ライフサイエンスコーパス: molecular diagnosis

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

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

3 tigations without ever reaching a conclusive molecular diagnosis.

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

5 d serum was initially solely recommended for molecular diagnosis.

6 nal biomaterials, biosensors, and biomedical molecular diagnosis.

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

8 We aimed to establish his molecular diagnosis.

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

10 ung age at diagnosis suggests the underlying molecular diagnosis.

11 h attention for making accurate decisions on molecular diagnosis.

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

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

14 utation screening as a reliable approach for molecular diagnosis.

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

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

17 and peptides are promising alternatives for molecular diagnosis.

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

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

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

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

22 onal diagnostic testing failed to identify a molecular diagnosis.

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

24 .8% of patients (n = 67) received a probable molecular diagnosis; 7.5% (n = 5) of these had autosomal

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

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

27 An exact molecular diagnosis allows genetic counseling and the id

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

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

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

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

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

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

34 Molecular diagnosis and improvements in retinal imaging

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

54 The molecular diagnosis derived from mass-spectrometry imagi

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

56 Establishing a molecular diagnosis enables early immune reconstitution

57 Prenatal molecular diagnosis facilitates anticipatory planning fo

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

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

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

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

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

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

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

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

66 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

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

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

69 Molecular diagnosis has historically been confined to se

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

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

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

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

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

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

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

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

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

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

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

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

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

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

84 Molecular diagnosis in patients with pet allergy may als

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

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

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

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

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

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

91 The value of molecular diagnosis is illustrated.

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

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

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

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

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

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

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

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

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

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

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

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

104 Molecular diagnosis of CDA is now possible in most patie

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

126 Molecular diagnosis of malaria offers many potential adv

127 Molecular diagnosis of mitochondrial disorders is challe

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

129 Requests for direct molecular diagnosis of mycobacterial disease are increas

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

131 Molecular diagnosis of Nocardia species was performed us

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

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

134 The molecular diagnosis of PMBL should significantly aid in

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

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

137 Molecular diagnosis of skeletal dysplasias is complicate

138 Molecular diagnosis of specific target bacteria DNA sequ

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

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

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

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

143 A definite molecular diagnosis of thyroid dyshormonogenesis allows

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

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

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

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

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

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

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

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

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

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

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

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

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

157 Molecular diagnosis rates for each phenotypic category w

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

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

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

161 Upon molecular diagnosis, the proband underwent successful he

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

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

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

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

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

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

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

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

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

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

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

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

174 A molecular diagnosis was rendered for 2076 of 7374 patien

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

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

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

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

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

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

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