ライフサイエンスコーパス: affected with

1 hoprim for 24 h, the microbiota was strongly affected, with (1) up to 21-fold decrease in 16S rRNA ge

2 Tumor number was not affected with 1alpha,25-(OH)(2)-D(3) or vitamin D analog

3 sexual relationships were the most adversely affected with 33%, 26%, and 23% of the women responding

4 HF patients were symptomatically mildly affected, with 8.8% of all LSs classified as New York He

5 Optical depth of focus was not affected with a 3-mm pupil, whereas with a 6-mm pupil, t

6 uded patients with <1 affected tooth, and >2 affected with a clinical AL >/= 6mm.

7 rane potential waveform of the LP neuron was affected with a consistent pattern.

8 Body weight was mildly affected with a delay in reaching mature weight.

9 t a 3-generation pedigree with 5 individuals affected with a dominantly inherited macrothrombocytopen

10 Some of these nuclei are affected with a high number of neuritic plaques without

11 Two siblings affected with a mild form of JS were found to have a hom

12 luded a minimum of three available relatives affected with a psychotic illness and three available un

13 ac-Saint-Jean (SLSJ) region was particularly affected with a rate of 3.4 per 100000 person-years in 2

14 n five children from four unrelated families affected with a similar pattern of severe intellectual d

15 In contrast, the GPi was less affected, with a 38% reduction in overall volume only.

16 ats, many times during the lifetime of those affected, with a bias towards expansion.

17 The rest of the dentition was less affected, with a diagnosis of generalized slight chronic

18 er compounds not present in the extract were affected, with a different behaviour observed depending

19 gene specific; hTERT was most significantly affected, with a higher frequency of MAE in adult and ad

20 Development is affected, with a loss of about 10 developmental quotient

21 Ion exchange was also affected, with a small but significant decrease in hemol

22 The oral cavity is frequently affected, with a wide variety of signs and symptoms that

23 erived thymus/parathyroid primordia was also affected, with absent or hypoplastic primordia, delayed

24 More than 45 million people are affected with acne vulgaris.

25 In this report, we studied a family affected with acrokeratosis verruciformis in six generat

26 ecursor protein (APP) and in the human brain affected with AD.

27 cted high incidence of this DFSP in children affected with adenosine deaminase-deficient severe combi

28 tures of enamel and cementum of feline teeth affected with advanced FORL.

29 togenesis in these mutants was progressively affected with age, resulting in decreased testis weight

30 Humans retinas affected with age-related macular degeneration (AMD) wer

31 It was tested in twins affected with age-related macular degeneration (AMD).

32 is of genomewide linkage studies of families affected with age-related maculopathy (ARM), we previous

33 osis and homeostasis but, unlike individuals affected with ALPS, also have defects in their activatio

34 Individuals affected with ALS4 usually have an onset of symptoms at

35 DNA modification analysis of twins affected with Alzheimer's disease reveals a potential fo

36 years' time, 196 million individuals will be affected with AMD.

37 was detected in German Shorthaired Pointers affected with an allelic disorder.

38 e, we identified seven unrelated individuals affected with an apparent dominant ZSD in whom a heteroz

39 type and genetic information for individuals affected with an ASD and family members is crucial for t

40 however, diastolic parameters were adversely affected with an increase in the left ventricular time c

41 n this study, we investigated eight patients affected with an overlapping genodermatosis after recess

42 In contrast, activation was markedly affected, with an EC(50) of 12.0 +/- 2.5 nM compared wit

43 r molecular layer of dentate) were initially affected, with anterograde progression though the hippoc

44 adolescents are more likely than males to be affected with anxiety disorders, but less likely to have

45 Specifically, macrophages were most affected, with approximately 2.5-fold fewer macrophages

46 ion of NF-kappaB responses, is most commonly affected, with approximately 30% of patients displaying

47 ll siblings and half siblings of individuals affected with ASD born between 1990 and 2003.

48 age 5 years, one third of all children were affected with at least one of the conditions of atopic d

49 s performed on a family with identical twins affected with autism and severe, intractable seizures.

50 ex families, each with at least two siblings affected with autism or ASD phenotype.

51 nome scan of 24 family members, including 14 affected with autoimmune disease, showed significant lin

52 across chromosome 18q12-q22 in 81 sib pairs affected with autoimmune thyroid disease (AITD).

53 candidate approach in a Saudi Arabian family affected with autosomal recessive SCAN1, we identified a

54 ions in several families of Pakistani origin affected with autosomal recessive woolly and sparse hair

55 ng of a DNA sample from a 17-year-old female affected with BBS did not identify any mutation in the k

56 r among families of English descent that are affected with BDB.

57 OX2R(-/-) and orexin(-/-) mice are similarly affected with behaviorally abnormal attacks of non-REM s

58 omain of K(V)7.2 have been found in children affected with benign familial neonatal seizures (R213W m

59 ellite markers in 110 parent-offspring trios affected with bipolar affective disorder (BP).

60 of 200 individuals from 41 families multiply affected with bipolar disorder (BD) to identify contribu

61 Few neuroimaging studies compare individuals affected with bipolar disorder (BP), at high familial ri

62 of puerperal psychosis in families multiply affected with bipolar disorder participating in an ongoi

63 d with schizophrenia and all of the families affected with bipolar disorder were multiply affected wi

64 can of 41 Ashkenazi pedigrees with a proband affected with bipolar I disorder (BPI) and at least one

65 disorder (BPI) and at least one other member affected with BPI or bipolar II disorder (BPII), we iden

66 ubset of pedigrees limited to relative pairs affected with BPI.

67 ein is overexpressed in the breasts of women affected with cancer.

68 ncreased expression in the teeth of patients affected with caries and pulpitis.

69 In contrast, OX2R(-/-) mice are only mildly affected with cataplexy-like attacks of REM sleep, where

70 Individuals with a sibling affected with CD had a 2.03-fold (95% CI, 1.29-3.19) inc

71 ss NHL risk among individuals with a sibling affected with CD suggests shared susceptibility.

72 s in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Leb

73 ugs--and atypical differences in individuals affected with certain clinical disorders (e.g., autism,

74 Finally, we showed in patients affected with cGVHD a higher B-cell division rate that c

75 some 6-linked NCMD (MCDR1) and 2 individuals affected with chromosome 5-linked NCMD (MCDR3).

76 ed on 8 affected individuals from 3 families affected with chromosome 6-linked NCMD (MCDR1) and 2 ind

77 Families with multiple individuals affected with chronic lymphocytic leukemia (CLL) and oth

78 primary marrow cells taken from individuals affected with chronic myeloid leukemia in blast crisis.

79 obese (body mass index >30 kg/m(2)) patients affected with chronic periodontitis.

80 rg200Trp), was identified in all individuals affected with Chuvash polycythemia.

81 vation; in her sister and daughter, who were affected with classic RTT; and in her hemizygous son, wh

82 ic reticulum in fibroblasts from individuals affected with CLSD.

83 those with and without two or more relatives affected with compulsive hoarding.

84 rozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogon

85 ering of specific gene mutations in children affected with congenital central hypoventilation syndrom

86 T2) gene have been identified in individuals affected with congenital generalized lipodystrophy (CGL)

87 We describe a white family with two siblings affected with congenital hypotonia early-onset glaucoma,

88 uited more than 25 families in which members affected with corpus callosum hypoplasia (CCH) lacked sy

89 ed on the proband and first-degree relatives affected with CRC to reduce ascertainment bias and overe

90 A family with 2 children affected with CTE was identified.

91 e mutant alleles, also described in patients affected with CTLN1, interact to produce a range of phen

92 In this report, we studied a family affected with Darier's disease and identified a deletion

93 across the exome sequences of 48 individuals affected with DCM from 17 families to identify genetic c

94 N truncating variants carried by individuals affected with DCM in 7 of 17 DCM families (logarithm of

95 n contrast, myeloid development is adversely affected with decreased in vitro colony formation, decre

96 and epidermal morphogenesis was dramatically affected, with defects in adherens junction formation, i

97 ine homozygous SH2B3 mutations in 2 siblings affected with developmental delay and autoimmunity, one

98 Individuals affected with developmental disorders of speech and lang

99 ial in temporal bone sections of individuals affected with DFNA9.

100 tomography in 1,125 individuals in families affected with diabetes.

101 of 21 patients from the outbreak cohort were affected with diarrhea.

102 Twelve families that were multiply affected with diffuse idiopathic skeletal hyperostosis (

103 However, other brain regions are inevitably affected with disease progression.

104 s ManNAc as a potential treatment for humans affected with disorders of glomerular hyposialylation.

105 ions at residues Glu724 and Asp725 were most affected with double mutations at these sites showing ap

106 A set of individuals affected with DSM-IV OCD, a subset of their parents, and

107 om the Census Bureau, to estimate the number affected with each condition.

108 ccus mutans in plaque biofilms from children affected with early childhood caries.

109 ccus mutans in plaque-biofilms from children affected with early-childhood caries, a prevalent and co

110 enced the complete genomes of 72 individuals affected with early-onset familial Alzheimer's disease c

111 in two CAE-affected persons and two persons affected with EEG-recorded spike and/or sharp wave in a

112 We found that the surface expression is affected, with effects paralleling those seen with the b

113 Individuals affected with either acute or chronic diseases often sho

114 nalysis of a large cohort of cases (n = 269) affected with either classic heterotaxy or looping CVM r

115 ferentiated between unaffected dogs and dogs affected with either mutation with a high degree of cert

116 poA-I 133+/-21 mg/dL) (P<0.0005) or subjects affected with either R1851Q (n=6) (HDL-C 36+/-8; ApoA-I

117 ed in several families with multiple members affected with endometrial carcinoma.

118 Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations

119 e PPT primer, all mutants were significantly affected with F61Y and F61A being most severely impaired

120 All males and female carriers affected with Fabry disease should be followed closely,

121 ontrolled study of 41 subjects genotypically affected with familial adenomatous polyposis but phenoty

122 range, 8 to 25 years) who were genotypically affected with familial adenomatous polyposis but phenoty

123 aps the locus identified in several kindreds affected with familial chondrocalcinosis.

124 Six members affected with familial primary pulmonary hypertension an

125 ALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childho

126 asymptomatic at initial screening, were also affected with FDC at follow-up.

127 encing on two families with multiple members affected with focal epilepsy and linkage analysis on one

128 , complementary results from mice and humans affected with GD1 not only pinpoint sphingosine as being

129 Kidneys are initially affected with generalized proximal tubular dysfunction (

130 Interestingly, cerebellum was the area most affected, with greater myelination impairment and glia b

131 f 96 small families with one or two children affected with GTS was also studied.

132 s of these data reveals that all individuals affected with HBID in both families demonstrate the pres

133 s now apparent that the majority of patients affected with HCM can achieve normal or near-normal life

134 Thirty-one consecutive children affected with Henoch-Schonlein syndrome who were from 3.

135 cancer cells and linkage studies in families affected with hereditary prostate cancer (HPC) have impl

136 In patients affected with HGPPS, we identified mutations in the ROBO

137 ound heterozygous mutations in four siblings affected with HHS, in the gene encoding the regulator of

138 Among families affected with HPC, we identified six rare missense mutat

139 ormations, but males are usually more mildly affected with hypertelorism as the only feature.

140 ologue, EDARADD, that is present in a family affected with hypohidrotic ectodermal dysplasia.

141 olated with increasing frequency from cattle affected with IBK.

142 s pedigree of Arab origin with seven members affected with ID and mild dysmorphic features.

143 from the perspective of cancers in patients affected with IEM and discuss how dysregulation of these

144 gas species on atmospheric particles may be affected, with important implications for climate predic

145 in kinase (MAPK) pathways were predominantly affected, with increased levels of phospho-p38 and phosp

146 amount of medium-range order seems slightly affected with increasing Ag concentration (0, 2, 5 at.%)

147 positive impact on individuals and families affected with inherited eye disease in a number of ways.

148 (ISGs) are overexpressed in human T1D islets affected with insulitis.

149 two-stage genomewide screen of 48 sib pairs affected with intracranial aneurysms (IAs) that revealed

150 ease in a large family with multiple members affected with IS.

151 regarding the molecular genetics of children affected with juvenile dermatomyositis and the impact th

152 VC dechlorination was most affected, with k(max)X values decreasing by a factor of

153 d 17-HDHA were then tested in 62 individuals affected with knee osteoarthritis and 52 age matched con

154 logical features observed in rhesus macaques affected with Krabbe's disease.

155 fibres (<3 microm2) seem to be particularly affected, with large fibres remaining relatively preserv

156 y dispersed collection of families, multiply affected with late onset Alzheimer's disease, who were p

157 Having a parent affected with late-onset Alzheimer's disease (AD) is a r

158 Having a parent affected with late-onset Alzheimer's disease (LOAD) is a

159 e mutation was found in three family members affected with late-onset atypical hemolytic uremic syndr

160 expressivity; while some patients are mildly affected with learning disabilities and subtle craniofac

161 ude du Polymorphisme Humaine and 28 families affected with learning disabilities.

162 patient heterozygous for this null allele is affected with Leber congenital amaurosis, it was surpris

163 by direct sequencing of DNA from 36 patients affected with Leber's congenital amaurosis (LCA), 62 wit

164 ring familial evaluation; 38 were clinically affected with left ventricular hypertrophy >/=13 mm.

165 s identified in a family with three children affected with lethal fetal akinesia sequence.

166 D12S1623 and D12S1057 increased in families affected with LOAD, but, in APOE-epsilon 4-negative fami

167 inal study of families with multiple members affected with LOAD.

168 .0), given at least 2 first-degree relatives affected with lone AF.

169 Unfortunately, children affected with LS often die early of health complications

170 Previously, we hypothesized that cells affected with LSD have increased energy expenditure for

171 g and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provid

172 ogical offspring with 2 previous generations affected with major depression were at highest risk for

173 mpact on the clinical management of families affected with MCPH.

174 pedigree software, that 23 nuclear families affected with MCPHA are connected to a single ancestral

175 ly increased in the brains of human subjects affected with MDD and rats exposed to chronic social def

176 re also present in vessels from human livers affected with metastases.

177 feasible alternative treatment for patients affected with mild/moderate CAEBV infection and that thi

178 d, whereas the 129P3/J mouse strain is least affected, with minimal dental fluorosis.

179 the ARSA gene of fifteen unrelated patients affected with MLD.

180 The selenoprotein population was selectively affected with MMTV-Cre in breast and skin but not in the

181 y intervention in offspring of 2 generations affected with moderate to severely impairing MDD seems w

182 ty-two patients with two contralateral teeth affected with moderate-to-severe CP were selected.

183 erventions in the offspring of 2 generations affected with moderately to severely impairing MDD seem

184 ied a large kindred with several individuals affected with molar oligodontia that was transmitted as

185 e onset of the clinical phenotype; mice were affected with more severe thrombotic lesions.

186 ctivating protein that is absent in a family affected with MRX, is required for dendritic spine morph

187 lear families, comprised of four individuals affected with MS and their HLA-identical siblings.

188 We have studied family N, which is affected with multiple colorectal adenomas and carcinoma

189 extent of surgical intervention in children affected with multiple endocrine neoplasia type 2 will l

190 We report a family with 15 individuals affected with multiple sclerosis present in three and po

191 dings, however, have indicated that patients affected with myofibrillar myopathy have a more distal t

192 drially encoded proteins were differentially affected, with near normal levels of cytochrome c oxidas

193 Data from 28 consecutive patients affected with neovascular AMD that presented subretinal

194 lies with two or more first-degree relatives affected with neuroblastoma to localize a hereditary neu

195 ly developing individuals and in individuals affected with neurodevelopmental disabilities.

196 Clinically, the neurons in layer II are affected with neurofibrillary tangles, one of the two pa

197 atic first cousin parents and three children affected with neurohypophyseal diabetes insipidus, sugge

198 howed that only the extent of inhibition was affected, with no change in agonist potency (EC(50) = 1

199 Labrador retrievers and Samoyeds affected with non-allelic forms of OSD exhibit vitreous

200 tations were detected in 4.4% of individuals affected with non-HPC as compared with 0.8% of unaffecte

201 ased sex ratio, whereas families of probands affected with non-sexually dimorphic autoimmune diseases

202 Exome sequencing in an individual affected with non-syndromic RP revealed two plausibly di

203 ons, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellect

204 nonsense mutations in BCOR in seven families affected with OFCD.

205 ons can be found in the majority of families affected with one of the inherited syndromes, and, most

206 ilies studied, 1,507 had at least one member affected with one of three known forms of CAH, namely sa

207 (D1, D2, and D3 lymphadenectomy) in patients affected with operable gastric carcinoma?

208 skeletal fragility phenotype in individuals affected with osteoporosis-pseudoglioma is inadequate pr

209 We ascertained three different families affected with oto-dental syndrome, a rare but severe aut

210 5(+)FOXP3(+) T(reg) cells in 104 individuals affected with ovarian carcinoma, that human tumor T(reg)

211 In each case, a parent affected with pancreatic cancer also harbored the p16 mu

212 s in which three or more family members were affected with pancreatic cancer, at least two of which w

213 ried out genetic analyses in 201 individuals affected with Parkinson disease and 221 age-matched unaf

214 n, intrinsic optical signals persist in cats affected with PCG.

215 Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogen

216 L in T-cell functional responses in patients affected with pDGS.

217 mous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenita

218 olyps identical to those seen in individuals affected with PJS.

219 we describe two new families in which males affected with PMD were found to have a copy of PLP on th

220 are needed with multiple-ethnic populations affected with POAG to strengthen these findings.

221 All tooth types were affected, with posterior teeth being affected earlier an

222 Percentage of individuals affected with PPCD and controls with an average keratome

223 th VWS and distinct mutations in 13 families affected with PPS.

224 extended families with multiple individuals affected with primary RP (n = 37) were examined for link

225 with the pedigrees having <5 family members affected with prostate cancer (multipoint NPL 3.22, P=.0

226 North American families with > or =3 members affected with prostate cancer (PRCA), we found evidence

227 ly has at least three first-degree relatives affected with prostate cancer.

228 analyzed genome scan data from 161 pedigrees affected with prostate cancer.

229 s of 80 candidate genes in 201 brother pairs affected with prostatic adenocarcinoma.

230 n of CD57 on T cells in the skin of patients affected with psoriasis, comparing lesional and unaffect

231 Studies in families affected with pulmonary fibrosis, smokers with chronic o

232 All age groups are affected with rapidly growing importance in elderly peop

233 to a consanguineous family with one subject affected with RCD and identified a homozygous nonsense m

234 all male with an estimated body surface area affected with RDEB of 4% to 30%.

235 Elongation is particularly affected, with RECQL5 depletion causing a striking incre

236 Signaling in skeletal muscle was similarly affected, with reduced IRS1 phosphorylation (49%), IRS1

237 Sarcolemma was less affected, with reductions of approximately 40% in PIP3 p

238 ontumbling chemotaxis mutant was only weakly affected with regard to biofilm formation under nonflowi

239 We studied families with multiple members affected with renal cancer to delineate clinically disti

240 loss or of restoring the vision of patients affected with retinal degeneration through some type of

241 e has been shown to be up to 25% in subjects affected with rhinitis with persistence, comorbidity and

242 x pedigrees, consisting of 453 subjects (134 affected with RLS).

243 he largest cohort, to date, of simplex males affected with RP or COD/CORD.

244 mortem expression analysis of 33 individuals affected with schizophrenia and 30 unaffected control su

245 Most of the families affected with schizophrenia and all of the families affe

246 implicated in psychotic illness in families affected with schizophrenia or psychotic bipolar disorde

247 family sample of 13 large families multiply affected with schizophrenia, 2 schizophrenia case-contro

248 ish individuals, including 4,877 individuals affected with schizophrenia, in ways informed by exome s

249 cit subtypes are correlated in sibling pairs affected with schizophrenia.

250 ct on bone formation observed in individuals affected with sclerosteosis, along with the data present

251 enrolled in this study, 21 individuals were affected with several congenitally missing permanent tee

252 Plasma was infused into young horses (foals) affected with severe combined immunodeficiency (SCID), f

253 d that APOE-4 carriers are more likely to be affected with severe disease (P=.03), whereas a higher p

254 The whole spinal cord was also severely affected, with shrinkage of the dorsal columns and reduc

255 ygous mice treated with rHRG beta1 were less affected, with significantly lower mortality rates and a

256 participants without skin lesions, patients affected with skin cancers had a significantly increased

257 scopic features of Best disease are probably affected with some other macular disease.

258 ce quotient (approximately 50%) are commonly affected with specific neuropsychological problems, incl

259 However, some patients affected with squamous cell carcinoma (SCC) do not respo

260 hat female reproductive function may also be affected, with subsequent implications for fertility.

261 (OPRM1), among 382 European Americans (EAs) affected with substance dependence [alcohol dependence (

262 PBP4 DD-endopeptidase activity was also affected, with substitution of Asp155, Arg361, and Gln42

263 ation assessing the insurability of families affected with Sudden Arrhythmia Death Syndromes (SADS) f

264 Genetic analyses of families affected with TAA have identified several chromosomal lo

265 that it is likely that multiple pathways are affected with the administration of this drug that needs

266 ltered by TPE-OLD in myoblasts from patients affected with the age-associated genetic disease, facios

267 living members of the House of Hanover were affected with the condition.

268 assified controls (i.e., individuals who are affected with the disease under study but who are classi

269 in individuals who have family members also affected with the disease.

270 affected with bipolar disorder were multiply affected with the illness.

271 Children affected with the inherited tumor predisposition syndrom

272 Individuals affected with the neurofibromatosis 1 (NF1) tumor predis

273 Twelve J-couplings are affected, with the largest being (1)J(C5,C6) ( approxima

274 Increased IL-6 levels are found in tissues affected with these diseases, and KSHV exists in a laten

275 g the morbidity and mortality of individuals affected with these disorders.

276 However, telomerase processivity was affected with these substrates, decreasing in the order

277 o called ABCA4) gene in a subset of patients affected with this complex disorder.

278 cacy of current treatments for those already affected with this disease has prompted the suggestion t

279 ncidence of skin cancer observed in patients affected with this disorder.

280 observed in EC superficial layer and further affected with time.

281 ltures of human fetal cells from pregnancies affected with trisomy 21 (t21) and trisomy 13 (t13).

282 Persons affected with tuberous sclerosis complex (TSC) develop a

283 tinguishing between unaffected dogs and dogs affected with two different forms of inherited retinal d

284 We studied 837 individuals affected with type 2 diabetes and 386 mostly unaffected

285 parametric linkage analysis of 480 sib-pairs affected with type 2 diabetes revealed linkage to a prev

286 multiplex families, including 472 sib-pairs affected with type 2 diabetes.

287 ed with a genome screen on 350 sibling pairs affected with type I diabetes.

288 unrelated patients (2 males and 13 females) affected with typical IH, 12 patients (9 males and 3 fem

289 We have identified 25 pedigrees that are affected with typical JOAG and that demonstrate autosoma

290 Human populations will also be affected, with up to ~2,100 million of the poorest peopl

291 inergic, and classical reticular nuclei were affected with varying degrees of severity and frequencie

292 1.71-2.75; P<.001]) and number of body parts affected with vitiligo (P</=.009) but not laterality (P=

293 Patients affected with von Hippel-Lindau disease are at risk of d

294 in IRF6 in 45 additional unrelated families affected with VWS and distinct mutations in 13 families

295 bors the causative mutation, all individuals affected with WARBM exhibit indistinguishable clinical p

296 In a large family affected with Wilms tumor, 84% of variants uniquely iden

297 Here, we report a patient affected with Wiskott--Aldrich syndrome (WAS) caused by

298 e describe somatic mosaicism in two brothers affected with Wiskott-Aldrich syndrome (WAS).

299 ently reported in a small number of patients affected with Wiskott-Aldrich syndrome (WAS).

300 hown to be the defect in members of a family affected with X-linked sideroblastic anemia with cerebel