ライフサイエンスコーパス: genotype-phenotype correlation

1 der phenotype, there seemed to be no obvious genotype-phenotype correlation.

2 delineation of this form of ARCA and provide genotype-phenotype correlation.

3 study results were strongly suggestive of a genotype-phenotype correlation.

4 se variants was characterized to explore the genotype-phenotype correlation.

5 l manifestations are variable, with no clear genotype-phenotype correlation.

6 went an ophthalmic evaluation to establish a genotype-phenotype correlation.

7 random monoallelic expression when examining genotype-phenotype correlation.

8 , and demonstrate for the first time a clear genotype-phenotype correlation.

9 ave also highlighted the challenges ahead in genotype-phenotype correlation.

10 tutions at the same mutation site suggests a genotype-phenotype correlation.

11 otypic variation of a single entity and lack genotype-phenotype correlation.

12 eshift/nonsense mutations, there was a clear genotype-phenotype correlation.

13 enital heart disease and provide examples of genotype-phenotype correlation.

14 ause tissue-specific tumors, with a striking genotype-phenotype correlation.

15 er data that will generate clinically useful genotype-phenotype correlation.

16 With limited exceptions, there is no genotype-phenotype correlation.

17 urological features do not show any specific genotype-phenotype correlation.

18 This information should greatly facilitate genotype-phenotype correlation.

19 We did not identify an obvious genotype-phenotype correlation.

20 patients from 19 families were analyzed for genotype-phenotype correlation.

21 this family cannot be explained by a strict genotype-phenotype correlation.

22 e length of the gene indicates a significant genotype-phenotype correlation.

23 te palmoplantar keratoderma, showing a clear genotype-phenotype correlation.

24 f clinical phenotypes demonstrating a strong genotype/phenotype correlation.

25 he hormonal phenotype--provided an excellent genotype/phenotype correlation.

26 rdiomyopathy cohorts have precluded detailed genotype-phenotype correlations.

27 ariable clinical expression with no emerging genotype-phenotype correlations.

28 werful tool to increase our understanding of genotype-phenotype correlations.

29 netic and non-genetic factors that influence genotype-phenotype correlations.

30 m, our study provides some new insights into genotype-phenotype correlations.

31 syndromic approach, new gene discoveries and genotype-phenotype correlations.

32 l model for exploring factors that influence genotype-phenotype correlations.

33 dical genetics is the accurate prediction of genotype-phenotype correlations.

34 ally needed data set of the full spectrum of genotype-phenotype correlations.

35 TS13 activity, blunting efforts to establish genotype-phenotype correlations.

36 en rise to a number of clinically meaningful genotype-phenotype correlations.

37 in congenital TTP and provide insights into genotype-phenotype correlations.

38 icroarrays have improved our ability to make genotype-phenotype correlations.

39 rogeneity and to establish whether there are genotype-phenotype correlations.

40 infancy to adulthood, with early evidence of genotype-phenotype correlations.

41 es provide a systematic means to investigate genotype-phenotype correlations.

42 and SMEI, suggesting possible, but complex, genotype-phenotype correlations.

43 Our results show no notch 3 genotype-phenotype correlations.

44 ritable demyelinating neuropathies and their genotype-phenotype correlations.

45 the formation of SMC(15)s, and to facilitate genotype-phenotype correlations.

46 grated approaches to study gene function and genotype-phenotype correlations.

47 In these families, we have made genotype-phenotype correlations.

48 se, a problem not easily explained by strict genotype-phenotype correlations.

49 ons was studied to evaluate the evidence for genotype-phenotype correlations.

50 tions of HNF-1alpha mutations did not reveal genotype-phenotype correlations.

51 ity of the disease has hindered the study of genotype-phenotype correlations.

52 d six sporadic cases with DD and investigate genotype-phenotype correlations.

53 s of NF2 mutations has revealed some general genotype-phenotype correlations.

54 ven this use is limited by uncertainty about genotype-phenotype correlations.

55 nt samples now permit accurate diagnosis and genotype-phenotype correlations.

56 novel disease genes, and provide much-needed genotype-phenotype correlations.

57 gene and the recurrent variants demonstrate genotype-phenotype correlations.

58 and primary cultured neurons revealed clear genotype-phenotype correlations.

59 th variant ataxia-telangiectasia and explore genotype-phenotype correlations.

60 arrants caution when making assertions about genotype-phenotype correlations.

61 early myoclonic encephalopathy) and evaluate genotype-phenotype correlations.

62 urther elucidate the disorder's etiology and genotype-phenotype correlations.

63 fy novel genetic causes of LVNC and describe genotype-phenotype correlations.

64 this critical gene is limited, with no clear genotype-phenotype correlations.

65 nazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations.

66 ctrum associated with KCNB1 variants and the genotype-phenotype correlations.

67 ypic variability was observed, with no clear genotype-phenotype correlations.

68 d for further network analysis to understand genotype-phenotype correlations.

69 l data were obtained on ALS participants for genotype/phenotype correlations.

70 ovide significant new insight regarding NPC1 genotype/phenotype correlations.

71 gene nomenclature; (3) producing consistent genotype/phenotype correlations.

72 enter cohort of 59 COQ8A patients, including genotype-phenotype correlations, 3D-protein modeling, in

73 By whole-genome SNP analysis of the genotype-phenotype correlation, a candidate region on ch

74 ak provides a molecular explanation for this genotype-phenotype correlation, adding another mechanism

75 Several clinically relevant genotype-phenotype correlations aid risk assessment and

76 rain defects, and the potential existence of genotype-phenotype correlations, all of which are contes

77 ands the BHD-mutation spectrum and evaluates genotype-phenotype correlations among families with BHD.

78 Here, we sought to describe genotype-phenotype correlations among patients with comb

79 Genotype-phenotype correlation analysis revealed that th

80 Age of onset, evolution of BCVA, genotype-phenotype correlations, anatomic characteristic

81 ext steps needed to obtain a full picture of genotype-phenotype correlation and apply these findings

82 es, our understanding of their pathogenesis, genotype-phenotype correlation and clonal evolution rema

83 Further, there is minimal genotype-phenotype correlation and despite recessive inh

84 This linkage disequilibrium allowed a genotype-phenotype correlation and direct determination

85 establishes a widely applicable platform for genotype-phenotype correlation and drug screening in any

86 ings will contribute to our understanding of genotype-phenotype correlation and mechanisms of disease

87 tients with this variant show a well-defined genotype-phenotype correlation and present with developm

88 post fertilization, indicating a more severe genotype-phenotype correlation and providing evidence of

89 d patients with lipoid proteinosis to extend genotype-phenotype correlation and to add to the mutatio

90 review von Hippel-Lindau molecular genetics, genotype-phenotype correlations and clinical classificat

91 We studied genotype-phenotype correlations and compared visual prog

92 Our data reveal striking genotype-phenotype correlations and demonstrate that dom

93 Although inconsistent genotype-phenotype correlations and doubts regarding the

94 roundwork for longitudinal studies to refine genotype-phenotype correlations and establish a natural

95 We aimed to characterize genotype-phenotype correlations and establish baseline c

96 complicates both sibling-based prognosis and genotype-phenotype correlations and has important implic

97 genic variant would help us establish future genotype-phenotype correlations and identify different p

98 heterozygous states to better understand the genotype-phenotype correlations and incomplete penetranc

99 d studies will be beneficial in establishing genotype-phenotype correlations and should lead to furth

100 By facilitating studies of OTCD genotype/phenotype correlation and drug screens, our mod

101 nding through work on structure/function and genotype/phenotype correlations and development of imagi

102 disease types 1 and 2, and further delineate genotype/phenotype correlations and functional domains w

103 We examined the prevalence, genotype-phenotype correlation, and natural history of l

104 emain regarding mechanisms of tumorigenesis, genotype-phenotype correlation, and therapeutic consider

105 and laboratory features, molecular genetics, genotype-phenotype correlation, and treatment.

106 o result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative

107 insight into disease penetrance, expression, genotype-phenotype correlations, and arrhythmic event ra

108 1 mutation and/or AGS, investigate potential genotype-phenotype correlations, and begin to correlate

109 done in terms of clinical disease severity, genotype-phenotype correlations, and body composition an

110 ations of our studies for genetic diagnosis, genotype-phenotype correlations, and gene-based therapy.

111 n about the natural history of the disorder, genotype-phenotype correlations, and the effects of symp

112 ation for therapeutic studies, generation of genotype-phenotype correlations, and the identification

113 New missense mutations, for which genotype-phenotype correlations are currently unknown, a

114 On the other hand, clear genotype-phenotype correlations are emerging in VHL dise

115 No clear genotype-phenotype correlations are found.

116 Genotype-phenotype correlations are not only important f

117 Detailed genotype-phenotype correlations, as presented in our stu

118 utation-positive cases are needed to discern genotype-phenotype correlations associated with calmodul

119 A genotype-phenotype correlation at the NF1 region 844-848

120 To better understand genotype-phenotype correlation at this important candida

121 Here, we discuss genotype-phenotype correlations at the BRCA1 locus in mo

122 y confined to the eye, with some interesting genotype-phenotype correlations being noted.

123 ions in the kinase domain, indicates a clear genotype-phenotype correlation between loss-of-function

124 Further, we identify a genotype-phenotype correlation between patients carrying

125 many gaps in knowledge exist in refining the genotype-phenotype correlation between PAX9 and tooth ag

126 For addressing the possibility of a genotype-phenotype correlation between podocin mutations

127 st relationship between birth cohort and the genotype-phenotype correlation between the FTO risk alle

128 Although a genotype-phenotype correlation between the locations of

129 ect the association further and to determine genotype-phenotype correlations between genetic variatio

130 , proof-of-concept studies have demonstrated genotype-phenotype correlations between specific IG germ

131 Based on the observed genotype-phenotype correlations between the different FT

132 e trained and tested on a public data set of genotype-phenotype correlations by 5-fold cross-validati

133 ere, we provide experimental proof for these genotype-phenotype correlations by demonstrating that no

134 Thus, a clear genotype--phenotype correlation can be recognized for EE

135 Genotype-phenotype correlations can often be traced to d

136 was performed in an attempt to determine if genotype-phenotype correlations could be made in this in

137 These strong genotype-phenotype correlations could potentially help i

138 We used human genotype-phenotype correlation data to develop a myotubu

139 Since the initial discovery, genotype-phenotype correlations, definition of Nod2 expr

140 Genotype-phenotype correlation demonstrated the presence

141 This genotype-phenotype correlation demonstrates that absence

142 l application of genetic analysis, guided by genotype-phenotype correlations derived from disease and

143 ound on both arms of the Y chromosome making genotype-phenotype correlations difficult for this gene

144 This consortium analysis suggests that genotype-phenotype correlations do exist and, if made re

145 Although some genotype-phenotype correlations do exist, other genetic

146 A clear genotype/phenotype correlation emerged, stratifying OCT

147 The genotype-phenotype correlations emerging from these stud

148 Genotype-phenotype correlations exist for homozygous or

149 However, a true genotype-phenotype correlation for BICD2 has not been pe

150 In order to establish a stronger genotype-phenotype correlation for clinical service in t

151 , thus expanding the mutational database and genotype-phenotype correlation for this rare disease.

152 guish them from benign variation and perform genotype-phenotype correlations for 99 BICD2 variant car

153 the challenges associated with establishing genotype-phenotype correlations for other disorders.

154 ese analyses will generate more insight into genotype-phenotype correlations for the different PID di

155 were reported, several attempts to establish genotype-phenotype correlations for this gene have been

156 In summary, we report a genotype/phenotype correlation for Bartter syndrome type

157 In an attempt to dissect genotype/phenotype correlations for the homologous regio

158 a yields fitness landscapes analogous to the genotype-phenotype correlations found in biological evol

159 Although there is some genotype-phenotype correlation, functional consequences

160 osomal dominant mutations in TCOF1, no clear genotype-phenotype correlation has been documented.

161 minant forms of non-syndromic deafness and a genotype-phenotype correlation has been reported in huma

162 A genotype-phenotype correlation has not yet been describe

163 Clear genotype-phenotype correlations have been difficult to e

164 ge number of patients have been reported, no genotype-phenotype correlations have been established fo

165 Thus, genotype-phenotype correlations have been reasonably wel

166 ate, only two clinically relevant intragenic genotype-phenotype correlations have been reported for N

167 These observations and genotype-phenotype correlations have led to the suggesti

168 Previously unrecognized genotype/phenotype correlations have been found among co

169 The lack of ample genotype-phenotype correlation hinders translational stu

170 Methods - We performed genotype / phenotype correlations in 132 PCD patients ca

171 To help dissect genotype--phenotype correlations in this complex syndrom

172 has shed some light to the uncertainties of genotype-phenotype correlation in NS, where several gene

173 hese results provide a preliminary basis for genotype-phenotype correlation in patients with deficien

174 This study suggests a novel genotype-phenotype correlation in TFP deficiency; that i

175 familial clinical variability and absence of genotype-phenotype correlation in the disease, suggestin

176 Our data support genotype-phenotype correlation in the setting of RAG2 de

177 These observations suggest the lack of genotype-phenotype correlation in this complex syndrome

178 h nephrotic syndrome (NS) and to determine a genotype-phenotype correlation in this disease.

179 To study genotype-phenotype correlation in this disorder, we have

180 ausing CACD and adds to our understanding of genotype-phenotype correlation in this heterogeneous gro

181 butes to define the genetic distribution and genotype-phenotype correlation in this rare form of CMT.

182 model in a recent meta-analysis, we examined genotype-phenotype correlation in three large Caucasian

183 This finding suggests a potential genotype-phenotype correlation in USH2 patients.

184 n homeostasis and contributes to the complex genotype-phenotype correlation in VHL disease.

185 This suggests a genotype-phenotype correlation in which hypomorphic alle

186 te, mutation analyses have suggested a broad genotype-phenotype correlation in which missense and non

187 deed, there appears to be an SV expressional genotype-phenotype correlation in which the SV expressio

188 We evaluated genotype-phenotype correlations in 1119 patients (945 fa

189 haracterization of genetic abnormalities and genotype-phenotype correlations in adult hepatocellular

190 Genotype-phenotype correlations in dilated cardiomyopath

191 Vhl(-/-) murine embryonic stem cells to test genotype-phenotype correlations in euploid cells.

192 odel for understanding general principles of genotype-phenotype correlations in human disease, as the

193 Identifying the molecular basis for genotype-phenotype correlations in human diseases has di

194 Using genotype-phenotype correlations in humans and Mafb-knock

195 n emphasizes hazards in evaluating potential genotype-phenotype correlations in individuals analyzed

196 fic cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2

197 However, genotype-phenotype correlations in males with hemizygous

198 vide insight into the molecular basis behind genotype-phenotype correlations in MCM3AP-associated dis

199 Improved understanding of genotype-phenotype correlations in MEN2, caused by a mut

200 Trends in genotype-phenotype correlations in mitochondrial DNA mut

201 Absence of genotype-phenotype correlations in patients with GKD ind

202 k was to investigate survival, dementia, and genotype-phenotype correlations in patients with Parkins

203 linical symptoms and to investigate possible genotype-phenotype correlations in patients with two typ

204 contribute to the difficulty in interpreting genotype-phenotype correlations in this disorder.

205 r studies provide a biochemical insight into genotype-phenotype correlations in this group of disorde

206 Association mapping involves searching for genotype-phenotype correlations in unrelated individuals

207 ocytoma, respectively, the precise basis for genotype-phenotype correlations in VHL disease have not

208 In this description of a genotype/phenotype correlation in CD patients and NOD2 v

209 These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11

210 To facilitate further refinement of genotype/phenotype correlations in DEB, we have examined

211 utational analysis of extreme phenotypes and genotype/phenotype correlations in samples from African

212 otein, the mechanisms underlying the complex genotype/phenotype correlations in VHL disease remain un

213 To establish a genotype-phenotype correlation, individuals who were hom

214 We discuss the emergence of genotype-phenotype correlations, insights gleaned into t

215 Nevertheless, this genotype-phenotype correlation is based on the analysis

216 , and common challenges in data analysis and genotype-phenotype correlation is essential if pathologi

217 A clear genotype-phenotype correlation is often not available, w

218 Furthermore, genotype-phenotype correlation is reported in a large ad

219 LN7 gene have been reported, no data about a genotype/phenotype correlation is available.

220 ten lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish

221 Knowledge about this genotype/phenotype correlation is relevant to adjusting

222 ue in using RNA interference for identifying genotype/phenotype correlations is the uniformity of gen

223 le domains including statistical evidence of genotype-phenotype correlation, known pathways in the pa

224 Genotype-phenotype correlations localized the region ass

225 Further study of genotype/phenotype correlations may yield useful informa

226 This finding, which may represent a new genotype-phenotype correlation, merits further study.

227 the appropriate treatment plan for, accurate genotype-phenotype correlation of and a better understan

228 TOF patients and to further investigate the genotype-phenotype correlation of NKX2.5 mutations, we g

229 Genotype-phenotype correlation of OCRL1 mutations associ

230 Genotype-phenotype correlations of AD are presented to p

231 trum, study levels of mosaicism and identify genotype-phenotype correlations of AKT3-related disorder

232 Here we describe the genotype-phenotype correlations of diseases caused by va

233 Genotype-phenotype correlations of humans and dogs with

234 story, management of KUT manifestations, and genotype-phenotype correlations of intermediate JEB.

235 s our report contributes to the knowledge of genotype-phenotype correlations of PLP1-related disorder

236 Genotype-phenotype correlations of the IL6 or PRG4 gene

237 However, the genotype/phenotype correlation of the subgroups remains

238 l variability, determinants of severity, and genotype/phenotype correlations of these diseases are no

239 knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, pathophysiology and tre

240 This lack of genotype-phenotype correlation prompted us to directly t

241 Genotype/phenotype correlations provide some guidance fo

242 Genotype-phenotype correlations regarding the penetrance

243 Furthermore, these direct genotype-phenotype correlations reinforce the importance

244 ed with striking dysmorphic features, making genotype-phenotype correlations relatively straightforwa

245 However, these genotype-phenotype correlations remain incompletely char

246 Interestingly, analysis of genotype-phenotype correlations revealed that mutations

247 Genotype-phenotype correlations show genes responsible f

248 Genotype-phenotype correlations showed that most of the

249 The RET allelic series, and its genotype-phenotype correlations, shows that success in v

250 Over the past decade, scores of genotype-phenotype correlation studies in both hypertrop

251 Genotype-phenotype correlation studies show significant

252 In classic Rett syndrome, genotype-phenotype correlation studies suggest that X ch

253 Genotype-phenotype correlation studies were carried out

254 n of the causal gene mutation and additional genotype-phenotype correlation studies will provide fund

255 ility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduc

256 echanisms in CNV mutagenesis, and facilitate genotype-phenotype correlation studies.

257 h functional analyses in model organisms and genotype-phenotype correlation studies.

258 In order to do this, detailed genotype/phenotype correlation studies are required.

259 performed mutational analysis followed by a genotype-phenotype correlation study based on the clinic

260 utations allowing us to undertake a detailed genotype-phenotype correlation study.

261 otypes to genotypes using publicly available genotype-phenotype correlations such as expression quant

262 Genotype-phenotype correlations suggested that homozygou

263 Genotype-phenotype correlations suggested that the natur

264 Recent studies have begun to reveal rare genotype-phenotype correlations, suggesting that the spe

265 This genotype-phenotype correlation supports the existence of

266 and, specifically, the inclusion of parental genotype-phenotype correlation terms in association test

267 oncluded that the knockdown resistance (kdr) genotype-phenotype correlation that is observed in a wid

268 Our study provides important data on the genotype-phenotype correlation that is relevant for the

269 This study emphasizes the complex genotype-phenotype correlations that exist for SCN9A and

270 t genetic studies have demonstrated specific genotype-phenotype correlations that provide the first m

271 There are limited data on genotype-phenotype correlation; there is no consensus on

272 ongitudinal analyses were conducted to study genotype-phenotype correlations, to calculate longitudin

273 ation database allows further development of genotype/phenotype correlations towards understanding th

274 king clinical interpretation problematic and genotype-phenotype correlations uncertain.

275 This genotype-phenotype correlation underscores the importanc

276 thogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evalu

277 Genotype-phenotype correlation was observed for the numb

278 A genotype-phenotype correlation was observed with the Arg

279 A strong genotype-phenotype correlation was observed with two dis

280 Moreover, a genotype-phenotype correlation was observed, because the

281 An emerging genotype-phenotype correlation was observed.

282 The genotype-phenotype correlation was performed by a genera

283 Exploring genotype-phenotype correlations, we found that disease s

284 and to gain information related to possible genotype/phenotype correlations, we have identified 2 EN

285 Using a statistical method to examine genotype/phenotype correlations, we mapped one or more T

286 Genotype-phenotype correlations were attempted.

287 Lastly, detailed genotype-phenotype correlations were carried out to assi

288 Novel genotype-phenotype correlations were established.

289 ned with previously published mutations, two genotype-phenotype correlations were evident.

290 Genotype-phenotype correlations were made with individua

291 pretations that required predefined specific genotype-phenotype correlations were possible only by ma

292 Data on other specific genotype-phenotype correlations were scarce.

293 novel mutations were found, and several new genotype/phenotype correlations were identified.

294 Genotype/phenotype correlations were investigated in pat

295 tic studies are needed to gain insights into genotype-phenotype correlations, which will in turn impr

296 Establishing more robust genotype-phenotype correlations will advance knowledge o

297 S) is to balance the statistical evidence of genotype-phenotype correlation with a priori evidence of

298 Despite a genotype-phenotype correlation with specific germline RE

299 We have assessed genotype-phenotype correlations with nine progressive me

300 Our study reveals a genotype-phenotype correlation within the FA-B complemen