ライフサイエンスコーパス: sporadic

1 the cancer genetic background (hereditary vs sporadic).

2 orted cases in literature till now have been sporadic.

3 ces and isolation of consensus compounds was sporadic.

4 The vast majority of cases are sporadic.

5 licated in Huntington pathology, undergoes a sporadic +1 frameshift to generate from the CAG repeat a

6 AMTS-4 contributes to aortic destruction and sporadic AAD development.

7 y cell infiltration, and thus contributes to sporadic AAD development.

8 In a mouse model of sporadic AAD induced by a high-fat diet and angiotensin

9 We evaluated newly diagnosed sporadic AD (n = 54) in comparison with healthy age-matc

10 athways that can differ between familial and sporadic AD and two pathways associated with cerebral am

11 esponse pathways substantially contribute to sporadic AD pathogenesis.

12 e and CAA deposition in the vast majority of sporadic AD patients remain unclear.

13 in demented Down syndrome individuals and in sporadic AD subjects compared to age-matched controls.

14 production and protects against the onset of sporadic AD.

15 We included 1107 patients with 1 or more sporadic adenoma(s) removed from the colon or rectum at

16 Multiple system atrophy is a fatal sporadic adult-onset neurodegenerative disorder with no

17 Replication analyses of sporadic ALS (SALS) cases and independent control cohort

18 subjects, patients with familial ALS (fALS), sporadic ALS (sALS), ALS with frontotemporal dementia (F

19 pathy in NEFH-tTA/tetO-hTDP-43DeltaNLS mice, sporadic ALS and C9ORF72 ALS, and blocking HIPK2 kinase

20 NA sequencing data from C9orf72-positive and sporadic ALS cases, as well as healthy controls.

21 cleavage fragment have also been reported in sporadic ALS cases, suggesting that VAPB loss of functio

22 mark of the TDP-43 pathological signature of sporadic ALS is restricted to cortical areas as well as

23 d in the CSF of SOD1(G93A) mice and rats and sporadic ALS patients, suggesting that our findings may

24 lasmic aggregation of RRM2 fragments seen in sporadic ALS patients.

25 ltering CCNF variants was evident in a large sporadic ALS replication cohort.

26 l ALS genetic variants and were disrupted in sporadic ALS spMNs.

27 18-80 years with a diagnosis of familial or sporadic ALS were randomly assigned (1:1), centrally acc

28 ents were included, comprising patients with sporadic ALS, ALS mimics (disease controls (DCo)), front

29 y for SOD1-linked ALS, but possibly also for sporadic ALS.

30 t of cytoplasmic inclusions in patients with sporadic ALS; however, the molecular basis of the diseas

31 Late-onset, sporadic Alzheimer disease (AD) is a common and lethal n

32 leading to and responsible for age-related, sporadic Alzheimer's disease (AD) remain largely unknown

33 pheral tissue, suggesting their relevance in sporadic Alzheimer's disease (AD).

34 ould note that cognitive symptoms typical of sporadic Alzheimer's disease are the most consistent fin

35 generation of induced neuron-based model of sporadic Alzheimer's disease in mice and humans, and use

36 atures seen in APOE varepsilon3/4-associated sporadic Alzheimer's disease patients.

37 the pathogenic mechanisms resulting from the sporadic Alzheimer's disease risk factor apolipoprotein

38 sion holds promise for in vitro modelling of sporadic Alzheimer's disease.

39 as been directly linked to both familial and sporadic amyotrophic lateral sclerosis (ALS), a devastat

40 Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-o

41 The early motor manifestations of sporadic amyotrophic lateral sclerosis (ALS), while rare

42 ns in autophagy genes can cause familial and sporadic amyotrophic lateral sclerosis (ALS).

43 We conclude that the loss of sporadic and discontinuous permafrost by 2100 could resu

44 altered proteostasis are common features of sporadic and familial ALS forms.

45 -43, encoded by TARDBP), are associated with sporadic and familial amyotrophic lateral sclerosis.

46 burden of genetic variation contributing to sporadic and familial forms of CHD has been identified.

47 Sporadic and familial mutations in the oligosaccharide-o

48 eral Sclerosis (ALS, motor neurone disease) (sporadic and familial) and Parkinson's Disease (PD).

49 encoding the protein Merlin is found in most sporadic and inherited schwannomas, but the molecular me

50 3R-tau and 4R-tau has been found in several sporadic and inherited tauopathies, suggesting that dysr

51 ecause monitoring of eradication outcomes is sporadic and limited, the impacts of global eradications

52 ospitalized patients are often assumed to be sporadic and linked to community acquisition.

53 of MAX protein expression in 48% and 90% of sporadic and NF1-syndromic GISTs, respectively, and in t

54 We find MAX mutations in 17% and 50% of sporadic and NF1-syndromic GISTs, respectively, and we f

55 that may facilitate rapid identification of sporadic and outbreak-associated cases.

56 phthalmic examination was performed in seven sporadic and six familial subjects.

57 ned a cohort of eleven MMIHS patients, eight sporadic and three familial cases, and performed immunoh

58 Sporadic aortic aneurysm and dissections (AADs) are comm

59 is significantly depressed in subjects with sporadic as well as rare syndromic forms of ASD.

60 ression in aortic tissues from patients with sporadic ascending TAAD, particularly in SMCs.

61 those findings to a cohort of subjects with sporadic ASD without any known mutations.

62 The commonest cause of sporadic ataxia was gluten ataxia (25%).

63 t had a family history, the remaining having sporadic ataxia.

64 r major subgroups: symptomatic patients with sporadic attacks (<4 attacks/year) or recurrent acute at

65 familial AVNRT group when compared with the sporadic AVNRT group (44.2+/-19 versus 54.8+/-18 years o

66 have a well described expression pattern in sporadic Barrett esophagus.

67 Immunohistochemistry staining is similar to sporadic Barrett, suggesting that this group of patients

68 We performed the first GWAS of sporadic BAVM in the largest BAVM cohort assembled to da

69 However, compared with sporadic BCCs, BCNS-BCCs have a significantly lower muta

70 have reduced mutator phenotype compared with sporadic BCCs, which may contribute to their relatively

71 s are more responsive to SMO inhibitors than sporadic BCCs, with minimal development of resistance.

72 e histopathologically indistinguishable from sporadic BCCs.

73 Our application of the model to 30 sporadic BE patients' methylomic profiles first exposes

74 r tissues, such as the brain, expression was sporadic both temporally and spatially and overlapped wi

75 ternates between host-imposed quiescence and sporadic bouts of replication to complete its life cycle

76 We found that in sporadic breast cancer high BRCAness score is associated

77 s between BRCA1/2 mutant familial tumors and sporadic breast cancer tumors while adjusting for releva

78 Interest in CPM is common among women with sporadic breast cancer.

79 Most cases of Alzheimer's disease (AD) are sporadic, but a small percentage of AD cases, called fam

80 The 63 patients with sporadic CAA without dementia had thinner cortices (2.17

81 to the HCHWA-D group; patients with probable sporadic CAA without dementia; two independent cohorts o

82 y detection of vascular amyloid pathology in sporadic CAA, and a biomarker of efficacy in future inte

83 nd adjunct preventive interventions for both sporadic cancer as well as cancer predisposition syndrom

84 e characteristics compared to hereditary and sporadic cancer.

85 The development of many sporadic cancers is directly initiated by carcinogen exp

86 s that increase the somatic mutation load in sporadic cancers.

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

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

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

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

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

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

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

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

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

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

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

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

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

100 9orf72 repeat expansion and C9orf72-negative sporadic cases.

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

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

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

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

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

106 cts (P < .001) and 0 of the 13 subjects with sporadic CCM (P = .001).

107 n unaffected control subjects and those with sporadic CCM by using the Fisher exact test.

108 sumed preferential occipital distribution in sporadic cerebral amyloid angiopathy (CAA).

109 Sporadic cerebral amyloid angiopathy is a common, well-d

110 the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications i

111 the somatic driver landscape of 104 cases of sporadic chordoma.

112 (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17,

113 ood markers for the diagnosis of genetic and sporadic CJD and might represent promising tools to pred

114 ected 6 brains from confirmed cases of human sporadic CJD and sampled each in triplicate (18 specimen

115 A proposed diagnostic algorithm for sporadic CJD combines CSF and OM RT-QuIC testing to prov

116 included for analysis, all 61 patients with sporadic CJD had positive RT-QuIC findings using OM or C

117 In contrast, three different isolates of sporadic CJD prions failed to transmit disease to Tg(GPP

118 n replicate prions associated with the major sporadic CJD strains found in human patients.

119 rions with a sub-optimal sensitivity for the sporadic CJD subtypes MM2C and MM2T, and a low sensitivi

120 Recent genomic studies of sporadic clear cell renal cell carcinoma (ccRCC) have un

121 in semen, reported sexual transmission, and sporadic clusters at the end of the 2013-2016 epidemic h

122 tal cancer (CRC) and have been found in many sporadic colorectal and endometrial tumors.

123 utation is the most common genetic change in sporadic colorectal cancer (CRC).

124 s an important role in the susceptibility to sporadic colorectal cancer (CRC).

125 The risk of sporadic colorectal cancer in Asian populations is consi

126 athogenesis of colitis-associated cancer and sporadic colorectal cancer.

127 dney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies.

128 list prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were f

129 oradic fatal insomnia (sFI) and a subtype of sporadic Creutzfeldt-Jakob disease (sCJD) identified as

130 e CSF RT-QuIC differentiated 94% of cases of sporadic Creutzfeldt-Jakob disease (sCJD) MM1 from the s

131 tients had either inherited prion disease or sporadic Creutzfeldt-Jakob disease.

132 EEG has long been used in the diagnosis of sporadic Creutzfeldt-Jakob disease; however, the charact

133 ting observed in experimental, acquired, and sporadic Creutzfeldt-Jakob diseases.

134 body (NAb) responses, as well as weak and/or sporadic cross-reactive tier 2 virus NAb responses with

135 tation of Tp53 (which is commonly mutated in sporadic cSCC) coupled with Tgfbr1 deletion in LGR5(+ve)

136 uman vemurafenib-induced skin lesions and in sporadic cSCC.

137 owed ADAMTS-4 levels were increased in human sporadic descending thoracic AAD (TAAD) samples.

138 same tumour-suppressor pathways and eventual sporadic development of malignant mesothelioma.

139 The importance of de novo variation in sporadic disease is a recent highlight, and the genetic

140 eentrant tachycardia (AVNRT) is considered a sporadic disease occurring in approximately 22.5 cases p

141 Children with multidrug-resistant sporadic disease show better renal survival than those w

142 pathies and conceivably for certain forms of sporadic disease.

143 g of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two addition

144 Clinical trials for PMO show variable and sporadic dystrophin rescue.

145 , highlight novel potential causal genes for sporadic epilepsy.

146 (1 point); (3) prior seizure (1 point); (4) sporadic epileptiform discharges (1 point); (5) frequenc

147 ld be considered in patients presenting with sporadic episodes of haematuria who have immigrated from

148 These disorders can present with a sporadic etiology, such as in AD, or a familial etiology

149 68 in 2015 and CDC was only aware of limited sporadic EV-D68 detection in the US in 2016.

150 lohumeral muscular dystrophy (FSHD) involves sporadic expression of DUX4, which inhibits myogenesis a

151 We find that other cell types also exhibit sporadic expression of many of these same marker genes,

152 ge variability and exhibits spatiotemporally sporadic extreme rainfall events.

153 lay a role in the phenotype determination of sporadic fatal insomnia (sFI) and a subtype of sporadic

154 nce fluorescence microscope, cells exhibited sporadic fluorescence transients the size of diffraction

155 A sporadic form of Alzheimer disease (AD) and vascular dem

156 ich was apparently absent in the more common sporadic form of CJD (sCJD).

157 tion may also play a role in the more common sporadic form of the disease.

158 ons of the RET proto-oncogene or occurs as a sporadic form.

159 caused by rare highly penetrant mutations or sporadic forms - and holds promise as a biomarker for di

160 a major genetic risk factor for familial and sporadic forms of Alzheimer's disease.

161 work offers a useful in vivo model of human sporadic forms of BRAF-mutant GIST to help unravel its p

162 ny questions, particularly those relating to sporadic forms of disease, remain unanswered.

163 ne in our understanding of both familial and sporadic forms of disease.

164 al, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's dise

165 associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral scl

166 neurodegenerative diseases and indicate that sporadic FTD is a polygenic disorder where multiple plei

167 In vivo detection of AD copathology in sporadic FTLD patients may help stratify clinical cohort

168 ent AD-associated tau pathology accompanying sporadic FTLD, we found lower CSF phosphorylated tau lev

169 Norovirus is the most common cause of sporadic gastroenteritis and outbreaks worldwide.

170 Estimated costs of sporadic gastrointestinal illness associated with surfac

171 enomes, with a few exceptions that indicated sporadic gene flow.

172 s are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies.

173 The interface between sporadic genotype and adductor phenotype of LD yielded f

174 This mouse model of sporadic GIST model was amenable to therapeutic interven

175 el C6 plays a pivotal role in hereditary and sporadic glomerular kidney disease.

176 The etiology of sporadic human chronic inflammatory diseases remains mos

177 sulting in hundreds of poultry outbreaks and sporadic human infections.

178 Overrepresentation of the paternal genome in sporadic hydatidiform moles (purely androgenetic in comp

179 ases of familial Alzheimer's disease (AD) or sporadic (idiopathic) AD (sAD).

180 Delphinidin is sporadic in angiosperms, and flax has no known pollinati

181 f PD have been reported, most incidences are sporadic in nature.

182 ed immune responses against tularemia, whose sporadic incidence makes clinical trials of vaccines dif

183 Sporadic inclusion body myositis (sIBM) pathogenesis is

184 Although the cause of sporadic inclusion body myositis is unknown, GNE myopath

185 erative inflammatory responses that resemble sporadic inclusion body myositis pathology.

186 rder associated with aging and is related to sporadic inclusion body myositis, the most common acquir

187 osis, frontotemporal lobar degeneration, and sporadic inclusion body myositis.

188 fied DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpu

189 t also can be transmitted to humans, causing sporadic infections and even pandemic outbreaks.

190 Sporadic infections by H5N1, H5N6, and H7N9 viruses are

191 Influenza A viruses can also cause sporadic infections or spread worldwide in a pandemic wh

192 Imaging surveillance at sporadic intervals revealed slow progressive growth of t

193 2011-Feb 2014) to identify risk factors for sporadic intestinal Campylobacter infections and to dete

194 Collectively, 11.3% of case subjects with sporadic IPF carried a qualifying variant in one of thes

195 A subanalysis of 186 case subjects with sporadic IPF confirmed TERT, RTEL1, and PARN as study-wi

196 RN as study-wide significant contributors to sporadic IPF.

197 nary fibrosis-as significant contributors to sporadic IPF.

198 Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than

199 d cellular models of AD and in patients with sporadic late-onset AD suggest that impaired mitophagy c

200 such as tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis.

201 ption of Pten but not control mice developed sporadic, macroscopic, intraductal papillary lesions wit

202 dense, turbulent gas cloud, and it grows by sporadic mass accretion until it acquires 34,000 solar m

203 OE4 allele, the main genetic risk factor for sporadic MCI/AD, display impaired cholinergic sprouting

204 elanoma pedigrees, but their contribution to sporadic melanoma has not been fully assessed.

205 ar to have worse outcomes than patients with sporadic MPNST, but the mechanism underlying this correl

206 e gene expression profiles of hereditary and sporadic MTCs.

207 caused, in the vast majority of cases, by a sporadic mutation in the Methyl-CpG-binding protein-2 (M

208 ever, even under these optimized conditions, sporadic mutations can occur, highlighting the advisabil

209 compromised by several mechanisms, including sporadic mutations in its scaffolding A and regulatory B

210 Sporadic mutations were detected in the consensus sequen

211 The sporadic nature of Ebola outbreaks and their occurrence

212 of H5N1 infection in humans, as well as the sporadic nature of H5N1 outbreaks, both geographically a

213 Due to their destructive and sporadic nature, it is often difficult to evaluate and p

214 Eight patients had sporadic NETs, and 1 had multiple endocrine neoplasia ty

215 ubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders.

216 tched control subjects, and 13 patients with sporadic, nonfamilial cerebral cavernous malformation (C

217 features have been demonstrated neither for sporadic nor for familial schizophrenia.

218 Since their first report in 2002, sporadic observations have been reported from ground and

219 diversity of genetic backgrounds, with only sporadic occurrence of ST8-USA300, in Geneva, Switzerlan

220 s indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is comple

221 7 candidate genes in an initial cohort of 22 sporadic ODA patients.

222 th acute neurovisceral symptoms which may be sporadic or recurrent and, when severe, can be life-thre

223 ty of cases, while the majority of cases are sporadic or show modest familial clustering.

224 Multiple system atrophy (MSA) is a sporadic orphan neurodegenerative disorder.

225 ated with LFS and are frequently observed in sporadic osteosarcoma.

226 a virus (EBOV) infection is characterized by sporadic outbreaks caused by zoonotic transmission.

227 te intensive TB control campaigns, there are sporadic outbreaks of bovine TB in regions declared TB f

228 Despite sporadic outbreaks of Ebola virus (EBOV) over the last 4

229 quito-transmitted flavivirus responsible for sporadic outbreaks of mild and febrile illness in Africa

230 veloped negative-sense RNA virus that causes sporadic outbreaks with high case fatality rates.

231 past 15 years, after decades of infrequent, sporadic outbreaks, the virus has caused major epidemic

232 ic surveillance during the epidemic has been sporadic owing to a lack of local sequencing capacity co

233 milial PA (4/12) and 12% of individuals with sporadic PA (15/125) harbored functional CDH23 variants.

234 ations in CDH23 are linked with familial and sporadic PA and could play important roles in the pathog

235 al PA (20 individuals), 125 individuals with sporadic PA, and 260 control individuals showed that 33%

236 rmline mutations in patients with apparently sporadic pancreatic cancer, we sequenced 32 genes, inclu

237 health burden through seasonal epidemics and sporadic pandemics.

238 Clinically sporadic PanNETs contain a larger-than-expected proporti

239 down-regulation of CCND1 regulatory genes in sporadic parathyroid adenomas.

240 clein (alphaSyn) is the major gene linked to sporadic Parkinson's disease (PD), whereas the G209A (p.

241 (alpha-syn) is involved in both familial and sporadic Parkinson's disease (PD).

242 gene is associated with risk of familial and sporadic Parkinson's disease (PD).

243 compared findings with those in people with sporadic Parkinson's disease and age-matched healthy con

244 Sporadic Parkinson's disease has been proposed to develo

245 arable with amounts seen in individuals with sporadic Parkinson's disease of similar duration.

246 LRRK2 mutation carriers, 63 individuals with sporadic Parkinson's disease, and 35 healthy controls.

247 of LRRK2 mutation carriers, individuals with sporadic Parkinson's disease, and age-matched healthy co

248 ut manifest Parkinson's disease, people with sporadic Parkinson's disease, and age-matched healthy co

249 LRRK2 mutation carriers, 13 individuals with sporadic Parkinson's disease, and nine healthy controls.

250 ith Parkinson's disease and individuals with sporadic Parkinson's disease, and whether LRRK2 mutation

251 est Parkinson's disease and individuals with sporadic Parkinson's disease, but LRRK2 mutation carrier

252 h LRRK2 Parkinson's disease, and people with sporadic Parkinson's disease, p<0.0001), striatum (compa

253 0.0001), striatum (compared with people with sporadic Parkinson's disease, p=0.02), and brainstem (co

254 ransporter binding than did individuals with sporadic Parkinson's disease, with (18)F-FDOPA uptake co

255 n non-affected members, and in one unrelated sporadic patient with type 1 painless diabetic neuropath

256 ly518Glu and p.Arg215Gly) were identified in sporadic patients without family history.

257 regation, and perhaps in the pathogenesis of sporadic PD as well.

258 Late-onset, sporadic PD is thought to result from the combined effec

259 mitochondrial motility are also impaired in sporadic PD patients.

260 cognitive dysfunction indistinguishable from sporadic PD.

261 calcium uptake, and in postmortem brains of sporadic PD/PDD patients of both sexes.

262 Additionally, familial and sporadic penetrance did not significantly differ from on

263 In the sporadic permafrost zone of northwestern Canada, boreal

264 rivers determined the geographic pattern of sporadic plague cases.

265 al data were collected from 69 patients with sporadic PPA, divided into 29 semantic (svPPA), 25 nonfl

266 In individuals with a sporadic primary tauopathy, the presence of an epsilon4

267 In most human sporadic prion diseases the phenotype is consistently as

268 Although most BCCs are sporadic, rare individuals with basal cell nevus syndrom

269 A sporadic reactive Aptima signal was observed in HIV-1-in

270 yard Clarkson described a woman experiencing sporadic recurrent episodes of shock and anasarca.

271 t-of-entry filters were installed to capture sporadic release of particulate lead from the lead servi

272 There are sporadic reported cases of infections related to lactoba

273 re collected by a large multicenter study of sporadic retinoblastoma in which parents of 99 unilatera

274 e exposure contributes to the development of sporadic retinoblastoma.

275 8 trios consisting of Japanese patients with sporadic schizophrenia and their parents.

276 explanation for similar findings observed in sporadic schizophrenia patients.

277 (OR, 3.66; 95% CI, 1.67-8.02; P = .001), and sporadic sharp waves and periodic discharges (OR, 2.59;

278 t contacts with stroma cells as indicated by sporadic short-lived calcium spikes.

279 nuclease DNASE1L3 are linked to familial and sporadic SLE, respectively.

280 roportion of young people with an apparently sporadic solitary meningioma or schwannoma had a causati

281 Although most cases of BCC are sporadic, some forms are inherited, such as Bazex-Dupre-

282 eshift mutation, whereas one individual with sporadic SRNS exhibited compound heterozygosity.

283 More than 95% of NSC is sporadic, suggesting a role for de novo mutations.

284 We now report the development of a sporadic tauopathy model to study human tau strains by i

285 a/mutagen-sensitive 308 (mus308), exhibits a sporadic thin eggshell phenotype and reduced chorion gen

286 t presenting specifically with non-familial, sporadic thoracic aortic dissection (STAD) and compared

287 In BRCA-mutant/sporadic TNBC patients, amplification of the MYC gene is

288 Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at hi

289 Nevertheless, apparently sporadic tumors in young patients may herald a genetic s

290 omologous recombination deficiency scores to sporadic tumors, significantly lower than scores in tumo

291 significance of Poldelta variants present in sporadic tumors.

292 tients with familial U-HAE, 22 patients with sporadic U-HAE, and 200 control subjects.

293 nvestigated in all patients with familial or sporadic U-HAE.

294 y, a prominent feature of both inherited and sporadic variants of the disease, but the mechanisms und

295 alformations (CCMs) are common inherited and sporadic vascular malformations that cause strokes and s

296 s in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations.

297 ents in the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH).

298 indicated in some individuals with seemingly sporadic VHL-related tumor types, as </= 10% of pheochro

299 fresh tumor cells derived from patients with sporadic VS, and an established schwannoma cell line wer

300 We found that cells show sporadic waves of silencing loss in the heterochromatic