ライフサイエンスコーパス: congenital anomaly

1 Consanguinity is a major risk factor for congenital anomaly.

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

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

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

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

6 es the incidence of these often debilitating congenital anomalies.

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

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

9 ndrome characterized by red cell aplasia and congenital anomalies.

10 frequency of hematological abnormalities and congenital anomalies.

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

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

13 xencephaly and spina bifida, important human congenital anomalies.

14 are CNVs within patients exhibiting multiple congenital anomalies.

15 syndrome, which is associated with multiple congenital anomalies.

16 terized by pediatric bone marrow failure and congenital anomalies.

17 th both neurodevelopmental and extra-cardiac congenital anomalies.

18 d in individuals with mental retardation and congenital anomalies.

19 acterized by bone marrow failure and complex congenital anomalies.

20 a better understanding for the mechanism of congenital anomalies.

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

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

23 atric abnormalities, dysmorphic features and congenital anomalies.

24 of 788 patients with mental retardation and congenital anomalies.

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

26 wide application in screening patients with congenital anomalies.

27 Five infants (6%) had congenital anomalies.

28 rdevelopment of the mammary glands and other congenital anomalies.

29 he most prevalent and heterogeneous group of congenital anomalies.

30 obesity, gender, and, in selected subgroups, congenital anomalies.

31 hways has been associated with various human congenital anomalies.

32 tal aneusomy among 11 children with multiple congenital anomalies.

33 ducated) women, particularly for deaths from congenital anomalies.

34 al tube defects are common and serious human congenital anomalies.

35 or if they are associated with other complex congenital anomalies.

36 Five patients had additional associated congenital anomalies.

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

38 ulosis, measles, road-traffic accidents, and congenital anomalies.

39 ho do not seem to be at an increased risk of congenital anomalies.

40 iazepines may increase the relative risk for congenital anomalies.

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

42 no additional chronic medical conditions or congenital anomalies.

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

44 posure to omalizumab, including incidence of congenital anomalies.

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

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

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

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

49 is characterized by developmental delay and congenital anomalies.

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

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

52 sociated with a significantly raised risk of congenital anomaly (295 cases/511 controls living 0-3 km

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

54 -86.3) in individuals born with at least one congenital anomaly, 89.5% (88.4-90.6) for cardiovascular

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

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

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

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

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

60 rol), although there were significantly more congenital anomalies among children born to fathers with

61 Assessment of congenital anomalies among infants born to women enrolle

62 rminations of pregnancy with non-chromosomal congenital anomalies and 2366 control births without mal

63 of selected causes of fetal death other than congenital anomalies and 611 non-cases.

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

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

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

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

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

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

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

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

72 of whether the association of raised risk of congenital anomaly and residence near landfill sites is

73 The risk was higher for stillbirths with congenital anomaly and was highest for the nine stillbir

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

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

76 sorder characterized by bone marrow failure, congenital anomalies, and a predisposition to malignancy

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

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

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

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

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

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

83 minority groups, and associated with low BW, congenital anomalies, and major hemorrhage.

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

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

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

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

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

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

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

91 autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and cancer suscep

92 Congenital anomalies are a leading cause of infant death

93 Congenital anomalies are a leading cause of infant morta

94 Congenital anomalies are a leading cause of perinatal an

95 Congenital anomalies are a significant burden on human h

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

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

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

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

100 authors investigated the recurrence risk of congenital anomalies as a function of changes in genetic

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

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

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

104 acterized by mental retardation and multiple congenital anomalies associated with del(17)(p11.2).

105 s syndrome (SMS), and mental retardation and congenital anomalies associated with partial duplication

106 ulticentre case-control study of the risk of congenital anomalies associated with residence near haza

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

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

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

110 his report describes an infant with multiple congenital anomalies born to a 20-year-old mother with j

111 tero may increase the risk for some specific congenital anomalies, but the rate of occurrence of thes

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

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

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

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

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

117 Thus, a congenital anomaly causing chronic inflammation can alte

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

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

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

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

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

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

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

125 d approximately 7-10% of these patients have congenital anomalies comprising the "polysplenia syndrom

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

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

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

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

130 (RVOT), "small pulmonary arteries," multiple congenital anomalies, critical illnesses (CI), which inc

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

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

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

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

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

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

137 l syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 2

138 re susceptible to der(22) syndrome, a severe congenital anomaly disorder caused by 3&rcolon;1 meiotic

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

140 s the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome

141 e to rearrangements that are associated with congenital anomaly disorders and malignant tumors.

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

143 Three congenital anomaly disorders, cat-eye syndrome, der() sy

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

145 r of rearrangements that are associated with congenital anomaly disorders.

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

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

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

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

150 Congenital anomalies frequently occur in organs that und

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

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

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

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

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

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

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

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

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

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

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

162 e used data from seven regional registers of congenital anomalies in five countries.

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

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

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

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

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

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

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

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

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

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

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

174 This study shows a raised risk of congenital anomaly in babies whose mothers live close to

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

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

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

178 recessive disorder characterized by multiple congenital anomalies including craniofacial abnormalitie

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

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

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

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

183 is a rare disorder associated with multiple congenital anomalies, including profound mental retardat

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

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

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

187 y history, outcome, infant birth weight, and congenital anomalies information for all clinically reco

188 A male child with multiple congenital anomalies initially was clinically diagnosed

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

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

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

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

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

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

195 Smith-Magenis syndrome (SMS) is a multiple congenital anomalies, mental retardation syndrome associ

196 A multiple congenital anomaly-mental retardation syndrome (BPNH/MR)

197 (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused

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

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

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

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

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

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

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

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

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

207 Congenital anomalies occurred in 175 of 2580 children, y

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

209 Congenital anomalies of kidney and urinary tract (CAKUT)

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

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

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

213 Congenital anomalies of the aortic valve are common and

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

215 Congenital anomalies of the hand and forearm remain a co

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

217 PURPOSE OF REVIEW: 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 h penetrance, abnormalities that mimic human congenital anomalies of the kidney and urinary tract (CA

221 ype 2 receptor gene null mutant mice display congenital anomalies of the kidney and urinary tract (CA

222 Congenital anomalies of the kidney and urinary tract (CA

223 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 kidneys and urinary tract (C

227 Congenital anomalies of the kidneys and urinary tract (C

228 Congenital anomalies of the kidneys and urinary tract (C

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

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

231 of disorders affecting this nerve, including congenital anomalies of the optic disc, dominant heredit

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

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

234 spectrum disorders, in association with the congenital anomalies of VCFS and its occurrence among no

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

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

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

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

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

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

241 22 and 44 weeks, and excluded deaths due to congenital anomalies or isoimmunisation.

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

243 Infants with lethal congenital anomalies or major ocular abnormalities were

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

245 ional age (OR = 1.26; 95% CI, 1.10 to 1.45), congenital anomalies (OR = 1.37; 95% CI, 1.12 to 1.68),

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

247 fants less than age 6 months who had various congenital anomalies other than oral clefts, neural tube

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

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

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

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

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

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

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

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

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

257 hich is not different from the 13% of single congenital anomalies reported for the general population

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

259 n retinoid involvement in schizophrenia: (i) congenital anomalies similar to those caused by retinoid

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

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

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

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

264 CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic

265 here they occur as one component of multiple congenital anomaly syndromes, have Mendelian or teratoge

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

285 Congenital anomalies were considered in the context of t

286 Congenital anomalies were seen among two of 52 (3.8%) li

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

288 13,758 cases of congenital anomaly were notified to NorCAS between 1985

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

290 ary venous connection (PAPVC) is an uncommon congenital anomaly whose diagnosis has classically been

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

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

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

294 syndromic cleft palate only (CPO) are common congenital anomalies with significant medical, psycholog

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

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