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1 ory of brain trauma or intracranial vascular malformations).
2 erebellar vermis hypoplasia and Dandy-Walker malformation.
3 ally derived macrophages caused severe valve malformation.
4 ified as cause of polymicrogyria, a cortical malformation.
5 ts (5%) had documented venous rectosigmoidal malformation.
6 ting a causal role in the pathology of brain malformation.
7 ations cause human microcephaly and cortical malformation.
8 y characterized by a pathognomonic hindbrain malformation.
9 ients with an unruptured brain arteriovenous malformation.
10 ee-dimensional scanner applied to chest wall malformations.
11 lar bone hypoplasia, and a range of skeletal malformations.
12 variants that cause NAD deficiency-dependent malformations.
13 s, sometimes with pancreatic and diaphragmic malformations.
14 sage during RNA splicing, causing the enamel malformations.
15 are sufficient to induce brain arteriovenous malformations.
16 y or dysfunction is associated with vascular malformations.
17 hanges in microtubule subunits lead to brain malformations.
18 ciated with holoprosencephaly or other brain malformations.
19 quent cause of secondary upper urinary tract malformations.
20 f developmental central nervous system (CNS) malformations.
21 permissive state for the appearance of these malformations.
22 inal degeneration and central nervous system malformations.
23 familial/inherited focal epilepsy and brain malformations.
24 al dysmorphism, and various other congenital malformations.
25 aemorrhage in adults with cerebral cavernous malformations.
26 , trace element deficiencies, and congenital malformations.
27 icular heterotopia, polymicrogyria and other malformations.
28 consistent with other Sturge-Weber vascular malformations.
29 ance that results in clinically relevant OFT malformations.
30 re genetic disease presenting hepatic vessel malformations.
31 pregnant women can lead to fetal deaths and malformations.
32 function, are characterized by axonal tract malformations.
33 ar development as a mechanism for cerebellar malformations.
34 nd the treatment of diseases and physiologic malformations.
35 re to modafinil and risk of major congenital malformations.
36 rdiovascular diseases, such as arteriovenous malformations.
37 atal period, without additional recognizable malformations.
38 genetic disorder characterized by vertebral malformations.
39 are also associated with hereditary cranial malformations.
40 as some evidence of a higher risk of cardiac malformations.
41 or the endothelium in the etiology of aortic malformations.
42 ewborns without an increased risk of cardiac malformations.
43 ), meningiomas (1490 [30.4%]), arteriovenous malformations (1089 [22.2%]), trigeminal neuralgia (565
44 th (46.0%, RR = 11.32; 95% CI, 8.1-15.7) and malformations (11.3%, RR = 1.98; 95% CI, 1.2-3.4) was in
46 of intrapartum events" (15.0%), "congenital malformations" (13.1%), and "infection related" (9.8%).
47 ions (33.9%) in infants, tumours (40.5%) and malformations (16.3%) in children, and tumours (24.6%),
48 f 127 cases, leading causes being congenital malformations (18.9%), complications of prematurity (14.
49 it to delay ageing(3), prevent developmental malformations(3,4) and replace old tissues during regene
50 nter kinase-1) and CCM-3 (cerebral cavernous malformations-3), participate in a negative feedback loo
51 tal intraventricular haemorrhage (35.3%) and malformations (33.9%) in infants, tumours (40.5%) and ma
52 the most common cause of cerebral cavernous malformation, a neurovascular dysplasia resulting in dil
53 igate the molecular basis of rare congenital malformations, a significant fraction of patients remain
54 ng splenic abnormalities and complex cardiac malformations-a distinctive subgroup commonly referred t
56 nts one of the most common congenital ocular malformations accounting for up to 10% of childhood blin
57 showed embryo growth inhibition and skeleton malformation activities with EC(50) values, in relative
58 clefting includes several distinct anatomic malformations affecting the upper lip and hard and soft
59 during early pregnancy and major congenital malformations among infants born in Norway and Sweden be
60 ption of notochord vacuoles causes vertebral malformation and curving of the spine axis at those site
61 classic signs of PAH toxicity such as heart malformation and deformities in the jaw, fin, and tail.
63 h shed light on the rare entity of Abernethy malformation and gives a working algorithm for extrahepa
66 ding on the type, extent and severity of the malformation and the involved genetic pathways of brain
67 We examined the risk of major congenital malformations and cardiac defects associated with gabape
70 and the Caribbean associated with congenital malformations and Guillain-Barre syndrome in adults have
71 children and young adults with arteriovenous malformations and in those exposed to ferumoxytol over t
72 , whereas syndromic BA (BASM) has associated malformations and is thought to arise from a congenital
75 intravenous ondansetron and risk of cardiac malformations and oral cleft in children of exposed moth
76 on of Cdc42 elicits CCM-like cerebrovascular malformations and that CDC42 is engaged in the CCM signa
77 ur understanding of the causes of congenital malformations and the importance of sufficient NAD precu
78 ts neuroimaging to identify antecedent brain malformations and timing of injury, which can influence
79 es for LEAT, 74.0% (328 of 443) for vascular malformation, and 71.5% (2108 of 2948) for hippocampal s
80 periodontal attachment apparatus, tooth root malformation, and failure of tooth eruption in molars, w
82 ated neuroepithelial tumour (LEAT), vascular malformation, and hippocampal sclerosis had the best sei
83 ngenital Zika syndrome (CZS) is a cluster of malformation, and the mechanisms that lead it are still
84 conclusion, risk of neonatal complications, malformations, and both early and late infection were in
88 Congenital heart defects are the most common malformations, and result from disruption of discrete su
89 -dimensional (3D) heart structure, to assess malformations; and its ultrastructure, to assess organel
90 g is the most common congenital craniofacial malformation, appearing in approximately 1 in 700 live b
92 lthough CHF together with liver ductal plate malformations are common features of several human cilio
96 ic arteriovenous malformations and cavernous malformations are surgically excised if accessible, whil
99 ized trial of Unruptured Brain Arteriovenous malformations (ARUBA), randomisation was halted at a mea
100 the venous drainage areas, and arteriovenous malformations as determined by increased cell coverage a
102 ultimerization and prevent the developmental malformations associated with congenital Zika syndrome.
104 n angiogenesis, and ultimately arteriovenous malformations (AVM), through transforming growth factor
105 neurysms (n = 3/24), pulmonary arteriovenous malformations (AVMs) (n = 5/24), and proximal interrupti
108 g disorder leading to systemic arteriovenous malformations (AVMs), is caused by loss-of-function muta
109 ocal telangiectases and larger arteriovenous malformations (AVMs); but how ENG functions to regulate
111 d from some patients with cerebral cavernous malformations, because of uncertainty around the safety
112 mutations can lead to heterogeneous cerebral malformations, both related to proliferation and migrati
113 outinely used for screening of morphological malformations, but functional measurements of blood flow
114 an essential role in the diagnosis of these malformations, but several issues regarding malformation
116 rmation syndromes including urorectal septum malformation, caudal regression, vertebral-anal-cardiac-
117 ects (NTDs) are a group of severe congenital malformations caused by a failure of neural tube closure
118 ng place during embryonic development, brain malformations caused by ectopic proliferation of misplac
119 rogressive overgrowth disorder with vascular malformations caused by mosaic expression of the AKT1 c.
120 This study demonstrates that congenital malformations caused by NAD deficiency can occur indepen
121 l dysplasia (FCD) are epileptogenic cortical malformations caused by pathogenic variants in mechanist
122 ariant, highly associated with extra-cardiac malformations, caused ectopic pioneer activities, profou
125 cular anomalies including cerebral cavernous malformations (CCM), which are caused by a clonal loss o
126 emorrhage associated with cerebral cavernous malformations (CCMs) to anticoagulant properties of lesi
128 ellectual impairment, sharing a unique brain malformation characterized by agenesis of putamina and g
129 rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss o
130 d severe foliation defects and inferior lobe malformation, characterized by immature Purkinje cells (
131 ests with early symptoms, including cortical malformations, childhood epilepsy, and TSC-associated ne
134 human disease, including neurodevelopmental malformations (congenital Zika syndrome) and Guillain-Ba
135 re developmental delay, visceral and cardiac malformations, connective tissue presentations with arte
140 range human enhancers involved in congenital malformations, directly demonstrate that PRS is an enhan
142 ng that KRIT1 mutation in cerebral cavernous malformation disease may alter epithelial function and a
144 ogical deficit due to the cerebral cavernous malformations during up to 15 years of prospective follo
145 large-exome sequencing study of Dandy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH).
146 A retrospective review of 597 intracerebral malformation embolisations yielded 40 embolisations of C
147 helium is sufficient for brain arteriovenous malformations, even in the setting of uninjured adult va
148 d pregnancies, significance remained for any malformation (exposure during any pregnancy period or th
149 sure during the first trimester) and cardiac malformations (exposure during any pregnancy period).
150 y period or the first trimester) and cardiac malformations (exposure during the first trimester), but
153 With time, a wide variety of other brain malformations has been ascribed to RTTN mutations, inclu
155 gle-gene disorders resulting in craniofacial malformations have identified a number of critical signa
156 al delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we
157 PA, including meningiomas, lipomas, vascular malformations, hemangiomas, epidermoid cysts, cerebellar
159 ficantly reduced the penetrance of maxillary malformation in both Six1 (-/-) and Six1 (-/-) Six2 (+/-
162 supplementation in prevention of congenital malformations in children born to women with epilepsy.
164 have implications for understanding cortical malformations in ciliopathies with INPP5E mutations.
169 oal was to systematically characterize brain malformations in patients with PTEN variants and assess
170 TEN) variants, but the frequency of cortical malformations in patients with PTEN variants and their i
173 woman with Zika virus can cause severe brain malformations in the child such as microcephaly and othe
175 emonstrate that KRAS-dependent arteriovenous malformations in zebrafish are refractory to inhibition
177 viduals revealed varying degrees of cortical malformations including pachygyria and subcortical band
178 efects in OFT development can lead to severe malformations, including aortic aneurysms, which are fre
179 ies with a variety of overlapping congenital malformations, including cardiac, vertebral, tracheo-eso
180 evelopmental disorders associated with brain malformations, including corpus callosum agenesis (ACC)
182 gnificant associations were detected between malformation indexes with right ventricular systolic and
183 atic portosystemic shunt (CEPS) or Abernethy malformation is a rare condition in which splanchnic ven
184 ncy as a cause of embryo loss and congenital malformation is not restricted to the rare cases of bial
187 genes are associated with severe human brain malformations known as 'tubulinopathies'; however, it is
189 patients with congenital lower urinary tract malformations (LUTM) even when managed during infancy.
193 f CDC42 does not alter EC proliferation, but malformations occur where EC proliferation is the most p
194 etween metronidazole exposure and congenital malformations (odds ratio, 0.96 [95% CI, 0.75 to 1.22];
195 with focal cortical dysplasia type I or mild malformation of cortical development (50.0%, 213 of 426
197 26 free from disabling seizures), those with malformation of cortical development-other (52.3%, 212 o
199 efects, including holoprosencephaly (HPE), a malformation of the forebrain and face thought to result
201 band heterotopia; each represents anatomical malformations of brain cortical development caused by ne
202 and focal cortical dysplasia (FCD) are focal malformations of cortical development (FMCDs) that are h
205 malformations, but several issues regarding malformations of cortical development definitions and cl
206 in their practice, with the aim of improving malformations of cortical development diagnosis and imag
207 neurologists who may encounter patients with malformations of cortical development in their practice,
209 nsensus statement is to provide standardized malformations of cortical development terminology and cl
213 ti-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitour
214 s (1.214 [1.156, 1.275; p < 0.001]) and from malformations of the circulatory system (1.172 [1.011, 1
215 OSB) is one of the most prevalent congenital malformations of the CNS that often leads to severe disa
219 an increase in infant deaths from congenital malformations of the nervous (NO2, 1.525 [1.179, 1.974;
220 and NO2 was also associated with deaths from malformations of the respiratory system (1.306 [1.019, 1
221 isolated absence of both kidneys to multiple malformations of the vertebrae, heart, limbs, and kidney
222 eded by stenosis of the Sylvian aqueduct and malformation or absence of the subcommissural organ and
223 , suggesting that CPAMD8 variation may cause malformation or obstruction of key drainage structures.
226 exposure can cause overt forebrain and face malformations or neurodevelopmental disruptions with sub
228 xycycline was associated with cardiovascular malformations (OR 2.4, 95% CI 1.2-4.7) in 1 study and sp
230 in exposure during early pregnancy and major malformations overall, although there was some evidence
231 the molecular mechanisms for cardiovascular malformations, pancreas and diaphragm dysgenesis that ar
232 ts were significantly associated with embryo malformations, partial least squares regression (PLSR) m
233 lored safety in relation to major congenital malformations, particularly in the first trimester when
238 g is associated with pulmonary arteriovenous malformation persistence after embolization in patients
239 anisms connecting genetic mutations to brain malformation phenotypes are still poorly understood.
240 s from NGS indicated extensive TAR stem-loop malformations predicted to inactivate proviral transcrip
241 ve-births resulted in an infant with a major malformation recorded in the year after delivery and the
243 e relationship between vaccination and major malformations recorded in the year after delivery and in
244 the yolk caused mild to severe developmental malformations, reduced growth, and specifically impaired
245 ulation and as anomalies in human congenital malformations, reinforcing the idea that such variations
247 age growth, but instead lead to catastrophic malformations resembling chondrodysplasia or achondrogen
248 derived from tracheal mesoderm, and tracheal malformations result in serious respiratory defects in n
252 agenesis of the corpus callosum, ano-rectal malformations, seizures, and hearing or visual impairmen
254 h worsened during stress and were related to malformation severity.(C) RSNA, 2020: An earlier incorre
256 mon and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's
257 layed reduced sprouting, leading to vascular malformations similar to those seen in humans with Fowle
258 ations cause mental retardation and cerebral malformation, similar regulatory mechanisms may be appli
259 s was a comparison of 5 outcomes (congenital malformations, spontaneous abortions, preterm birth, low
260 sure did not increase the rate of congenital malformations, spontaneous abortions, preterm birth, low
261 tical dysgenesis leading to congenital brain malformations such as polymicrogyria consistent with a p
262 iduals presenting with a multiple congenital malformation syndrome in whom we identified heterozygous
263 P1R12A pathogenic variants with a congenital malformations syndrome affecting the embryogenesis of th
264 testinal development similar to human caudal malformation syndromes including urorectal septum malfor
265 cts result in a group of related pleiotropic malformation syndromes known as ciliopathies, often char
266 ded infants with life-threatening congenital malformations, syndromic disorders, neurometabolic disea
267 C5 mutations are often associated with brain malformations, tend to be drug-resistant, and have been
268 neurological deficit from cerebral cavernous malformations than avoidance of antithrombotic therapy.
269 nt mice are born with complex cardiovascular malformations that affect the outflow tract and aortic a
271 which alone does not cause NAD deficiency or malformations, the incidence of embryo loss and malforma
272 of this signaling pathway in human forebrain malformations, the role of primary cilia in forebrain mo
273 g those recently discovered in Vein of Galen malformation: the most common and severe brain arteriove
274 ex exhibiting lissencephaly, a developmental malformation thought to be mainly due to abnormal neuron
276 of sonic hedgehog signaling and craniofacial malformations to illustrate both the importance of and c
277 ailure, muscular and motor control and brain-malformation) to comprehensively score patient symptoms
278 d Gamma Knife radiosurgery for arteriovenous malformation, trigeminal neuralgia, or benign intracrani
279 ing model for classification of aortic valve malformations using up to 4,000 unlabeled cardiac MRI se
281 igmoidal involvement in patients with venous malformations (VM) of the lower extremities and to demon
282 Mendelian disease characterized by vascular malformations (VMs) including visceral arteriovenous mal
286 Moreover, the presence of urinary tract malformation was associated with the need for longer tra
288 formations, the incidence of embryo loss and malformations was significantly higher, suggesting a gen
289 Of the twelve individuals, midline brain malformations were found in five, urogenital anomalies i
291 ostpartum hemorrhage, stillbirth, and infant malformations) were identified during pregnancy and at d
292 influenza vaccine was associated with major malformations when given in the first trimester or subse
293 d-type mice had offspring exhibiting similar malformations when their supply of the NAD precursors tr
294 channels in individuals with cerebral cortex malformations, which reflect abnormalities in early-to-m
296 ed for age and sex, with brain arteriovenous malformations who received at least one dose of ferumoxy
297 nosed with an unruptured brain arteriovenous malformation, who had never undergone interventional the
298 enesis using a mouse model of focal cortical malformation with spontaneous epileptiform discharges.
299 ucts predicted the elevated frequency of the malformations with a high classification accuracy (84%).