ライフサイエンスコーパス: molecular diagnosis

1 utation screening as a reliable approach for molecular diagnosis.

2 patients with an IPD still do not receive a molecular diagnosis.

3 t most individuals with DRS remain without a molecular diagnosis.

4 tages and the most specific and sensitive is molecular diagnosis.

5 50% of individuals affected by PFBC have no molecular diagnosis.

6 ses of isolated CAKUT still remain without a molecular diagnosis.

7 g should be the primary line of pursuit of a molecular diagnosis.

8 onal diagnostic testing failed to identify a molecular diagnosis.

9 in genes for very rare disorders, enabling a molecular diagnosis.

10 and focus on screening the NR2E3 gene for a molecular diagnosis.

11 tigations without ever reaching a conclusive molecular diagnosis.

12 opinion to maximise the chance of reaching a molecular diagnosis.

13 one, leaving 2/21 families (9.5%) without a molecular diagnosis.

14 nal biomaterials, biosensors, and biomedical molecular diagnosis.

15 We aimed to establish his molecular diagnosis.

16 ing uncertainty with an unclear clinical and molecular diagnosis.

17 tive, robust, and efficient strategy for RTT molecular diagnosis.

18 ns that challenge both genetic discovery and molecular diagnosis.

19 most commonly reported among probands with a molecular diagnosis.

20 ness, was investigated in families lacking a molecular diagnosis.

21 has been applied to next-generation accurate molecular diagnosis.

22 etic component to disease, many cases lack a molecular diagnosis.

23 suspected Mendelian condition lack a precise molecular diagnosis.

24 the last decades, ~55% of cases still lack a molecular diagnosis.

25 families still have not received a definite molecular diagnosis.

26 cant proportion of probands remain without a molecular diagnosis.

27 disease dataset from 134 individuals with a molecular diagnosis.

28 EC61A1, 25 to 50% of families remain without molecular diagnosis.

29 er, a significant portion of patients lack a molecular diagnosis.

30 talized infants against the gold standard of molecular diagnosis.

31 e majority of individuals still lack a clear molecular diagnosis.

32 es, but many patients still remain without a molecular diagnosis.

33 vious arterial events or arterial lesions at molecular diagnosis.

34 Sanger sequencing was performed for molecular diagnosis.

35 and peptides are promising alternatives for molecular diagnosis.

36 d serum was initially solely recommended for molecular diagnosis.

37 ains one of the biggest challenges in modern molecular diagnosis.

38 respiratory sample will be collected for RSV molecular diagnosis.

39 ung age at diagnosis suggests the underlying molecular diagnosis.

40 h attention for making accurate decisions on molecular diagnosis.

41 = 59) of these patients received a probable molecular diagnosis.

42 an array of biomarkers in order to assign a molecular diagnosis.

43 Of 504 patients with a molecular diagnosis, 23 (4.6%) had blended phenotypes re

44 9; odds ratio, 2.3; 95% CI, 1.22-4.32) and a molecular diagnosis (55 of 176 [31.0%; 95% CI, 24.5%-38.

45 .8% of patients (n = 67) received a probable molecular diagnosis; 7.5% (n = 5) of these had autosomal

46 ian or monogenic condition receive a precise molecular diagnosis after comprehensive clinical genetic

47 All patients included had not received a molecular diagnosis after extensive genetic prescreening

48 whether children or adults, do not receive a molecular diagnosis after initial diagnostic workup.

49 tely 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluatio

50 than 50% of rare disease patients receive a molecular diagnosis after whole genome sequencing.

51 20 on 15,873 clinical samples, indicate that molecular diagnosis allowed for identification of 13 inf

52 An exact molecular diagnosis allows genetic counseling and the id

53 orty-two patients with BVMD (42 eyes) with a molecular diagnosis and 42 NCs (42 eyes) were included.

54 In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a

55 for its implementation and the high cost of molecular diagnosis and biological treatment.

56 will result in a new paradigm for ultrafast molecular diagnosis and can facilitate NA-based nearly i

57 wide variety of clinical settings, including molecular diagnosis and classification.

58 clinically selected cases to enable accurate molecular diagnosis and counsel patients and their famil

59 nderlies f-PCT, and permitted presymptomatic molecular diagnosis and counseling in these families to

60 rolled and that the frequency of achieving a molecular diagnosis and distribution of the CMT subtypes

61 his field will facilitate new approaches for molecular diagnosis and drug discovery.

62 need to be resolved to facilitate definitive molecular diagnosis and genetic counseling.

63 nterpreting variants continue to hinder both molecular diagnosis and genetic research in IRDs.

64 e, indicating its immediate applicability to molecular diagnosis and genetic research.

65 Molecular diagnosis and improvements in retinal imaging

66 the use of genome-based approaches to inform molecular diagnosis and individual-level treatment regim

67 ano-info convergence holds great promise for molecular diagnosis and individualized therapy of cancer

68 roviding a basis for future studies aimed at molecular diagnosis and novel therapeutics.

69 with hereditary hemochromatosis, has allowed molecular diagnosis and paved the way for identification

70 leukemia and to provide novel insights into molecular diagnosis and potential markers for risk strat

71 This knowledge has allowed molecular diagnosis and presymptomatic DNA-based testing

72 e 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve

73 trum is important for making a final clinico-molecular diagnosis and providing accurate genetic couns

74 ctive cancer prevention is based on accurate molecular diagnosis and results of genetic family screen

75 tients for validation were selected from the Molecular Diagnosis and Risk Stratification of Sepsis st

76 patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and ca

77 The study examined the clinical utility of a molecular diagnosis and the cost-effectiveness of altern

78 or the selection of allergen panels used for molecular diagnosis and the interpretation of clinical s

79 (SP-PCR) has become increasingly popular for molecular diagnosis and there have been a few attempts t

80 aging agents and their potential role in the molecular diagnosis and treatment of cancer.

81 ons in the development of carcinomas and the molecular diagnosis and treatment of prostate cancer.

82 kidney injury is part of an evolution in the molecular diagnosis and understanding of acute kidney in

83 ng is a superior genomic method for clinical molecular diagnosis and/or prognosis.

84 applications in signaling network analysis, molecular diagnosis, and cellular targeted therapies.

85 tic abnormalities other than translocations, molecular diagnosis, and molecular profiling of gene exp

86 ilepsy who had previously been refractory to molecular diagnosis, and their parents.

87 curacy of BN test results were compared with molecular diagnosis as reference standard.

88 individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disord

89 ing algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a

90 which is of great benefit to not only tumor molecular diagnosis but also drug development.

91 and quantitative one-pot CRISPR-Cas12a based molecular diagnosis by taking advantage of density diffe

92 quencing, for the large majority of cases no molecular diagnosis can be established.

93 e and transcriptome analyses, we showed that molecular diagnosis can potentially elucidate mechanisms

94 A positive genetic test offers a precise molecular diagnosis, can help members of an affected fam

95 predisposing genes facilitates gene-informed molecular diagnosis, cancer risk assessment and gene-spe

96 A total of 138 patients received a molecular diagnosis consistent with primary HLH.

97 Although provision of a molecular diagnosis could have important implications fo

98 A definitive molecular diagnosis could not be achieved in these child

99 The molecular diagnosis derived from mass-spectrometry imagi

100 This represents the first molecular diagnosis during early pregnancy of a human gl

101 Establishing a molecular diagnosis enables early immune reconstitution

102 ive, simple, and swift biotechniques benefit molecular diagnosis, evaluation of disease stages, and a

103 ients can be matched to others with the same molecular diagnosis even when the disorder was not inclu

104 Prenatal molecular diagnosis facilitates anticipatory planning fo

105 A (likely) molecular diagnosis for (part) of the immunological phen

106 ormed Next-generation sequencing (NGS) based molecular diagnosis for 105 Retinitis Pigmentosa (RP) pa

107 Whole-exome sequencing provided a potential molecular diagnosis for 25% of a large cohort of patient

108 ase research to develop a means of achieving molecular diagnosis for all rare diseases.

109 An integrated microfluidic system capable of molecular diagnosis for detecting live bacteria was repo

110 WES also yielded a molecular diagnosis for four out of nine individuals wit

111 uclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinc

112 The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum

113 rvations underscore the importance of timely molecular diagnosis for predicting prognosis and early c

114 may be medical benefits in an early accurate molecular diagnosis for targeted disease monitoring and

115 Our data delineate a molecular diagnosis for this disorder, extend the clinic

116 for patients without a previously identified molecular diagnosis from clinical evaluation or a resear

117 nds, 24 (9.3%, 95%CI, 6.1%-13.5%) received a molecular diagnosis from CMA and 8 of 95 (8.4%, 95%CI, 3

118 A molecular diagnosis from the analysis of sequencing data

119 Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A,

120 Molecular diagnosis has been achieved in 7 of 10 familie

121 A molecular diagnosis has been reported for 894 index pati

122 The potential use of plasma and serum for molecular diagnosis has generated interest.

123 Molecular diagnosis has historically been confined to se

124 Advances in modern molecular diagnosis have expanded our knowledge of genot

125 This study shows that molecular diagnosis helps in precise diagnosis of CN1 an

126 yposis manifestation could be explained by a molecular diagnosis; however, the molecular etiology in

127 nted hepatic AGT deficiency, suggests that a molecular diagnosis (identification of two disease allel

128 We defined the likely molecular diagnosis in 14 of 22 families (64%).

129 ons in 14 of 30 analyzed genes, leading to a molecular diagnosis in 14.9% (40 of 268) of all cases; 2

130 WGS enabled molecular diagnosis in 3 families after prior negative S

131 d with disease phenotype, revealing a likely molecular diagnosis in 31% of this cohort.

132 Critical trio exome sequencing revealed a molecular diagnosis in 32 of 63 infants (50.8%) at a mea

133 ilies with DWM or CBLH, and we established a molecular diagnosis in 36 of 100 families, with a signif

134 additional family members, we established a molecular diagnosis in 5 out of 20 families (25%) who re

135 Overall, we established a molecular diagnosis in 63/197 (32%) individuals in our W

136 Multigene panel testing pointed to a molecular diagnosis in 84.7% of children with IRD.

137 e genetic disorder(2,3), yielding a complete molecular diagnosis in almost all individuals.

138 42 of 126 patients (33.3%) on the basis of a molecular diagnosis in blood-derived DNA (n = 26), norma

139 Each GST is needed for accurate molecular diagnosis in different geographic areas.

140 imaging presented here should facilitate the molecular diagnosis in further families.

141 ic mutations in KCNJ13 should facilitate the molecular diagnosis in further families.

142 was efficient, cost-effective, and enabled a molecular diagnosis in many refractory cases.

143 s have refined our ability to make a precise molecular diagnosis in muscle channelopathies.

144 In conclusion, in addition to improving molecular diagnosis in NDDs, this technique may also rev

145 gs could have important implications for the molecular diagnosis in patients with isolated SMCP and/o

146 Molecular diagnosis in patients with pet allergy may als

147 To perform rapid molecular diagnosis in resource-limited settings, simple

148 Collectively, the integration of a molecular diagnosis in the clinical evaluation of patien

149 sting, thus demonstrating the feasibility of molecular diagnosis in the Comel-Netherton syndrome.

150 in America and provide a basis for possible molecular diagnosis in this population.

151 A molecular diagnosis, including previously undescribed ge

152 hronic sporadic neuropathy, we conclude that molecular diagnosis is a necessary adjunct for clinical

153 A molecular diagnosis is achieved in up to 95% of cases, t

154 senting with early-onset diabetes, a precise molecular diagnosis is an increasingly important element

155 ssue sarcomas in children has increased, and molecular diagnosis is becoming established.

156 d to screen for many of these disorders, and molecular diagnosis is becoming more widely available in

157 Finding a molecular diagnosis is challenging but can have profound

158 The value of molecular diagnosis is illustrated.

159 However, a molecular diagnosis is made in only 30% of cases.

160 widely available but have limitations and a molecular diagnosis is not made in most suspected cases.

161 nically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients.

162 lives of patients, yet the present benchtop molecular diagnosis is time-consuming and labor-intensiv

163 Molecular diagnosis is unknown in many cases of CH and C

164 An accurate molecular diagnosis is, however, crucial for predicting

165 d suggest that direct mutation screening for molecular diagnosis may require gene sequencing.

166 e aim of this study was to determine whether molecular diagnosis (MD) may change indication and aller

167 ration sequencing did not yield a definitive molecular diagnosis nor significant tissue differences.

168 ng is efficient and sufficiently precise for molecular diagnosis of a highly heterogeneous patient co

169 carried a rare variant that contributes to a molecular diagnosis of a monogenic disorder - 53 of 1850

170 We describe how molecular diagnosis of a rare, fatal neurodegenerative c

171 The oculome enabled molecular diagnosis of a significant number of cases in

172 thogenicity, making a critical impact on the molecular diagnosis of Alagille syndrome.

173 G MRS were established to make a presumptive molecular diagnosis of an IDH mutation in gliomas techni

174 y selected based on clinical cytogenetic and molecular diagnosis of AS.

175 romising tool for discovery of autoantigens, molecular diagnosis of autoimmune diseases, and developm

176 species from whole blood sample for enhanced molecular diagnosis of bloodstream Candida infection and

177 rification method for significantly improved molecular diagnosis of bloodstream Candida infection.

178 Among 28 of the patients with a molecular diagnosis of Burkitt's lymphoma, the overall s

179 Case reports on the post-mortem molecular diagnosis of cardiac channelopathies through t

180 sed on NGS allows for a detailed and precise molecular diagnosis of CCA and provides an important opp

181 Molecular diagnosis of CDA is now possible in most patie

182 experimentally verified) that completed the molecular diagnosis of CF in 6 of 14 individuals.

183 hway in human development and will provide a molecular diagnosis of CFC syndrome.

184 These findings will improve the molecular diagnosis of congenital myopathies and implica

185 site is essential for a prompt and accurate molecular diagnosis of COVID-19.

186 ed colorimetric test for rapid and naked-eye molecular diagnosis of COVID-19.

187 f oligonucleotide-gold nanoparticles for the molecular diagnosis of cryptosporidiosis, offering new o

188 , and may lend a novel way of making a rapid molecular diagnosis of CS without mutation analysis.

189 lengthen the period during which a confirmed molecular diagnosis of DENV infection can be provided.

190 ed rectal swabs significantly facilitate the molecular diagnosis of diarrheal disease in children.

191 iagnostic screening system to streamline the molecular diagnosis of diffuse gliomas.

192 be a suitable clinical imaging agent for the molecular diagnosis of disorders of the pulmonary circul

193 c merit and predictive medicine capacity for molecular diagnosis of EoE.

194 We describe here a strategy for efficient molecular diagnosis of FA.

195 r, these data demonstrate the utility of the molecular diagnosis of filarial infections in mobile pop

196 om onset prior to or in conjunction with the molecular diagnosis of GATA2 deficiency.

197 rphism (SNP) markers are being developed for molecular diagnosis of genetic disorders and large-scale

198 ccurate algorithm is essential for effective molecular diagnosis of hereditary colorectal cancer (CRC

199 Finally, our ability to make a molecular diagnosis of hereditary hemochromatosis has ca

200 s technology can thereby facilitate accurate molecular diagnosis of heterogeneous cancer specimens an

201 Our results strongly indicate that for molecular diagnosis of heterogeneous disorders such as N

202 Establishing the molecular diagnosis of HIES is important for optimal pat

203 These findings expand the molecular diagnosis of HPS, provide a screening method f

204 human populations, rapid point-of-care (POC) molecular diagnosis of human and plant diseases play an

205 The importance of these results for the molecular diagnosis of human granulocytic ehrlichiosis i

206 the selection of drugs for therapy based on molecular diagnosis of individual tumors.

207 Identification of these variants confirmed a molecular diagnosis of IRD for 11 of the 33 individuals

208 of structural variants (SVs) to settling the molecular diagnosis of IRD with whole-genome sequencing

209 In this study, we investigate molecular diagnosis of KS performed in a point-of-care d

210 nd p53gamma, are not fully considered in the molecular diagnosis of Li-Fraumeni syndrome and cancer.

211 e "private" or "family-specific" complicates molecular diagnosis of LQTS which, currently, is limited

212 Molecular diagnosis of malaria offers many potential adv

213 the way for further functional analysis and molecular diagnosis of male infertility.

214 action (RT-PCR) is the gold standard for the molecular diagnosis of many infectious diseases, includi

215 Among the 307 patients with a molecular diagnosis of MgD, 55 (17.9%) had a mutation in

216 Molecular diagnosis of mitochondrial disorders is challe

217 hi o 2 serves as a candidate antigen for the molecular diagnosis of mold allergy, and determination o

218 We report a family ascertained for molecular diagnosis of muscular dystrophy in a young gir

219 Requests for direct molecular diagnosis of mycobacterial disease are increas

220 To expedite the molecular diagnosis of NMDs, we designed and validated s

221 Molecular diagnosis of Nocardia species was performed us

222 ensing approach is a significant step toward molecular diagnosis of Parkinson's disease.

223 By establishing an expeditious molecular diagnosis of patients with the complement-depe

224 ncing can be an effective tool to aid in the molecular diagnosis of pediatric-onset IBD.

225 The molecular diagnosis of PMBL should significantly aid in

226 pression profiling to develop a more precise molecular diagnosis of PMBL.

227 expression test is rapid and reliable in the molecular diagnosis of Prader-Willi syndrome.

228 als with germline PTEN mutations receive the molecular diagnosis of PTEN Hamartoma Tumor Syndrome (PH

229 Molecular diagnosis of rejection is emerging in kidney,

230 Molecular diagnosis of skeletal dysplasias is complicate

231 Molecular diagnosis of specific target bacteria DNA sequ

232 Although the intraoperative molecular diagnosis of the approximately 100 known brain

233 XLHED families studied suggests that direct molecular diagnosis of the disorder is feasible.

234 sult is of particular importance because the molecular diagnosis of these patients is primarily based

235 The earliest molecular diagnosis of these patients is required to ado

236 (LAMP) assay to facilitate rapid inexpensive molecular diagnosis of this disease.

237 se findings will allow accurate clinical and molecular diagnosis of this subset of common birthmarks,

238 A definite molecular diagnosis of thyroid dyshormonogenesis allows

239 rt a 45-year-old patient with a clinical and molecular diagnosis of TSC and a family history of cance

240 A "molecular diagnosis of UIP" in transbronchial lung biops

241 DNA methylation analysis can facilitate the molecular diagnosis of unresolved clinical cases and hig

242 om clinical samples is a crucial step in the molecular diagnosis of viral infections by nucleic acid

243 s referred to our international registry for molecular diagnosis of Werner's syndrome, 26 (20%) had w

244 vel mutation on ZAP70 and the first prenatal molecular diagnosis of ZAP70 deficiency.

245 These changes facilitated more extensive molecular diagnosis of ZKV, reducing reliance on time-co

246 wheat food allergen that can be used for the molecular diagnosis of, and for the development of speci

247 Before her molecular diagnosis, our patient underwent hematopoietic

248 Infants < 1 year were less likely to have a molecular diagnosis (p < 0.001).

249 say attractive for potential applications in molecular diagnosis, point-of-care testing, and on-site

250 skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substanti

251 mutations less than 10% of the time, making molecular diagnosis, prediction, genetic counseling, and

252 opportunities for improved risk assessment, molecular diagnosis, preventive, and therapeutic interve

253 Ascertainment of a molecular diagnosis provided targetable treatment option

254 The application of NGS in IRD clinical molecular diagnosis provides a powerful approach to expl

255 The molecular diagnosis rate for trio-CES was 31% (127 of 41

256 Of the 814 cases, the overall molecular diagnosis rate was 26% (213 of 814; 95% CI, 23

257 l delay in children (<5 years, n = 138), the molecular diagnosis rate was 41% (45 of 109; 95% CI, 32%

258 Molecular diagnosis rates for each phenotypic category w

259 , but for the giant nebulin and titin genes, molecular diagnosis remains difficult.

260 , and expensive reagents for serological and molecular diagnosis respectively.

261 Nucleic acid-based molecular diagnosis reveals valuable information at the

262 fferent disease cohorts where 7.1-11% of the molecular diagnosis solved rate was attributed to CNVs.

263 Upon molecular diagnosis, the proband underwent successful he

264 agnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing re

265 chnological applications, paving the way for molecular diagnosis, therapy, and biomarker discovery.

266 For patients without a current molecular diagnosis, this term defines a subgroup of imm

267 Prior to learning the results of molecular diagnosis, three of the authors reached a cons

268 uals referred for WGS who had not obtained a molecular diagnosis through targeted NGS testing.

269 ts is critical for delivering solid clinical molecular diagnosis to clinicians and patients and impro

270 The article illustrates the matching of molecular diagnosis to drug therapy for improved patient

271 netic variants that are important for cancer molecular diagnosis, treatment, and surveillance using d

272 rly identification and intervention based on molecular diagnosis.TRIAL REGISTRATIONNA.FUNDINGNational

273 but may impact strongly on their utility for molecular diagnosis using clinical exome data.

274 We identified 3195 families with a molecular diagnosis (variants in 135 genes), including 4

275 Among cases with a confirmed molecular diagnosis, variants in EYS, ABCA4, USH2A, KIZ,

276 geal swabs, or skin crusts were obtained for molecular diagnosis via real-time PCR.

277 Overall, a molecular diagnosis was achieved in 102 infants (36.7%)

278 A likely molecular diagnosis was achieved in 110 (40%) unrelated

279 A molecular diagnosis was achieved in 62.6% of patients wi

280 The molecular diagnosis was based on the finding of a homozy

281 A molecular diagnosis was established in 55 patients (51%)

282 A molecular diagnosis was established in 65.2% (58/89) of

283 A molecular diagnosis was identified in 22 (18%); 17 (14%)

284 s made in 8/12 probands (67%) and a possible molecular diagnosis was identified in a further 3/12 pro

285 Interestingly, for three probands the molecular diagnosis was inconsistent with the initial cl

286 A definitive molecular diagnosis was made in 8/12 probands (67%) and

287 A confirmed molecular diagnosis was obtained in 24% of cases.

288 In our study, a molecular diagnosis was obtained in only a minority, imp

289 ated cost avoidance provided by a more rapid molecular diagnosis was outweighed by the cost of isolat

290 A molecular diagnosis was rendered for 2076 of 7374 patien

291 A molecular diagnosis was reported for 504 patients (25.2%

292 teristics of patients for whom more than one molecular diagnosis was reported.

293 A positive result (molecular diagnosis) was confirmed in 954 of 4782 patien

294 f mastoiditis where Gram stain, culture, and molecular diagnosis were nondiagnostic or discrepant.

295 oss history, multimodal retinal imaging, and molecular diagnosis were reviewed.

296 Those patients without a molecular diagnosis were subsequently evaluated for muta

297 in magnified slit beam photographs masked to molecular diagnosis when obtainable.

298 Genetic and molecular diagnosis will have an expanding role in the u

299 y still makes it difficult to reach a timely molecular diagnosis with confidence.

300 When a parent had retinoblastoma, prenatal molecular diagnosis with early-term delivery increased t