilia.

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 ollow-up visits; however, distinguishing the clinical phenotype of irritant and allergic contact derm

216 The clinical phenotype of KS includes moderate to severe int

217 tions yield novel insights into the specific clinical phenotype of MDS.

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

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

220 To compare the clinical phenotype of patients with conjunctival fibrosi

221 h the potential to correct the molecular and clinical phenotype of patients with epidermolysis bullos

222 ical paths that converge into an overlapping clinical phenotype of periodontal tissue destruction.

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

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

225 th no apparent family history and a variable clinical phenotype of widespread immune dysregulation: a

226 utpatient ALS clinic.Objectives: To identify clinical phenotypes of ALS respiratory progression based

227 milieu of the lung associates with distinct clinical phenotypes of COPD, including increased exacerb

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

229 individually based identification of diverse clinical phenotypes of FTLD on a neuropathological basis

230 ue to human neural cells and associated with clinical phenotypes of FXS and autism.

231 ons and intraocular inflammation as distinct clinical phenotypes of MFC and PIC.

232 al and/or maternal metabolic syndrome on the clinical phenotypes of offspring and the underlying gene

233 ociation study (PheWAS) was used to identify clinical phenotypes of patients with a polymorphism in c

234 sessment of LVEF to more accurately identify clinical phenotypes of patients with HF.

235 Given the many clinical phenotypes of PD, individualization of therapy

236 nt review is to highlight the mechanisms and clinical phenotypes of PH in HFpEF and HFrEF.

237 This would be consistent with the clinical phenotypes of skeletal fragility and oligodonti

238 The clinical phenotypes of the three individuals are strikin

239 However, the clinical phenotypes of UTI are heterogeneous and range f

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

241 sm has not been previously associated with a clinical phenotype or because it is a newly discovered o

242 Mutation location does not impact clinical phenotype or outcomes.

243 in former athletes demonstrating CTE-linked clinical phenotypes or symptoms as a means of improving

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

245 correlation in cross-sectional analysis with clinical phenotypes parallels the lack of association be

246 profiles, from genetic perturbations or from clinical phenotypes, provides additional information tha

247 The clinical phenotype ranges from the classical presentatio

248 ying genetic and molecular etiology of their clinical phenotype remains unknown.

249 omeric proteins can result in highly similar clinical phenotypes remains unknown.

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

251 atients with severe CKD (stage >=4) from the Clinical Phenotyping Resource and Biobank Core.

252 ofiles that may contribute to the aggressive clinical phenotypes seen in these patients.

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

254 Aligned with their clinical phenotype, SLT patients have an increased ratio

255 the predicted gene expressions could predict clinical phenotypes such as breast tumor status and estr

256 characteristic but genetically heterogenous clinical phenotypes, such as a Stargardt-like flecked fu

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

258 Along with a similar clinical phenotype, SUNCT and SUNA also display a simila

259 cer retention showed the highest fidelity to clinical phenotype, supporting the important causal role

260 Baseline tau uptake mapped better onto clinical phenotype than longitudinal tau and MRI measure

261 ients with EA+EoE+ exhibit a more severe EoE clinical phenotype than those with EA-EoE+ in terms of d

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

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

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

265 se results demonstrate the broad spectrum of clinical phenotypes that can be associated with a specif

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

267 ecessive mutations in NCAPG2 and overlapping clinical phenotypes that include severe neurodevelopment

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

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

270 vascular phenotype recapitulated that of the clinical phenotype, thereby supporting further evaluatio

271 o provide a validated measure of strength of clinical phenotype to be incorporated into the MYH7-ACMG

272 e is no understanding of the relationship of clinical phenotype to genotype.

273 8 pediatric patients with well-characterized clinical phenotype to identify transcriptional features

274 ability in individual cell types may dictate clinical phenotypes to a much greater extent than molecu

275 of comorbid factors that demonstrate similar clinical phenotypes to putative CTE.

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

277 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and

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

279 We defined baseline clinical phenotypes using hierarchical cluster analysis,

280 ing in-clinic hours, requiring more detailed clinical phenotyping using home tonometry, the results o

281 h HMN/CMT2 but in combination with different clinical phenotypes (VRK1 and PNKP), and in the SIGMAR1

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

283 3 men; mean age 61.8 years), the underlying clinical phenotype was associated with the regional dist

284 The clinical phenotype was purely myopathic, ranging from le

285 cular mechanisms behind the SNPs influencing clinical phenotypes was limited to the single gene linke

286 To translate postmortem information into clinical phenotypes, we identified polymorphisms predict

287 Using detailed clinical phenotyping, we find novel associations between

288 Novel clinical phenotypes were also observed, including reduce

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

290 is of data sets from patients with sepsis, 4 clinical phenotypes were identified that correlated with

291 Parallel clinical phenotypes were observed in the retinal pigment

292 and tests of the effects of risk variants on clinical phenotypes, were done using deep longitudinal c

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

294 lusters of eyes in the database with similar clinical phenotypes, which were then analyzed for betwee

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

296 anting caution when considering treatment in clinical phenotypes with RPD.

297 ecular diagnostic rate was determined by the clinical phenotype, with an overall rate of 49.2% for al

298 re also risks in establishing biomarkers for clinical phenotypes without an understanding of how they

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