ライフサイエンスコーパス: sporadic case

1 CpG island within the TND critical region (1 sporadic case).

2 do not have a family history of the disease (sporadic cases).

3 occur and are not rare (approximately 10% of sporadic cases).

4 dentifiable rearrangement of chromosome 6 (7 sporadic cases).

5 in family AT08, another familial case, and a sporadic case.

6 gins in each affected pedigree or apparently sporadic case.

7 f 13 families as well as a new mutation in a sporadic case.

8 o biomarkers reliably discriminating between sporadic cases.

9 is/motor neuron disease in both familial and sporadic cases.

10 opathic dilated cardiomyopathy and in 18% of sporadic cases.

11 lated cardiomyopathy (DCM) from familial and sporadic cases.

12 to map the causal genes in small families or sporadic cases.

13 NE are possible for familial, recurrent, and sporadic cases.

14 al cases from eight families and in 12 other sporadic cases.

15 onal epidemics of hepatitis E and continuous sporadic cases.

16 unclear, because they have been reported in sporadic cases.

17 .Leu189Arg)-18% prevalence in this cohort of sporadic cases.

18 th platinum-based chemotherapy compared with sporadic cases.

19 analysis was performed using 1,014 deceased sporadic cases.

20 g autosomal dominant transmission as well as sporadic cases.

21 CN mutations were only modestly enriched in sporadic cases.

22 k for developing ALS in a cohort of American sporadic cases.

23 nd pathologically indistinguishable from the sporadic cases.

24 there are few data on the species that cause sporadic cases.

25 in age-onset patterns between inherited and sporadic cases.

26 ntrast, the STX16 mutation was absent in all sporadic cases.

27 arcinoma in BRCA1-linked cases compared with sporadic cases.

28 sense variants in TLN1 were identified in 10 sporadic cases.

29 om three families with USH2C, as well as two sporadic cases.

30 terns in familial cases differ from those in sporadic cases.

31 ning of genes carrying XL and AD variants in sporadic cases.

32 p53 (via mutation) occurs in a proportion of sporadic cases.

33 history of pachyonychia and 11 of which were sporadic cases.

34 165 probands from multiplex families and 61 sporadic cases.

35 tive surgery were similar for hereditary and sporadic cases.

36 2 of 20 non-informative families and 7 of 20 sporadic cases.

37 of familial cases and a smaller fraction of sporadic cases.

38 ur findings may be relevant for familial and sporadic cases.

39 as from 2 of 3 HNPCC, 6 of 7 FAP, and 5 of 8 sporadic cases.

40 ponding germ-line sequence was normal in all sporadic cases.

41 origin of the achondroplasia mutation in 40 sporadic cases.

42 uppressor gene is inactivated in over 75% of sporadic cases.

43 reditary cases and only 20% of patients with sporadic cases.

44 9orf72 repeat expansion and C9orf72-negative sporadic cases.

45 iation analysis on nine PNTM families and 55 sporadic cases.

46 ed in 80 to 90% of familial and 30 to 35% of sporadic cases.

47 were 3R tau-positive and 4R tau-negative in sporadic cases.

48 th young and older-onset patients, including sporadic cases.

49 igo, and familial MD is observed in 5-15% of sporadic cases.

50 count for a proportion of these early-onset, sporadic cases.

51 dominant or X-linked mutations occurring in sporadic cases.

52 TX1B were then identified in 449 familial or sporadic cases.

53 ated kindreds, and 9 were from patients with sporadic cases.

54 in a small number of multiplex kindreds and sporadic cases.

55 allele (A) were 10.3% in controls, 11.9% in sporadic cases, 16.7% in familial cases, and 17.2% in ag

56 erwent surgery for MTC from 1991 to 1997 (23 sporadic cases, 17 familial cases).

57 schizophrenia by sequencing the exomes of 53 sporadic cases, 22 unaffected controls and their parents

58 Most sporadic cases (74.9%) and reported outbreaks (86.8%) oc

59 140 colorectal cancer patients, including 45 sporadic cases, 91 familial non-HNPCC cases, and 4 HNPCC

60 In all sporadic cases, a heterozygous missense variant in ACTG2

61 Sporadic cases accounted for 84% of the patients; the ot

62 Familial and sporadic cases affected bymutations in KVLQT1, HERG, and

63 The absence of mutation in sporadic cases also indicates genetic heterogeneity in c

64 ons of America, Asia, India and Africa, with sporadic cases also occurring throughout the world.

65 n pathogenicity, especially if identified in sporadic cases, although this cutoff should be viewed as

66 no evidence of ASE in any of 44 informative sporadic cases analyzed.

67 ere identified in autosomal-dominant OS in 7 sporadic cases and 1 familial case, whereas an MBTPS2 (m

68 Forty-five patients with PGA (23 sporadic cases and 22 from familial pedigrees) and docum

69 fter adjusting for age in the dataset of 584 sporadic cases and 248 control samples.

70 Fifty-four (23%) of the 239 sporadic cases and 26 (43%) of the 61 clusters were asso

71 which was paternal in origin where tested (4 sporadic cases and 7 familial cases from 2 families).

72 analysis of 343 ASD trios, 203 patients with sporadic cases and 988 controls in a Chinese population

73 By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several gene

74 s that a combination of chance clustering of sporadic cases and insensitivity of mutation detection m

75 etrospective genotyping of Lp1 isolates from sporadic cases and Legionnaires' disease (LD) outbreaks

76 The country has experienced intervals of sporadic cases and localized outbreaks, occasionally res

77 serotype 4b strains account for about 40% of sporadic cases and many epidemics of listeriosis.

78 ic causes account for about half of presumed sporadic cases and nearly two thirds of familial cases o

79 seasonal and genotypic associations between sporadic cases and outbreaks are suggestive of contempor

80 Noroviruses are a leading cause of sporadic cases and outbreaks of acute gastroenteritis ac

81 were conducted in eight countries, reported sporadic cases and outbreaks of NLV-associated gastroent

82 Yersinia pestis continues to cause sporadic cases and outbreaks of plague worldwide and is

83 Among both sporadic cases and outbreaks, GII genogroup noroviruses

84 Among both sporadic cases and outbreaks, GII genogroup noroviruses

85 demic in several West African countries with sporadic cases and prolonged outbreaks observed most com

86 Sporadic cases and short chains of human-to-human transm

87 contribute to schizophrenia vulnerability in sporadic cases and that rare genetic lesions at many dif

88 h6 mutations were not found in any of the 45 sporadic cases and the 4 HNPCC cases in the population-b

89 for single gene disorders, particularly for sporadic cases and those from small families.

90 insulinism-hyperammonemia syndrome: six with sporadic cases and two with familial cases.

91 testing of 7 tumors identified no changes in sporadic cases and yielded results supporting presence o

92 There were 35 "sporadic" cases and a restaurant-associated outbreak of

93 trio families and 256 unrelated non-familial sporadic cases) and 402 healthy ethnically matched contr

94 ively) were detected in all but one isolate (sporadic case), and Shiga toxin production by the day ca

95 the one known dominant dRTA kindred, in one sporadic case, and one kindred with two affected brother

96 enotyped in a total of 159 HPC probands, 245 sporadic cases, and 211 unaffected controls to assess th

97 CN gene have been found in both familial and sporadic cases, and 3) pneumothorax is a known complicat

98 e variant has been described in familial and sporadic cases, and also found in controls, casting doub

99 China and India had reports only of sporadic cases, and except for South Africa, sub-Saharan

100 tically unclassified autosomal recessive and sporadic cases; and (ii) hypomyelination is frequently a

101 Compared with sporadic cases, AR-DLBCL demonstrated increased hyperpro

102 Inheritance is autosomal dominant; sporadic cases are also found.

103 Sporadic cases are associated with KIAA1549:BRAF fusion

104 ted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheri

105 We observed that Lp1 STs from outbreaks and sporadic cases are more similar to each other than eithe

106 roteins aggregating in ALS/FTD, including in sporadic cases, are also targeted by autophagy and affec

107 X mutations were identified in six unrelated sporadic cases, as well as in two affected sisters and t

108 s from both the day care center outbreak and sporadic cases by CHEF-PFGE permitted us to define the R

109 elic tumor MLH1 methylation, indicating that sporadic cases can be admixed in with Lynch syndrome cas

110 es representing 16 major outbreaks and three sporadic cases collected between 2001 and 2012 were sequ

111 Intermittent sporadic cases, community clusters, and nosocomial outbr

112 tions were identified in only 27/79 (34%) of sporadic cases, compared with 25/46 (54%) of familial ca

113 Of the total burden, sporadic cases constituted >90% (thus, annual burden may

114 all other regions in the years 2015-2016 but sporadic cases continued to occur.

115 ic diagnosis remains difficult especially in sporadic cases, due to the very large number of mutation

116 The subjects examined comprised about 3% of sporadic cases evaluated by the National Prion Disease P

117 ed 16 desmoid tumors from FAP-associated and sporadic cases, finding that all 16 of 16 tumors express

118 Of the nine presumed sporadic cases, five were from four renal transplant rec

119 for studies reporting norovirus outbreak or sporadic case genotypes and merged this with data on pro

120 l team and from other community clusters and sporadic cases had PFGE patterns that were indistinguish

121 Analysis of familial cancer syndromes and sporadic cases has strongly implicated both p53 and pRb

122 Since the 1916-1927 epidemic, only sporadic cases have been described.

123 of NIID varies widely, and both familial and sporadic cases have been reported.

124 Sporadic cases have been shown to have more variable dis

125 in aggregates first arise in the majority of sporadic cases have remained unclear.

126 In two sporadic cases, heterozygosity for de novo missense muta

127 te 2007 on 57 Cryptosporidium specimens from sporadic cases in Colorado, Idaho, New Mexico, and Iowa.

128 However, because of clustering of sporadic cases in families, and potentially because of t

129 hepatitis in developing countries as well as sporadic cases in industrialized countries.

130 We found apparently sporadic cases in other states that could be linked to t

131 Sporadic cases in otherwise normal individuals are rare,

132 te outbreak cases from temporally associated sporadic cases in the same geographic areas and facilita

133 ion could be more frequently associated with sporadic cases in the United States.

134 on, we identified a further 8 families and 1 sporadic case, in whom 6 BEST1 missense mutations were f

135 cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation

136 o 93% similarity) among the 28 isolates from sporadic-case individuals, including REDP 33, which was

137 n those inhabited by the day care center and sporadic-case individuals.

138 ated the possibility that HH pathogenesis in sporadic cases is due to a somatic (tumor-only) mutation

139 up C N. meningitidis outbreak-associated and sporadic-case isolates with a single metabolic gene.

140 33, which was exhibited by both day care and sporadic-case isolates.

141 made a primary keratinocyte cell line from a sporadic case known to carry the R125C mutation as part

142 2) = 1.31; P = 0.25) or between familial and sporadic cases (log-rank chi(2) = 1.16, with 1 df; P = 0

143 in BRCA1 (n = 15) or BRCA2 (n = 9) and in 39 sporadic cases matched for patient age and tumor hormone

144 revalent in Thailand and northern Australia, sporadic cases may be encountered in areas where it is n

145 96 individuals), clearly affected, unrelated sporadic cases (n=196) and clearly unaffected, unrelated

146 Both autosomal dominant and sporadic cases occur.

147 ls from the surrounding geographic area with sporadic cases occurring during the 3 months before the

148 collected during M. pneumoniae outbreaks and sporadic cases occurring in the United States from Febru

149 Ninety-nine families, each with a sporadic case of achondroplasia in a child, were analyze

150 In this study we report a sporadic case of agnathia-otocephaly complex with associ

151 using ACTN4 mutation (p.G195D, de novo) in a sporadic case of childhood FSGS using next generation se

152 tional cases revealed the same mutation in a sporadic case of CNC, and different mutations in three o

153 de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known

154 ct missense mutations in five families and a sporadic case of erythrokeratodermia variabilis, all of

155 0; mean age of onset, 42 years), even in the sporadic case of family 3 with a presumed recessive tran

156 ine kinase domain of FGFR2, described in the sporadic case of LADD syndrome, leads to reduced tyrosin

157 G/A641R double mutant, first identified in a sporadic case of MTC.

158 e helpful in assessing the likelihood that a sporadic case of parotitis without laboratory confirmati

159 We report a new sporadic case of severe, atypical OS and its underlying

160 s) are the most common cause of epidemic and sporadic cases of acute gastroenteritis worldwide.

161 t commonly identified cause of outbreaks and sporadic cases of acute gastroenteritis.

162 ion factor 1 (RUNX1) have been identified in sporadic cases of acute myeloid leukemia (AML) and in as

163 chanism that may account for a proportion of sporadic cases of AD, but to date there has been no evid

164 s infectious agent in the pathophysiology of sporadic cases of AD.

165 ng mutations are also frequently observed in sporadic cases of advanced NB.

166 es, and they may emerge as a common cause of sporadic cases of AGE among both children and adults.

167 vious study suggested an association between sporadic cases of ALS and NFH tail deletions, but two su

168 SOD1 could be a factor in the occurrence of sporadic cases of amyotrophic lateral sclerosis, which r

169 or C758G) are responsible for virtually all sporadic cases of Apert syndrome.

170 ified novel rare variants and has found that sporadic cases of ASD/ID are enriched for disruptive de

171 In 2010, sporadic cases of avian leukosis virus (ALV)-like bursal

172 have looked for mutations in the ATM gene in sporadic cases of B-cell chronic lymphocytic leukaemia (

173 most frequently reported complications, with sporadic cases of band erosion, port/tube dysfunction, h

174 the BRCA2 mutation, and seven patients with sporadic cases of breast cancer was compared with a micr

175 mutation status was found in familial versus sporadic cases of BRR ( P = 0.113).

176 nancies, but notably in all endemic and some sporadic cases of Burkitt's lymphoma (BL).

177 In this study, 11 sporadic cases of canine narcolepsy and two additional m

178 It is still unknown, however, if the sporadic cases of CCM also follow this genetic mechanism

179 l variants in a large number of familial and sporadic cases of cervical dystonia led to the identific

180 s that are associated with both familial and sporadic cases of CHD.

181 p until the early 2000s, a few outbreaks and sporadic cases of CHIKV were mainly reported in Africa a

182 In one of three informative sporadic cases of cHL, we detected loss of heterozygosit

183 e VHL gene also occur in a large majority of sporadic cases of clear-cell RCC, which have high intrin

184 utrophil elastase have been detected in many sporadic cases of congenital neutropenia.

185 severe mutations in MEF2A might also explain sporadic cases of coronary artery disease (CAD).

186 In this study we found that most sporadic cases of cryptosporidiosis in Wisconsin are cau

187 of human astrovirus (HAstV) in outbreaks and sporadic cases of diarrhea among children attending chil

188 nding mutations at the disease locus and for sporadic cases of disease.

189 investigations of C. difficile outbreaks and sporadic cases of disease.

190 a (AR-DLBCL) and compare these findings with sporadic cases of DLBCL.

191 he X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subco

192 declared the end of the outbreak early 2016, sporadic cases of EBOV infection have since been reporte

193 ngs do not rule out the possibility of rare, sporadic cases of either ANCA seroconversion or true dru

194 4 were performed in five pedigrees and three sporadic cases of EKV.

195 a human and veterinary pathogen that causes sporadic cases of fatal neurological disease.

196 al distribution and reports that BHAV causes sporadic cases of febrile illness and encephalitis in hu

197 rther missense substitutions in familial and sporadic cases of FECD as well as in a single family wit

198 l fluid have suggested additional markers in sporadic cases of FTLD that will lead to the identificat

199 les from patients from 529 outbreaks and 141 sporadic cases of gastroenteritis in the North of Englan

200 nmental V. cholerae isolates associated with sporadic cases of gastroenteritis in the Western Hemisph

201 hia coli [STEC]) implicated in outbreaks and sporadic cases of human illness (SPT A and B).

202 e to circulate among avian species and cause sporadic cases of human infection.

203 mutations in COL4A1 and COL4A2 contribute to sporadic cases of ICH.

204 report the clinical features of the first 11 sporadic cases of infection of humans with triple-reasso

205 ypes of IAVs can infect swine; however, only sporadic cases of infection with avian IAVs are reported

206 s of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed fiv

207 ients with telomerase mutations but also for sporadic cases of IPF associated with physiological agin

208 th IPF, and shortened telomeres are found in sporadic cases of IPF.

209 vestigate the role of NPHS2 polymorphisms in sporadic cases of late-onset FSGS, we studied 377 biopsy

210 he United States, 571 clinical isolates from sporadic cases of LD in the United States, and 149 envir

211 imited utility for virologic surveillance of sporadic cases of measles; however, they can be a useful

212 A total of 244 strains were isolated from sporadic cases of meningococcal disease, and 200 strains

213 break in Pontypridd, Glamorgan; 15 were from sporadic cases of meningococcal disease; 26 were from th

214 Rare sporadic cases of meningococcal urogenital and anorectal

215 Sporadic cases of mismatch repair deficiency occur almos

216 ygous genetic variants have been reported in sporadic cases of MPGN, although their functional signif

217 ereditary cases and approximately 40% of the sporadic cases of MTC, the RET kinase is constitutively

218 ipts have been detected in both familial and sporadic cases of myelodysplastic syndromes (MDS).

219 found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a bial

220 btypes could have targeted about half of the sporadic cases of NMSB disease that occurred between 199

221 RRK2) have been associated with familial and sporadic cases of Parkinson disease.

222 ought to play a critical role in more common sporadic cases of Parkinson's disease as well because th

223 found in autosomal recessive forms and some sporadic cases of Parkinson's disease.

224 Sporadic cases of parotitis are generally assumed to be

225 ns throughout the United States investigated sporadic cases of parotitis.

226 atients in Japan, as well as strains causing sporadic cases of PCP in nontransplant patients with or

227 tic mutation in both familial and apparently sporadic cases of PD.

228 circovirus 2 (PCV2) was first identified in sporadic cases of postweaning multisystemic wasting synd

229 at least 50% of familial cases and in 25% of sporadic cases of PPH.

230 eta) superfamily, underlie many familial and sporadic cases of primary pulmonary hypertension (PPH).

231 In sporadic cases of progressive supranuclear palsy, the pr

232 , analysis of the fusion has been limited to sporadic cases of prostate cancer.

233 Knudson's analysis of inherited and sporadic cases of retinoblastoma supported this predicti

234 von Hippel-Lindau syndrome (as distinct from sporadic cases of single von Hippel-Lindau-associated tu

235 RNS, occurring in approximately 20 to 30% of sporadic cases of SRNS.

236 sting that somatic mutations may account for sporadic cases of the arrhythmia.

237 recessive forms of PD, is also implicated in sporadic cases of the disease.

238 utopsied Parkinsonian tissue from late-onset sporadic cases of the disease.

239 -frame deletions in STAT3 in 50 familial and sporadic cases of the hyper-IgE syndrome.

240 such findings are reminiscent of reports of sporadic cases of the imprinting disorder, Angelman synd

241 f genetic instability, resulting in rare and sporadic cases of vaccine-associated paralytic poliomyel

242 We compared 85 sporadic cases of VTEC O157 infection, identified throug

243 Methods After the observation of sporadic cases of WAHA that occurred after treatment of

244 We investigated the predictive value of sporadic cases on outbreaks using a 2-state discrete Mar

245 We investigated the predictive value of sporadic cases on outbreaks using a two-state discrete M

246 In Europe, only sporadic cases or small clusters of USA300 infections ar

247 fuse, and initially unremarkable increase in sporadic cases, or as an explosive epidemic suddenly pro

248 Among presumed sporadic cases, our data suggest they may be over-repres

249 ogenic with higher blood-vessel density than sporadic cases (P < .001) and highlighted the role of Ep

250 d in 16 of 24 (67%) HNPCC vs. 24 of 26 (92%) sporadic cases (P = 0.035) and in 2 of 2 FAP cases.

251 second family (p.Gly616Arg) and in two of 11 sporadic cases (p.Leu189Pro, p.Leu189Arg)-18% prevalence

252 An Arg-589/His mutation in the sporadic case proved to be a de novo mutation.

253 Identifying de novo mutations (DNMs) in sporadic cases provides an effective strategy to find ge

254 ing was conducted in 12 PNTM families and 57 sporadic cases recruited at the National Institutes of H

255 auses of other AD and PD cases, particularly sporadic cases, remain unclear.

256 al Alzheimer's disease (AD), the etiology of sporadic cases remains elusive.

257 ation to determine whether it was related to sporadic cases reported in other states among persons wh

258 nd outbreak-related cases were compared with sporadic cases reported previously to the Listeria Initi

259 revious melanomas stratified by familial and sporadic cases separately has not yet been reported, alt

260 dren and comparison to previous outbreak and sporadic case series.

261 This should also be considered in sporadic cases since adequate family evaluation may not

262 have larger effect sizes than those found in sporadic cases, so family-based designs can be a more po

263 sease is the absence of a vaccine to prevent sporadic cases spanning many age groups.

264 hese mutations was detected in six unrelated sporadic case subjects and also segregated in one family

265 HSAN I critical region in 5 families and the sporadic case suggested a common founder.

266 We found 6 sporadic cases that experienced APE during the study per

267 The Canadian outbreak was closely related to sporadic cases that occurred preoutbreak in cross-border

268 with dominantly inherited disease and in 90 sporadic cases that presented with a compatible clinical

269 Gs (2 neurofibromatosis type 1-related and 2 sporadic cases) that received treatment with bevacizumab

270 mportantly, these approaches enable study of sporadic cases, the most common presentation of CHD.

271 Among the NMSB isolates obtained from sporadic cases, the most prevalent serosubtypes were P1.

272 ons were identified in the six patients with sporadic cases; the two patients with familial cases sha

273 status revealed that in striking contrast to sporadic cases, there is a nearly complete lack of HIN-1

274 Among the sporadic cases, there were distinct geographical and tem

275 mphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylat

276 In four apparently sporadic cases, three frameshift and a missense mutation

277 Source attribution of sporadic cases through case-control interviews has not b

278 e the rate of the initiating APC mutation in sporadic cases using the age incidence of FAP to approxi

279 l suggested that the 3-day moving average of sporadic cases was positively associated with the probab

280 emiologically distinct outbreaks and several sporadic cases were analyzed.

281 Sporadic cases were ascertained via the New Vaccine Surv

282 Sporadic cases were ascertained via the New Vaccine Surv

283 In addition, 250 laboratory-confirmed sporadic cases were reported in persons who developed ga

284 raw milk, while the sources for most of the sporadic cases were unknown.

285 ain unknown, typically in small families and sporadic cases, wherein cosegregation could not be estab

286 l ovarian cancer cases is worse than that in sporadic cases, whether or not a BRCA1/2 mutation was id

287 related probands with NF1 (14 familial and 7 sporadic cases) who were all found to have the same c.29

288 enotype of HSAN I in 6 families and a single sporadic case with a common founder identifies a number

289 exon 7 of NTN1 in 2 unrelated families and 1 sporadic case with isolated congenital mirror movements

290 The variant was detected in a single sporadic case with M-D, but in none of the 146 probands

291 ly in presence of atypical phenotypes and/or sporadic cases with all healthy relatives is not possibl

292 m of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotyp

293 F is also downregulated in the cortices from sporadic cases with major mental disease.

294 genetic cause was identified in 156 (13%) of sporadic cases with other causes being alcohol excess (1

295 nd familial RTT patients, but only 1/5 (20%) sporadic cases with suggestive but non-diagnostic featur

296 24 Hailey-Hailey disease families and three sporadic cases with the disorder.

297 tic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynap

298 lity that women with breast cancer represent sporadic cases within hereditary cancer families must al

299 vary from complex inheritance in families to sporadic cases without any evidence of inheritance.

300 ber of mutation carriers within families and sporadic cases worldwide for pathogenic mutations in SNC