ライフサイエンスコーパス: congenital anomaly

1 thral valve (AUV) is a rare but a well-known congenital anomaly.

2 Consanguinity is a major risk factor for congenital anomaly.

3 ionnaire data were available, 386 (3%) had a congenital anomaly.

4 h or without cleft palate (CL/P) is a common congenital anomaly.

5 niopagus (joined at the cranium) have a rare congenital anomaly.

6 trell (POC) is an extremely rare and complex congenital anomaly.

7 ncluding abortion, fetal death in utero, and congenital anomalies.

8 no additional chronic medical conditions or congenital anomalies.

9 ths, elective terminations, stillbirths, and congenital anomalies.

10 posure to omalizumab, including incidence of congenital anomalies.

11 ysis of the facial nerves and variable other congenital anomalies.

12 on to the risk for a range of specific major congenital anomalies.

13 ts born before 27 weeks of gestation without congenital anomalies.

14 is characterized by developmental delay and congenital anomalies.

15 y conotruncal heart defects (CTDs) and other congenital anomalies.

16 rt of subjects with developmental delays and congenital anomalies.

17 es the incidence of these often debilitating congenital anomalies.

18 egistered by EUROCAT, a European Registry of Congenital Anomalies.

19 s9 gene-edited mouse model revealed multiple congenital anomalies.

20 to 2.83 for 0.50+ Gy) was related to risk of congenital anomalies.

21 ndrome characterized by red cell aplasia and congenital anomalies.

22 frequency of hematological abnormalities and congenital anomalies.

23 ed by obesity, retinopathy, polydactyly, and congenital anomalies.

24 weight, neurological status, and presence of congenital anomalies.

25 xencephaly and spina bifida, important human congenital anomalies.

26 are CNVs within patients exhibiting multiple congenital anomalies.

27 syndrome, which is associated with multiple congenital anomalies.

28 terized by pediatric bone marrow failure and congenital anomalies.

29 d in individuals with mental retardation and congenital anomalies.

30 acterized by bone marrow failure and complex congenital anomalies.

31 a better understanding for the mechanism of congenital anomalies.

32 atric abnormalities, dysmorphic features and congenital anomalies.

33 of 788 patients with mental retardation and congenital anomalies.

34 ple lineages and is often defective in human congenital anomalies.

35 ore importantly, how they are pathogenic for congenital anomalies.

36 wide application in screening patients with congenital anomalies.

37 Five infants (6%) had congenital anomalies.

38 rdevelopment of the mammary glands and other congenital anomalies.

39 lectual disability, facial dysmorphisms, and congenital anomalies.

40 a recognizable facial gestalt, and variable congenital anomalies.

41 ts discharged >42 weeks of gestation or with congenital anomalies.

42 ate condition that causes neurocognitive and congenital anomalies.

43 esolution in 273 subjects with a spectrum of congenital anomalies.

44 ing on two distinct outcomes: fetal loss and congenital anomalies.

45 th both neurodevelopmental and extra-cardiac congenital anomalies.

46 iant in FGFR1 in an individual with multiple congenital anomalies.

47 he most prevalent and heterogeneous group of congenital anomalies.

48 ied as harmful for fetal loss and eleven for congenital anomalies.

49 of long-term survival associated with major congenital anomalies.

50 fidence interval [CI] 1.03-1.85, p = 0.031), congenital anomalies (1.29, 95% CI 1.04-1.59, p = 0.019)

51 8% vs. 6.5%, P=0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P=0.008).

52 ers who gave birth to an infant with a major congenital anomaly (41508) between 1979 and 2010, with f

53 -86.3) in individuals born with at least one congenital anomaly, 89.5% (88.4-90.6) for cardiovascular

54 The spectrum of congenital anomalies affecting either the upper tract (k

55 Previously reported patients with congenital anomalies affecting the kidney and urinary tr

56 The rate of major congenital anomalies after exclusion of genetic or cytog

57 ether there is an increased risk of specific congenital anomalies after exposure to antiasthma medica

58 ective cohort analysis of validated cases of congenital anomalies among 4,699 children of 1,128 male

59 Assessment of congenital anomalies among infants born to women enrolle

60 as no evidence of an increased risk of major congenital anomalies among pregnant women exposed to oma

61 is associated with seminal defects and with congenital anomalies and childhood cancers in offspring.

62 ival of individuals born with specific major congenital anomalies and examine the factors associated

63 h unexplained mental retardation, autism, or congenital anomalies and in unaffected persons.

64 anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous

65 s a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the f

66 ic embryology is followed by presentation of congenital anomalies and normal variants.

67 syndrome characterized by erythroid failure, congenital anomalies and predisposition to cancer.

68 gest inverse association with mortality from congenital anomalies and respiratory, endocrine, and car

69 ccording to the European Concerted Action on Congenital Anomalies and Twins (EUROCAT) classification

70 the operative correction of this complicated congenital anomaly and can be safely performed by experi

71 (live births, pregnancy loss, preterm birth, congenital anomalies), and infant growth.

72 sional who has received specific training in congenital anomalies, and (3) standardized physical exam

73 phageal cancer, preterm birth complications, congenital anomalies, and aortic aneurysm.

74 DBA is characterized by anemia, congenital anomalies, and cancer predisposition.

75 d syndromes characterized by marrow failure, congenital anomalies, and cancer predisposition.

76 terized by red cell failure, the presence of congenital anomalies, and cancer predisposition.

77 erstanding the causation and pathogenesis of congenital anomalies, and developing new methods for the

78 Occurrence of preterm birth, congenital anomalies, and growth throughout the first ye

79 s the leading contributor to pregnancy loss, congenital anomalies, and in vitro fertilization (IVF) f

80 e characterized by defective erythropoiesis, congenital anomalies, and increased frequency of cancer.

81 est were spontaneous abortions, stillbirths, congenital anomalies, and neonatal death (serious advers

82 in include ingested foreign bodies, infected congenital anomalies, and perforated peptic ulcer diseas

83 a (CDH) is one of the most common and lethal congenital anomalies, and significant evidence is availa

84 d statistical power to detect differences in congenital anomalies, and the lack of assessment of card

85 e secondary palate is one of the most common congenital anomalies, and the multiple corrective surger

86 ter's experience, the presence of associated congenital anomalies, and the postoperative occurrence o

87 ariable modelling, presence of a non-cardiac congenital anomaly (aOR 5.17, 95% CI 1.9-14.1), abdomina

88 e (eg, valve cell and matrix pathobiology in congenital anomalies, aortic valve calcification, and mi

89 ng the categories of causes of infant death, congenital anomalies (APC = -7.87%), asphyxia-related co

90 Congenital anomalies are a leading cause of infant death

91 Congenital anomalies are a leading cause of infant morta

92 Congenital anomalies are a leading cause of perinatal an

93 Congenital anomalies are a significant burden on human h

94 Cleft lip and other congenital anomalies are also linked indirectly to mater

95 Fetal interventions to diagnose and treat congenital anomalies are growing in popularity but often

96 The genetic causes of multiple congenital anomalies are incompletely understood.

97 Genetic disorders and congenital anomalies are the leading causes of infant mo

98 highest in children of Pakistani origin, and congenital anomalies are the most common cause of death

99 posure: Live birth of an infant with a major congenital anomaly as defined by the European Surveillan

100 The workgroup considered 3 approaches for congenital anomalies assessment that have been developed

101 rome (SMS), a genomic disorder with multiple congenital anomalies associated with a 3.7 Mb heterozygo

102 Poland syndrome (PS) is a rare congenital anomaly associated with absent or hypoplastic

103 ith IBD, the adjusted odds ratios of a major congenital anomaly associated with drug use were 0.82 (9

104 ate no difference in the prevalence of major congenital anomalies between treatment groups.

105 Kismet, result in a complex constellation of congenital anomalies called CHARGE syndrome, which is a

106 Prenatal surgery for congenital anomalies can prevent fetal demise or alter t

107 Conditions such as congenital anomalies, cancers, and trauma can all result

108 have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmenta

109 prenatal antiretroviral (ARV) exposures with congenital anomalies (CAs) in children born to human imm

110 Thus, a congenital anomaly causing chronic inflammation can alte

111 extracted from the European Surveillance of Congenital Anomalies central database for 29 population-

112 evelopmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic f

113 Scimitar syndrome is a rare and complex congenital anomaly characterized by partial or complete

114 y as defined by the European Surveillance of Congenital Anomalies classification system.

115 ate; failure of these processes leads to the congenital anomaly, cleft palate.

116 ed and 33,043 unaffected pregnancies and our congenital anomalies cohort contains 5,658 affected and

117 um stillbirth or neonatal death unrelated to congenital anomaly, compared among the 4 groups.

118 CHARGE syndrome, a rare multiple congenital anomaly condition, is caused by haploinsuffic

119 It is mutated in CHARGE syndrome, a multiple congenital anomaly condition.

120 Overall, 20 infants had congenital anomalies confirmed, 7 (4.4%) of whom had 1 m

121 Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tiss

122 and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource

123 Holoprosencephaly (HPE), a common human congenital anomaly defined by a failure to delineate the

124 ort study of all VLBW infants without severe congenital anomalies delivered in all hospitals in Calif

125 Information about children with at least one congenital anomaly, delivered between 1985 and 2003, was

126 e small for gestational age, stillbirth, and congenital anomalies did not differ significantly betwee

127 Infants who had major congenital anomalies, died during the first 3 days of li

128 CHARGE is a multiple congenital anomaly disorder and a common cause of pubert

129 lso known as 22q11.2 deletion syndrome, is a congenital anomaly disorder characterized by craniofacia

130 syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (p

131 an genome and are associated with many human congenital anomaly disorders.

132 as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizyg

133 yndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by webbing (p

134 , intrauterine growth restriction, and fetal congenital anomalies, either apparent at birth or later

135 ndrome according to European Surveillance of Congenital Anomalies (EUROCAT) guidelines.

136 Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 o

137 ng 15 of 16 uroepithelial malignancies, five congenital anomalies, five urinary tract calculi, and 18

138 Cerebellar malformations are diverse congenital anomalies frequently associated with developm

139 Congenital anomalies frequently occur in organs that und

140 the ureteropelvic junction (UPJ) is a common congenital anomaly frequently associated with ureteral d

141 he data set included 76,249 registrations of congenital anomalies from 13 EUROmediCAT registries.

142 l mothers who delivered babies without major congenital anomalies from 1997 to 2005.

143 ival varied between subtypes within the same congenital anomaly group.

144 Estimates of survival for congenital anomaly groups and subtypes will be valuable

145 in care have improved the prognosis for some congenital anomaly groups and subtypes, but there remain

146 urvival up to 20 years of age for a range of congenital anomaly groups and subtypes.

147 though infant survival of children born with congenital anomalies has improved for many anomaly types

148 esponsible for a condition known as multiple congenital anomalies-hypotonia-seizures syndrome 2.

149 Other congenital anomalies identified included omphalocele, je

150 We investigated the incidence of congenital anomalies in a large multiethnic birth cohort

151 th weight in an infant, preterm delivery, or congenital anomalies in an infant) (23.6% vs. 17.0%; dif

152 nhancer mediated transcription, and that the congenital anomalies in CHARGE syndrome are due to alter

153 Concerns persist about the risk of major congenital anomalies in children of women with inflammat

154 in which account for some of the most common congenital anomalies in humans.

155 external genitalia are among the most common congenital anomalies in humans.

156 ntal pathways frequently result in inherited congenital anomalies in humans.

157 r human development: mutations in TBX3 cause congenital anomalies in patients with ulnar-mammary synd

158 ital anomalies, though there were four major congenital anomalies in the letrozole group versus one i

159 gestation contribute to the risk of selected congenital anomalies in the San Joaquin Valley of Califo

160 tube defects are among the most common major congenital anomalies in the United States and may lead t

161 eural tube defects are among the most common congenital anomalies in the United States.

162 hort to identify the causes of the excess of congenital anomalies in this community.

163 liogenesis or cilial function cause multiple congenital anomalies in vertebrates.

164 Risks of a major congenital anomaly in 1703 children of mothers with IBD

165 We calculated risks of major congenital anomaly in children of mothers with and witho

166 ring pregnancy increases the risk of a major congenital anomaly in children.

167 nital heart disease (CHD) is the most common congenital anomaly in newborn babies.

168 al demise, prematurity, low birth weight and congenital anomaly) in HIV-infected pregnant women enrol

169 fetal demise, prematurity, low birth weight, congenital anomaly) in pregnant women living with HIV en

170 recessive disorder characterized by multiple congenital anomalies including craniofacial abnormalitie

171 cy leads to Mowat-Wilson syndrome, a complex congenital anomaly including intellectual disability, ep

172 otein 7, in CHARGE syndrome lead to multiple congenital anomalies, including craniofacial malformatio

173 intellectual disability (XLID) and multiple congenital anomalies, including craniofacial, musculoske

174 They exhibited multiple congenital anomalies, including heart defects, cleft pal

175 e, during, and early after fetal surgery for congenital anomalies, including repair of myelomeningoce

176 ocephalic primordial dwarfism and additional congenital anomalies, including retinopathy, thereby ext

177 needs for reconstruction of tissues lost in congenital anomalies, infections, trauma, or tumor resec

178 Aberrant R/subclavian artery is a rare congenital anomaly involving aortic arch.

179 How folate reduces the risks of congenital anomalies is unknown.

180 for families and health professionals when a congenital anomaly is detected, and will assist in plann

181 l abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication

182 While congenital anomalies like duplication cysts and divertic

183 Syndromic cases, featuring additional congenital anomalies, make up 15% of CS.

184 bination of current pregnancy complications, congenital anomalies, maternal characteristics, and medi

185 nting diseases categories in trauma, cancer, congenital anomalies, maternal/reproductive health, agin

186 autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).

187 rmalities typically associated with multiple congenital anomalies (MCA).

188 Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associate

189 Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associate

190 y was associated with a doubling of risk for congenital anomaly (multivariate RR 2.19, 95% CI 1.67-2.

191 eonatal encephalopathy (n = 17) and multiple congenital anomalies (n = 14).

192 y disease (n = 40), cardiomyopathy (n = 14), congenital anomaly (n = 17), or "other" (n = 7).

193 nancy was associated with higher odds of any congenital anomaly (N=23,300, k=11; prevalence=4.1%, k=1

194 ls with neurodevelopmental presentations and congenital anomalies (ND/CAs), i.e., the analysis of seq

195 s) during pregnancy has been associated with congenital anomalies, neonatal withdrawal syndrome, and

196 e risk was also not significantly higher for congenital anomalies, neoplasm, or vision or hearing los

197 onatal death within 28 days of birth and any congenital anomaly, neoplasm, and hearing or vision loss

198 terized by intellectual disability, multiple congenital anomalies, obesity, neurobehavioral abnormali

199 9%; 170 babies), pregnancy complications and congenital anomalies occurred in 13 (11.6%) and 2 (1.8%)

200 Congenital anomalies occurred in 175 of 2580 children, y

201 servations: We reviewed published reports of congenital anomalies occurring in fetuses or infants wit

202 Congenital anomalies of kidney and urinary tract (CAKUT)

203 n several congenital diseases such as CAKUT (Congenital anomalies of kidney and urinary tract) and es

204 Molecular mechanisms that lead to congenital anomalies of kidneys and the lower urinary tr

205 ptor tyrosine kinase RET are associated with congenital anomalies of kidneys or urinary tract (CAKUT)

206 sly shown to produce features reminiscent of congenital anomalies of kidneys or urinary tract (CAKUT)

207 Although congenital anomalies of seminal vesicles are usually asy

208 Congenital anomalies of seminal vesicles include agenesi

209 c relationship with other urogenital organs, congenital anomalies of seminal vesicles may accompany o

210 imaging findings and clinical importance of congenital anomalies of seminal vesicles with images of

211 Congenital anomalies of the aortic valve are common and

212 ular and cellular mechanisms for many common congenital anomalies of the genitourinary tract.

213 e VUJ, which are frequent in the spectrum of congenital anomalies of the kidney and the urinary tract

214 Congenital anomalies of the kidney and urinary tract (CA

215 Congenital anomalies of the kidney and urinary tract (CA

216 PURPOSE OF REVIEW: Congenital anomalies of the kidney and urinary tract (CA

217 Congenital anomalies of the kidney and urinary tract (CA

218 Congenital anomalies of the kidney and urinary tract (CA

219 Congenital anomalies of the kidney and urinary tract (CA

220 Congenital anomalies of the kidney and urinary tract (CA

221 Congenital anomalies of the kidney and urinary tract (CA

222 Congenital anomalies of the kidney and urinary tract (CA

223 gnaling pathway are a major genetic cause of congenital anomalies of the kidney and urinary tract (CA

224 Congenital anomalies of the kidney and urinary tract (CA

225 Congenital anomalies of the kidney and urinary tract (CA

226 Congenital anomalies of the kidney and urinary tract (CA

227 rotic syndrome (nine out of 21 individuals), congenital anomalies of the kidney and urinary tract (te

228 ctual disability, developmental delay and/or congenital anomalies of the kidney and urinary tract.

229 Congenital anomalies of the kidneys and urinary tract (C

230 Congenital anomalies of the kidneys and urinary tract (C

231 Congenital anomalies of the kidneys and urinary tract (C

232 Renal diagnoses included congenital anomalies of the kidneys and urinary tract (n

233 is heterogeneous and not uncommonly includes congenital anomalies of the mitral valve apparatus for w

234 AUV may be associated with other congenital anomalies of the urinary system; therefore a

235 rparathyroidism, elevated liver enzymes, and congenital anomalies of the urogenital tract.

236 circumflex artery (LCX) is an extremely rare congenital anomaly of the coronary circulation.

237 Hirschsprung's disease (HSCR) is a severe congenital anomaly of the enteric nervous system (ENS) c

238 sicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract,

239 Abernethy malformation is a rare congenital anomaly of the portal vein where the portal b

240 HWW syndrome is a very rare congenital anomaly of urogenital tract involving Mulleri

241 lly valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype resu

242 22 and 44 weeks, and excluded deaths due to congenital anomalies or isoimmunisation.

243 fferences among groups in the frequencies of congenital anomalies or major fetal and neonatal complic

244 Infants with lethal congenital anomalies or major ocular abnormalities were

245 Congenital anomalies or scarring from previous surgeries

246 Infants were ineligible if they had major congenital anomalies or severe RDS requiring early intub

247 ry low certainty of evidence for the RCT) or congenital anomalies (OR 1.69 [95% CI 0.83-3.41] with ve

248 eporting on the safety (primary outcome, any congenital anomaly) or efficacy (primary outcome, mood r

249 Infants with prolonged hypoglycemia, congenital anomalies, or chromosomal abnormalities were

250 g accuracy of 91% for fetal loss and 87% for congenital anomalies outperforming null models.

251 vement in survival of children with specific congenital anomalies over the last few decades and predi

252 nt predictors of longer hospitalization were congenital anomaly (P<.0001), lower weight on admission

253 comprises premature birth, low-birth-weight, congenital anomalies, perinatal asphyxia, postsurgical,

254 inine and creatinine kinase levels, rates of congenital anomaly, premature birth, and growth paramete

255 To date, proportions of major congenital anomalies, prematurity, low birth weight, and

256 tcomes of interest were perinatal mortality, congenital anomalies, preterm birth, postterm birth, sma

257 e risk of miscarriage, stillbirth, and major congenital anomaly (primary outcomes) among first-trimes

258 stability disorder characterized by multiple congenital anomalies, progressive bone marrow failure, a

259 t trend with radiation dose in the number of congenital anomalies recorded in offspring of female pat

260 ies central database for 29 population-based congenital anomaly registries in 16 European countries c

261 mal rearrangements in individuals with major congenital anomalies represent natural experiments of ge

262 underlying causes were identified, including congenital anomalies; respiratory, endocrine, cardiovasc

263 are not at significantly increased risk for congenital anomalies stemming from their parent's exposu

264 on of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformati

265 Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by distinctive

266 major features of the SMG9-related multiple congenital anomaly syndrome we observed in humans.

267 of histone-modification enzymes in multiple-congenital-anomaly syndromes, and further illustrate the

268 and their offspring are more likely to have congenital anomalies than offspring in the general popul

269 Disorders of sex development (DSDs) are congenital anomalies that affect sexual differentiation

270 also characterized by growth retardation and congenital anomalies that are present in approximately 3

271 rome of intellectual disability and multiple congenital anomalies that features generalized craniotub

272 ave important implications for understanding congenital anomalies that may be causative for adult-ons

273 ectal malformations are uncommon but complex congenital anomalies that require an individualised stra

274 rtery with an interarterial course is a rare congenital anomaly that carries an increased risk of sud

275 Craniofacial microsomia (CFM) is a rare congenital anomaly that involves immature derivatives fr

276 Pancreas divisum is an uncommon congenital anomaly that may result in chronic pancreatit

277 ) without significant differences in overall congenital anomalies, though there were four major conge

278 research on approaches to the assessment of congenital anomalies to better guide investigators in op

279 cable diseases, the relative contribution of congenital anomalies to child mortality is increasing.

280 l, oral, and craniofacial structures lost to congenital anomalies, trauma, and diseases.

281 orted predictors of reduced survival for any congenital anomaly type.

282 41 studies (n = 54,676) investigating eight congenital anomaly types (spina bifida [n = 7,422], ence

283 aries and related these exposures to risk of congenital anomalies using logistic regression.

284 among 41508 mothers of a child with a major congenital anomaly vs 10112 deaths (1.27 per 1000 person

285 in the EXPECT study, the prevalence of major congenital anomalies was 8.1%, which was similar to the

286 neous families in which a similar pattern of congenital anomalies was found to be most likely caused

287 The prevalence of major congenital anomalies was similar for first-trimester art

288 nce: In Denmark, having a child with a major congenital anomaly was associated with a small but stati

289 whether birth of an infant born with a major congenital anomaly was associated with higher maternal r

290 Congenital anomalies were considered in the context of t

291 Altogether, 17 congenital anomalies were observed (narrowing of the int

292 Rates for congenital anomaly were 305.74 per 10,000 livebirths, co

293 13,758 cases of congenital anomaly were notified to NorCAS between 1985

294 akes this technology ideal for children with congenital anomalies who often require reconstructive pr

295 e notion that earlier surgical correction of congenital anomalies will lead to improved outcomes perm

296 egarding the optimal method of assessment of congenital anomalies will likely vary depending on the c

297 ylation and deacetylation result in multiple congenital anomalies with most individuals displaying si

298 way malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasound fe

299 year of life) of children born with a major congenital anomaly with the follow-up starting from birt

300 Urethral valves are infravesical congenital anomalies, with the posterior urethral valve