ライフサイエンスコーパス: malformation

1 n addition to its suggested role in cortical malformation.

2 a cardiomyopathy phenotype or cardiovascular malformation.

3 alformation (DWM), a common human cerebellar malformation.

4 enetic aetiology of this common craniofacial malformation.

5 oping teeth and MMP20 mutations cause enamel malformation.

6 son exon in NPCs and causes a brain-specific malformation.

7 iology of orofacial clefts, a frequent birth malformation.

8 r research into craniofacial development and malformation.

9 sk of pregnancy loss, neonatal mortality, or malformation.

10 rent risks depending on the specific type of malformation.

11 differentiating high- and low-flow vascular malformations.

12 KD in children, featuring a broad variety of malformations.

13 ith sporadically occurring multifocal venous malformations.

14 mission with risk of latent microcephaly and malformations.

15 ing early pregnancy and fetal cardiovascular malformations.

16 on, feeding problems, and various congenital malformations.

17 months of pregnancy and fetal cardiovascular malformations.

18 al interpretation of genetic studies of limb malformations.

19 acial features, heart defects, and vertebral malformations.

20 o PM10 and the risks of fetal cardiovascular malformations.

21 arrying fetuses with fetal growth-associated malformations.

22 pathological mechanisms leading to cortical malformations.

23 ainly characterized by craniofacial and limb malformations.

24 ts with frontonasal dysplasia and additional malformations.

25 blue rubber bleb nevus and sporadic vascular malformations.

26 secondary endpoints were neonatal deaths and malformations.

27 preventing congenital central nervous system malformations.

28 utations cause myelination defects and brain malformations.

29 at has previously been associated with tooth malformations.

30 he risk of SGA/spontaneous abortions/overall malformations.

31 l life could increase the risk of congenital malformations.

32 mplications and fetal central nervous system malformations.

33 s mutations in Nkx2.5 that cause human heart malformations.

34 vices (LVADs) and is caused by arteriovenous malformations.

35 usculoskeletal abnormalities, and congenital malformations.

36 entified to date, including cases with brain malformations.

37 valve dysplasia, and deafness with inner ear malformations.

38 with heterotaxy and complex congenital heart malformations.

39 pplication to the classification of skeletal malformations.

40 therapies and vaccines to prevent congenital malformations.

41 dy power was limited in analyses of specific malformations.

42 reatment on miscarriage and major congenital malformations.

43 bility and a broad spectrum of developmental malformations.

44 phatic malformations, and 6 lymphaticovenous malformations.

45 h disordered sexual development and skeletal malformations.

46 cephaly, and/or Central Nervous System (CNS) malformations.

47 s, such as microcephaly and other congenital malformations.

48 ed incidence of fetal microcephaly and brain malformations.

49 mptoms but an absence of frontonasal or limb malformations.

50 owledge, have not been described in vascular malformations.

51 re neurological complications and congenital malformations.

52 es in which a person had multiple congenital malformations.

53 ocephaly and a wide spectrum of severe brain malformations.

54 lity, abnormal genitalia, and structural CNS malformations.

55 er eukaryotes, including split hand and foot malformation 1 in humans.

56 Q186H mutation linked to split hand and foot malformation 1 likely affects affinity of DNA binding by

57 bolic diseases (11 of 14 [78.6%]), and brain malformations (20 of 61 [32.8%]).

58 There were no significant increased risks of malformation (3.9% vs. 2.6%, P = 0.49) in MPA exposed ve

59 There were 28 specimens of venous malformations, 4 capillary hemangiomas, 7 lymphatic malf

60 002 and P < .001, respectively) and Chiari I malformations (9.3%; P < .299 and P < .002, respectively

61 loss of function leads to cerebral cavernous malformation, a cerebrovascular dysplasia occurring in u

62 rall birth defects and cardiovascular system malformation among live births, and this risk is signifi

63 The adjusted risk ratio for cardiac malformations among infants exposed to lithium as compar

64 We examined the risk of cardiac malformations among infants exposed to lithium during th

65 s established to determine the risk of major malformations among infants exposed to second-generation

66 ngenital heart defects are the most frequent malformations among newborns and a frequent cause of mor

67 cephaly is an important sign of neurological malformation and a predictor of future disability.

68 We report that IP6K1 deletion leads to brain malformation and abnormalities of neuronal migration.

69 metaphase, an anaphase delay prevents tissue malformation and apoptosis.

70 spects of caring for patients with anorectal malformation and offer insights into various management

71 stinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dyst

72 t the first case of a patient with Abernethy malformation and tetralogy of Fallot associated with nod

73 e molecular pathogenesis of hepatic vascular malformation and the safety of therapeutics inhibiting N

74 gulate Wnt signaling can result in embryonic malformations and cancer, highlighting the important rol

75 tes to common diseases, including congenital malformations and cancer.

76 ases such as fetal growth restriction, fetal malformations and cancer.

77 ases such as fetal growth restriction, fetal malformations and cancer.

78 transition, and provide an overview of root malformations and diseases in humans.

79 While congenital malformations and genetic diseases are a leading cause o

80 bx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple orga

81 are among the most common human craniofacial malformations and involve multiple genetic and environme

82 life is strongly associated with structural malformations and linked to intrauterine growth restrict

83 rus syndrome (cZVS), which includes cortical malformations and microcephaly.

84 omic disorders that predispose them to organ malformations and neurocognitive impairment.

85 x3 in development are evident by severe limb malformations and other birth defects caused by T-box3 m

86 rax) frequently accompanies lymphatic vessel malformations and other conditions with lymphatic defect

87 trimester is the time window of interest for malformations and spontaneous abortion (organogenesis),

88 val exposures included cardiac edema, spinal malformation, and craniofacial deformities and there wer

89 estations including microcephaly, congenital malformation, and Guillain-Barre syndrome, Zika virus (Z

90 developmental retardation and morphological malformation, and led to potent angiogenic defects in ze

91 ations, 4 capillary hemangiomas, 7 lymphatic malformations, and 6 lymphaticovenous malformations.

92 arying degrees of developmental delay, brain malformations, and additional phenotypes.

93 opathy with burst suppression, without brain malformations, and demonstrate feasibility of genetic di

94 diseases, including microcephaly, congenital malformations, and Guillain-Barre syndrome.

95 ted with reports of microcephaly, congenital malformations, and Guillain-Barre syndrome.

96 ect the developing fetus to cause congenital malformations, and its association with Guillain-Barre s

97 nisms can cause microcephaly and other brain malformations, and understanding them is critical to des

98 3; 1.06, 3.24], overall fetal cardiovascular malformations (aOR = 1.28; 95% CI: 1.03, 1.61), ventricu

99 s, congenital heart disease and craniofacial malformations are major causes of mortality and morbidit

100 Vascular malformations are non-neoplastic expansions of blood ves

101 In addition, many vascular malformations are related to deregulation of TGF-beta/BM

102 Anorectal malformations are uncommon but complex congenital anomal

103 1.19), stillbirth (ARR, 1.11), or congenital malformation (ARR, 0.90).

104 30; 95% CI, 1.07-1.57) but not of congenital malformation (ARR, 1.00; 95% CI, 0.83-1.20) or stillbirt

105 RR, 1.42; 95% CI, 1.17-1.73), any congenital malformation (aRR, 1.48; 95% CI, 1.35-1.62), major malfo

106 mation (aRR, 1.48; 95% CI, 1.35-1.62), major malformations (aRR, 1.61; 95% CI, 1.43-1.81), asphyxia-r

107 Capillary malformation-arteriovenous malformation (CM-AVM) is a bl

108 - 14.4%) leading to a diagnosis of capillary malformation/arteriovenous malformation type 1.

109 Viewing atherosclerosis and vascular malformations as instances of pathological morphogenesis

110 include congenital hypotonia, structural CNS malformations, ataxia, and genitourinary abnormalities.

111 Arteriovenous malformation (AVM) is a fast-flow, congenital vascular a

112 e prediction for patients with arteriovenous malformation (AVM)-related intracerebral haemorrhage (IC

113 ctic radiosurgery for cerebral arteriovenous malformations (AVMs).

114 in sporadically occurring multifocal venous malformation: both cause ligand-independent activation o

115 Congenital malformations can be manifested as combinations of pheno

116 eports were searched for the terms cavernous malformation, cavernous angioma, and cavernoma.

117 The prevalence of cerebral cavernous malformation (CCM) is unknown.

118 telangiectasia (HHT) and cerebral cavernous malformation (CCM).

119 ith sporadic, nonfamilial cerebral cavernous malformation (CCM).

120 of the vascular disorder Cerebral Cavernous Malformation (CCM).

121 the most common cause of cerebral cavernous malformation (CCM).

122 Cerebral cavernous malformations (CCMs) are a cause of stroke and seizure f

123 Cerebral cavernous malformations (CCMs) are common inherited and sporadic v

124 Cerebral cavernous malformations (CCMs) are common vascular anomalies that

125 Primary microcephaly is a congenital brain malformation characterized by a head circumference less

126 Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (L

127 terized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typ

128 n the stapes cartilage template, with stapes malformations correlating with hearing loss across all f

129 spring, although risk increases for specific malformations could not be ruled out completely.

130 Congenital pulmonary airway malformation (CPAM) is a relatively rare congenital anom

131 Congenital pulmonary airway malformation (CPAM) is an uncommon foetal anomaly with a

132 isk cluster the prevalence of nervous system malformation decreased by approximately 2.71%, and the p

133 and have increased risk of congenital fetal malformations, delivery of large for gestational age inf

134 ious stages of development, leading to brain malformations, developmental delay, intellectual disabil

135 , abnormal branchial arch derivatives, heart malformations, diaphragmatic hernia, renal hypoplasia an

136 tion of Trp63, a known split-hand/split-foot malformation disease gene.

137 Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, whic

138 Microcephaly is a cortical malformation disorder characterized by an abnormally sma

139 one of the clinical signs of this congenital malformation disorder.

140 Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the

141 Its malformation during development and degeneration in adul

142 s that is associated with fetal CNS-damaging malformations during pregnancy in humans.

143 FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformati

144 ssociated with increased rates of congenital malformations (eg, spina bifida, cardiac anomalies).

145 LBW and LBW groups, respectively; congenital malformations explained 36% and 23% in the LBW group and

146 y, neural tube defects and other early brain malformations, eye abnormalities, and other central nerv

147 e characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental del

148 associated with familial cerebral cavernous malformations (fCCMs) in carriers of the CCM1 Common His

149 between maternal symptoms and observed fetal malformations following infection has been missing.

150 s must identify the MRI features of vascular malformations for better diagnosis and classification.

151 ctions (without data on parasite infection), malformation frequency was best predicted by the presenc

152 babies (aged 1 h to 48 h, without congenital malformations) from hospital-based and community-based d

153 ed by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomoni

154 s (ZIKV) and its association with congenital malformations has prompted the rapid development of vacc

155 isotype previously associated with cortical malformations, has altered function compared with Tuba1a

156 l therapeutic targets against these vascular malformations identified so far, as well as their basis

157 nder-recognised, infectious cause of newborn malformation in developed countries.

158 orting varying risk estimates for congenital malformation in offspring of mothers undergoing vaccinat

159 not seem to be linked to overall congenital malformation in offspring, although risk increases for s

160 However, bone malformation in orthopedic surgery is a lingering issue,

161 niosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse p

162 estone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial

163 mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss.

164 usion, we found higher risks of both genital malformations in boys born with a low placental weight.

165 g pregnancy associated with major congenital malformations in children?

166 utations identified in humans diagnosed with malformations in cortical development (MCD) or spinal mu

167 function and has been associated with heart malformations in developing fish.

168 erventional approach to preventing embryonic malformations in diabetic pregnancies.

169 lates gene expression, and reduces embryonic malformations in diabetic pregnancy.

170 tion, acquired regeneration capacity or limb malformations in diverse species, including humans.

171 is caused a deficiency of NAD and congenital malformations in humans and mice.

172 V development in mammals and describe venous malformations in humans with craniosynostosis and TWIST1

173 between abnormal vitamin A levels and renal malformations in humans, and suggest a possible gene-env

174 insight into the genetic landscape of kidney malformations in humans, presents multiple candidates, a

175 n isotype TUBA1A is associated with cortical malformations in humans.

176 iated with microcephaly and other congenital malformations in infants as well as Guillain-Barre syndr

177 horoidal coloboma and endoderm-derived organ malformations in liver, lung and gastrointestinal tract

178 pplementation during gestation prevented the malformations in mice.

179 lts and the retrospective description of CNS malformations in neonates, the isolation of Zika virus i

180 lopment of the skull producing morphological malformations in newborns.

181 (CZS) is known to be associated with severe malformations in newborns.

182 or reduce the expressivity and penetrance of malformations in pregnancies in women with diabetes rema

183 , which is consistent with the lack of gross malformations in S1pr2(-/-) mice, whereas family DEM4154

184 ons of PM10 levels with these cardiovascular malformations in the other time periods of gestation wer

185 th, small for gestational age, or congenital malformations) in women who underwent endoscopy just bef

186 ved from the market because it caused severe malformations including CHDs.

187 with preterm birth, infection, hypoxia, and malformations including congenital diaphragmatic hernia

188 , structural brain abnormalities, congenital malformations including congenital heart disease, and mu

189 cy, exhibit a small eye defect, and systemic malformations including hydrocephaly and cardiac edema,

190 with Zika virus (ZIKV) can cause congenital malformations including microcephaly, which has focused

191 ility, increased frequency of internal organ malformations (including those of the heart and the rena

192 associated with an increased risk of cardiac malformations, including Ebstein's anomaly; the magnitud

193 zil, the virus has been linked to congenital malformations, including microcephaly and other severe n

194 different congenital central nervous system malformations, including microcephaly as well as arthrog

195 ac transcription factor NKX2-5 cause cardiac malformations, including muscular VSDs.

196 Brain malformations involving the corpus callosum are common i

197 A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidit

198 It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MR

199 , during which many congenital heart disease malformations likely arise, we conducted an RNA-seq time

200 %), and 2 (2.8%) each associated with Chiari malformation, medication use, tumor of the central nervo

201 KT3 mutations, to diffuse bilateral cortical malformations, megalencephaly and heterotopia due to con

202 After exclusion of 52,512 individuals with malformations (n = 196 cases), 305 cases of HF remained

203 ar interest in view of the severe congenital malformations - 'neural tube defects' - that result when

204 normal retinal anatomy, as well as vascular malformations, nonperfusion, and neovascularization.

205 se characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydact

206 lar aplasia similar to Dandy-Walker spectrum malformations observed in human patients and mouse embry

207 The small increase in the risk for malformations observed with risperidone requires additio

208 nion channel EAAT1, and discovered it caused malformation of astrocytes and episodes of paralysis in

209 ch was not associated with any developmental malformation of brain.

210 Lissencephaly is a malformation of cortical development typically caused by

211 can cause classical lissencephaly, a severe malformation of cortical development.

212 P5TX also led to malformation of GABApre neuron axo-axonic contacts on Ia

213 facial disorder that is characterized by the malformation of the facial bones.

214 t cleft palate is the most common congenital malformation of the head and the third-most common birth

215 c circler (Ecl) mice, which have a bilateral malformation of the horizontal (lateral) semicircular ca

216 microscopy revealed that APYS1 caused gross malformation of the old pole of M. tuberculosis, with ev

217 fer from dispersion of pyramidal neurons and malformation of the radial glial scaffold, akin to the h

218 kdown of son in zebrafish resulted in severe malformation of the spine, brain, and eyes.

219 ion for studying motor control, we show that malformation of these spinal circuits leads to hyperexci

220 Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompani

221 Malformations of cortical development (MCDs) compose a d

222 Focal cortical dysplasias (FCDs) are malformations of cortical development (MCDs) that are hi

223 tumors (mainly ganglioglioma) in 23.6%, and malformations of cortical development in 19.8% (focal co

224 me or early myoclonic encephalopathy without malformations of cortical development.

225 Cellular changes underlying malformations of human cortical development may be diffi

226 efects (NTDs) are the most severe congenital malformations of the central nervous system.

227 Malformations of the cerebral cortex (MCCs) are devastat

228 e syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision p

229 has been associated with testis maldescent, malformations of the genitalia at birth, and poor semen

230 ere considerably increased for children with malformations of the nervous system (adjusted HR, 46.4;

231 Malformations of the optic nerve lead to reduced vision

232 he submitral apparatus, with a wide array of malformations of the papillary muscles and chordae, that

233 ysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder

234 that lead to an overflow of cells can cause malformations of the voice box.

235 als with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficu

236 l for gestational age, but not of congenital malformation or stillbirth.

237 ized complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood t

238 as been shown to contribute to heart and jaw malformation phenotypes.

239 normalities (e.g., heterotopia, Dandy-Walker malformation), pituitary insufficiency, and/or synpolyda

240 able phenotypes including bilateral cortical malformations, polymicrogyria, periventricular nodular h

241 Vascular malformations pose a diagnostic and therapeutic challeng

242 .e., autism spectrum disorder and congenital malformations), potentially indicating some clinical and

243 s were considered: maternal and fetal death; malformations; preterm delivery; small for gestational a

244 KUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such a

245 ant differences were found in the congenital malformation rate, prematurity rate, and Apgar scores.

246 Spontaneous miscarriage and fetal malformation rates after recovery of sperm output overla

247 Renal arteriovenous malformation (RAVM) is a rare disease.

248 The recently published arteriovenous malformation-related intracerebral haemorrhage (AVICH) s

249 genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized.

250 ause intellectual disability and pleiotropic malformations resembling those in Pbx1 mutant mice, argu

251 , our work establishes a paradigm whereby CV malformations result from primary or secondary loss of p

252 Ocular coloboma is a common eye malformation resulting from incomplete fusion of the opt

253 and the proportion of cardiovascular system malformation rose by 0.92% from 2009 to 2013.

254 ns (RR, 1.26; 95% CI, 1.02-1.56) and cardiac malformations (RR, 1.26; 95% CI, 0.88-1.81) was found fo

255 examined, a small increased risk in overall malformations (RR, 1.26; 95% CI, 1.02-1.56) and cardiac

256 asts and periosteal dura causes skull and CV malformations, similar to humans harboring TWIST1 mutati

257 nsive care unit (NICU) admission, congenital malformation, small for gestational age (SGA), birth inj

258 Subsets of affected individuals have malformations such as coloboma, polydactyly, and encepha

259 vement ranging from focal or segmental brain malformations (such as hemimegalencephaly and polymicrog

260 the largest systematic sampling of amphibian malformations, suggest that increased observations of ab

261 ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability.

262 tosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive an

263 s may cause more subtle forms of human brain malformation than classic lissencephalies.

264 dromic cleft palate only (nsCPO) is a facial malformation that has a livebirth prevalence of 1 in 2,5

265 we focus on two of the most studied vascular malformations that are induced by deregulation of TGF-be

266 endocardium result in congenital structural malformations that can lead to disease in the neonate an

267 ) are common inherited and sporadic vascular malformations that cause strokes and seizures in younger

268 Vascular malformations that occur inside bone tissue are rare.

269 hough null Zfp423 mutants develop cerebellar malformations, the underlying mechanism remains unknown.

270 s causal relationship with severe congenital malformations, the ZIKV epidemic became an imperative fo

271 cardiac differentiation but induces cardiac malformations thought to arise from a defect of CP migra

272 the extent and anatomic relationship of the malformation to adjacent structures.

273 allosum (AgCC), one of the most common brain malformations to identify differences in the effect of v

274 llowed patients with previously lethal heart malformations to survive and, in most cases, to thrive.

275 een reported in a few individuals with brain malformations, to date.

276 4]; p=0.3645) or in risk of major congenital malformations (two [2%] of 109 [95% CI 0.22-6.47] versus

277 Only three newborn babies had malformations, two in the vaccine exposure group and one

278 osis of capillary malformation/arteriovenous malformation type 1.

279 und diagnosis of congenital pulmonary airway malformation type II was made.

280 None, however, displayed the basal ganglia malformations typically associated with TUBB2B mutations

281 Although vein of Galen aneurysmal malformations (VGAM) can be diagnosed in the fetus, the

282 or autosomal-recessive intraosseous vascular malformation (VMOS) in five different families.

283 Adjusted risk for congenital malformation was 4.98% in exposed offspring versus 4.96%

284 temisinin, or artemether) and miscarriage or malformation was assessed using Cox regression with left

285 The malformation was embolized using NBCA mixed with lipiodo

286 Results: Congenital malformation was observed in 2037 (4.97%) exposed offspr

287 The absolute risk of major malformations was 1.4% for exposed infants and 1.1% for

288 econd-generation antipsychotics, three major malformations were confirmed.

289 Cardiac malformations were present in 16 of the 663 infants expo

290 Although malformations were rare overall (average = 1.6%), we ide

291 The findings for cardiac malformations were similar.

292 h pesticide application positively predicted malformations: wetlands with a greater abundance of the

293 In contrast to common unifocal venous malformation, which is most often caused by the somatic

294 lated neonatal complications, and congenital malformations, which in turn are associated with increas

295 Debates over the causes of such malformations-which can affect >50% of animals in a popu

296 and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance.

297 t palate (CP) are common human developmental malformations with a complex etiology that reflects a fa

298 1 vaccination during pregnancy and offspring malformation, with familial factors taken into account.

299 1 from birth led to similar hepatic vascular malformations within 2 weeks.

300 defects are among the most common congenital malformations, yet their embryonic origin and underlying