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

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

2 random monoallelic expression when examining genotype-phenotype correlation.

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

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

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

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

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

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

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

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

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

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

13 This information should greatly facilitate genotype-phenotype correlation.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

34 ritable demyelinating neuropathies and their genotype-phenotype correlations.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

73 We studied genotype-phenotype correlations and compared visual prog

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

75 Although inconsistent genotype-phenotype correlations and doubts regarding the

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

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

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

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

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

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

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

83 1 mutation and/or AGS, investigate potential genotype-phenotype correlations, and begin to correlate

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

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

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

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

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

89 Genotype-phenotype correlations are not only important f

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

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

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

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

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

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

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

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

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

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

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

101 Although a genotype-phenotype correlation between the locations of

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

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

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

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

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

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

108 Genotype-phenotype correlations can often be traced to d

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

110 These strong genotype-phenotype correlations could potentially help i

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

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

113 Genotype-phenotype correlation demonstrated the presence

114 This genotype-phenotype correlation demonstrates that absence

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

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

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

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

119 A clear genotype/phenotype correlation emerged, stratifying OCT

120 The genotype-phenotype correlations emerging from these stud

121 Genotype-phenotype correlations exist for homozygous or

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

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

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

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

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

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

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

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

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

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

132 Clear genotype-phenotype correlations have been difficult to e

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

159 However, genotype-phenotype correlations in males with hemizygous

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

161 Trends in genotype-phenotype correlations in mitochondrial DNA mut

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

183 Genotype-phenotype correlations localized the region ass

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

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

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

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

188 Genotype-phenotype correlation of OCRL1 mutations associ

189 Genotype-phenotype correlations of AD are presented to p

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

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

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

193 Genotype-phenotype correlations of the IL6 or PRG4 gene

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

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

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

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

198 Genotype/phenotype correlations provide some guidance fo

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

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

201 However, these genotype-phenotype correlations remain incompletely char

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

203 Genotype-phenotype correlations show genes responsible f

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

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

206 Genotype-phenotype correlation studies show significant

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

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

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

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

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

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

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

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

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

216 Genotype-phenotype correlations suggested that homozygou

217 Genotype-phenotype correlations suggested that the natur

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

219 This genotype-phenotype correlation supports the existence of

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

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

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

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

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

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

226 This genotype-phenotype correlation underscores the importanc

227 Genotype-phenotype correlation was observed for the numb

228 A genotype-phenotype correlation was observed with the Arg

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

230 The genotype-phenotype correlation was performed by a genera

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

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

233 Genotype-phenotype correlations were attempted.

234 Novel genotype-phenotype correlations were established.

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

236 Genotype-phenotype correlations were made with individua

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

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

239 Genotype/phenotype correlations were investigated in pat

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

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

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

243 Despite a genotype-phenotype correlation with specific germline RE