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1 e critically involved in the pathogenesis of neurodevelopmental abnormalities and cognitive deficits
3 ariants specifically recapitulates patients' neurodevelopmental abnormalities, including microcephaly
5 ller thalamic association nuclei represent a neurodevelopmental abnormality associated with psychosis
7 volvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subje
8 privation is associated with higher rates of neurodevelopmental and mental disorders in adulthood.
10 its promising therapeutic potential for many neurodevelopmental and neurodegenerative disorders as a
12 tes of SSBR, not DSBR, as the source of both neurodevelopmental and neurodegenerative pathology in PN
14 uronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and
15 dation pathways have been recently linked to neurodevelopmental and neuropsychiatric diseases, sugges
17 y synthesized polypeptides could explain the neurodevelopmental and neuropsychiatric disorders observ
18 se behaviors are disrupted in multiple human neurodevelopmental and neuropsychiatric disorders, such
19 he same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there
20 viduals who completed information on gender, neurodevelopmental and psychiatric diagnoses including a
21 e been reported in individuals with variable neurodevelopmental anomalies and non-specific facial fea
24 uloskeletal disorders (11% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic diso
27 early joint prediction of multiple abnormal neurodevelopmental (cognitive, language and motor) outco
28 subset of individuals from the Philadelphia Neurodevelopmental Cohort (PNC) completed two DWI scans
29 ts (293 with psychosis) and the Philadelphia Neurodevelopmental Cohort (PNC), consisting of 1,393 you
30 structural abnormalities in psychosis and a neurodevelopmental cohort, and to determine whether nucl
31 articipants were drawn from the Philadelphia Neurodevelopmental Cohort, including 712 youth with a li
33 Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated with intellectua
35 c cause of autism spectrum disorder (ASD), a neurodevelopmental condition that currently has no speci
39 spectrum disorders (ASD) refer to a range of neurodevelopmental conditions, which are genetically com
43 Exome sequencing of siblings with severe neurodevelopmental defects and clinical features of epil
44 ral stem/progenitor cell (NSPC) activity and neurodevelopmental defects are linked to intellectual di
45 findings provide a mechanistic insight into neurodevelopmental defects caused by maternal n-3 PUFAs
48 lated polyamine metabolism contribute to the neurodevelopmental defects of Tsc2-RG mice, we used phar
51 e two-hit (immune plus neonatal HI) model of neurodevelopmental defects.SIGNIFICANCE STATEMENT In aut
53 oursodeoxycholic acid improved metabolic and neurodevelopmental deficits and reversed leptin resistan
55 s been causally linked to a constellation of neurodevelopmental deformities in the fetus resulting in
57 g evidence that de novo CNOT1 variants cause neurodevelopmental delay with a wide range of additional
58 ts in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequen
66 in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feedi
69 human brain tissue in neurodegenerative and neurodevelopmental disease there are few similar data fo
71 l-regulated protein kinase 2, ERK2), cause a neurodevelopmental disease within the RASopathy phenotyp
72 utations in NARS1 are a significant cause of neurodevelopmental disease, where the mechanism for de n
73 e, we have coupled multiplexed repression of neurodevelopmental disease-associated genes to single-ce
77 ctrum disorders (ASD) are a group of related neurodevelopmental diseases displaying significant genet
78 hogenic variants in TRIO are associated with neurodevelopmental diseases, including intellectual disa
80 set of the data from the Province of Ontario Neurodevelopmental Disorder (POND) Network was used incl
82 e 22q11.2 deletion syndrome (22q11.2DS) is a neurodevelopmental disorder associated with a number of
83 riants in SCAF4 are causative for a variable neurodevelopmental disorder associated with impaired mRN
84 romatosis type 1 (NF1) is a common monogenic neurodevelopmental disorder associated with physical and
87 it/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by age-inappro
89 Loss-of-function SYNGAP1 mutations cause a neurodevelopmental disorder characterized by intellectua
90 ift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectua
91 Affected individuals demonstrated a variable neurodevelopmental disorder characterized by mild intell
92 reminiscent of human ocular motor apraxia, a neurodevelopmental disorder characterized by reduced sac
94 s complex (TSC) is a rare autosomal dominant neurodevelopmental disorder characterized by variable ex
95 ss-of-function variants in this gene cause a neurodevelopmental disorder defined by cognitive impairm
97 Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pathogenic mutations
98 is in the initial indication of amblyopia, a neurodevelopmental disorder for which available treatmen
104 ions in the MECP2 gene cause the progressive neurodevelopmental disorder Rett syndrome(3-5), which is
106 spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder that encompasses a complex a
107 n-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder that is consistently associa
108 nia is still unknown, it is accepted to be a neurodevelopmental disorder that results from the intera
110 , as its loss leads to fragile X syndrome, a neurodevelopmental disorder which is the most prevalent
111 vity disorder (ADHD) is a severely impairing neurodevelopmental disorder with a prevalence of 5% in c
112 nd female Dravet syndrome (Scn1a+/-) mice, a neurodevelopmental disorder with prominent temperature-s
121 show that ankyrin-G interacts with Usp9X, a neurodevelopmental-disorder-associated deubiquitinase (D
122 In the full dataset, genes associated with neurodevelopmental disorders (n = 159) were significantl
124 ctivity disorder (ADHD), the entire range of neurodevelopmental disorders (NDDs) has not yet been wel
126 arge number of genes have been implicated in neurodevelopmental disorders (NDDs), but their contribut
131 ive Pol III mutations have been described in neurodevelopmental disorders and hypersensitivity to vir
132 TOR pathway genes are linked to a variety of neurodevelopmental disorders and malformations of cortic
133 sm spectrum disorder (ASD) is a continuum of neurodevelopmental disorders and needs new therapeutic a
134 inked to synapse pathologies associated with neurodevelopmental disorders and neurodegenerative disea
135 omosomal locus are associated with syndromic neurodevelopmental disorders and reciprocal physiologica
138 However, it is unclear how genetic risks for neurodevelopmental disorders are translated into spatial
140 ses understanding of the complex etiology of neurodevelopmental disorders arising from rare missense
141 nces of 101 known de novo variant-associated neurodevelopmental disorders as well as 3106 putative mo
142 ne duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malfo
143 the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heter
144 ortical neuroimaging data from patients with neurodevelopmental disorders caused by genomic copy numb
145 tual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmen
149 pport a neuroimmune mechanism that underlies neurodevelopmental disorders in which the production of
150 STXBP1 are among the most frequent causes of neurodevelopmental disorders including intellectual disa
151 tion factor eEF1A2, have been shown to cause neurodevelopmental disorders including often severe epil
153 ylating enzyme that has been associated with neurodevelopmental disorders primarily in female subject
155 nsight into the possible etiology underlying neurodevelopmental disorders resulting from histamine dy
156 uitry, and its disruption has been linked to neurodevelopmental disorders such as autism and schizoph
157 ynapses, and its disruption is implicated in neurodevelopmental disorders such as Phelan-McDermid syn
158 as been linked to complex disease, including neurodevelopmental disorders such as schizophrenia and a
159 the Kanizsa illusory contours is impaired in neurodevelopmental disorders such as schizophrenia, auti
160 sessive-compulsive disorder (OCD) are common neurodevelopmental disorders that frequently co-occur.
161 ormations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal d
162 l dysphagia-is often associated with several neurodevelopmental disorders that subsequently alter com
163 variant burden of NCKAP1 in individuals with neurodevelopmental disorders which needs further replica
164 or oligodendrocyte and myelin dysfunction in neurodevelopmental disorders with cognitive symptoms.
165 pectrum disorder (ASD) is a constellation of neurodevelopmental disorders with high phenotypic and ge
166 tism spectrum disorders (ASD) are a group of neurodevelopmental disorders with symptoms including soc
168 hedding light on the genetic architecture of neurodevelopmental disorders, and new approaches are rev
169 bellum is a key brain region in a variety of neurodevelopmental disorders, and the adult cerebellum h
170 only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributin
171 genetic locus are associated with a range of neurodevelopmental disorders, including autism spectrum
172 twork connectivity, which has been linked to neurodevelopmental disorders, including autism spectrum
173 ild speech and language delay to intractable neurodevelopmental disorders, including but not limited
174 ss are implicated in the etiology of complex neurodevelopmental disorders, including schizophrenia, a
175 mented and cost-effective screening tool for neurodevelopmental disorders, particularly in cases when
176 ts in OCD are enriched for those reported in neurodevelopmental disorders, particularly Tourette's di
177 ng health issues, such as epilepsy and other neurodevelopmental disorders, sleep problems, and mental
178 (DNMs) are significant risk factors in many neurodevelopmental disorders, whereas schizophrenia (SCZ
179 ities to model and test therapies for severe neurodevelopmental disorders, while revealing significan
180 genes encoding synaptic proteins cause many neurodevelopmental disorders, with the majority affectin
204 Autism Spectrum Disorder (ASD) is a common neurodevelopmental disturbance afflicting a variety of f
205 tistically significant relationship with the neurodevelopmental domain and clinical domain, respectiv
206 rum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with earl
208 advancing our understanding of the variable neurodevelopmental effects induced by MIA and for biomar
209 not sufficiently sensitive to detect adverse neurodevelopmental effects of maternal and perinatal hyp
210 f cellular stress are generated during these neurodevelopmental events, all of which can potentially
212 cally significantly associated with elevated neurodevelopmental, externalizing, and depressive sympto
213 opathology factor, and several dimensions of neurodevelopmental, externalizing, and internalizing sym
215 records, familial whole-exome sequences and neurodevelopmental gene expression patterns, we identifi
216 ate that MiDAC functions as a modulator of a neurodevelopmental gene expression program and binds to
218 this atlas serves as a resource for decoding neurodevelopmental gene regulation in health and disease
221 of death (16.2% and 15.0%, respectively) and neurodevelopmental impairment (39.6% and 40.3%, respecti
222 primary outcome was a composite of death or neurodevelopmental impairment (cognitive delay, cerebral
224 bo group in the incidence of death or severe neurodevelopmental impairment at 2 years of age (97 chil
225 transfusion did not improve survival without neurodevelopmental impairment at 22 to 26 months of age,
226 The primary outcome was death or severe neurodevelopmental impairment at 22 to 26 months of post
227 age did not result in a lower risk of severe neurodevelopmental impairment or death at 2 years of age
229 old group, 423 (50.1%) died or survived with neurodevelopmental impairment, as compared with 422 of 8
232 oid and other cancers and/or autoimmunity or neurodevelopmental issues including autism spectrum diso
234 Our work contributes to understanding the neurodevelopmental mechanisms that may be disturbed in t
235 ure research aiming to better understand the neurodevelopmental mechanisms underlying risk for psycho
238 in human induced pluripotent stem cell-based neurodevelopmental models to probe genetic risk in a cel
239 y affected SCZ-associated and ASD-associated neurodevelopmental modules, including loading highly ont
240 xplored this possibility in DYT1 dystonia, a neurodevelopmental movement disorder caused by a loss-of
242 le conditions may disadvantage children with neurodevelopmental multimorbidity, who we observed had s
243 0 clinical trials currently underway, across neurodevelopmental, neurodegenerative, muscular dystroph
244 five different categorical domains, namely, neurodevelopmental, neurometabolic and neurodegenerative
246 measured soon after birth, predicts adverse neurodevelopmental outcome eighteen months after neonata
247 utic hypothermia (TH) improves the long-term neurodevelopmental outcome of neonates with moderate to
251 sources and role of cord UMFA in children's neurodevelopmental outcomes and underlying mechanisms.
255 her aimed to link these in vitro findings to neurodevelopmental outcomes in children who were exposed
257 look into etiology of described differences, neurodevelopmental outcomes, and role of the CC as an ea
263 l regulator of interneuron fate relevant for neurodevelopmental pathologies.This article has an assoc
268 Taken together, we report behavioral and neurodevelopmental phenotypes associated with Oga allele
271 o transcellular interactions that coordinate neurodevelopmental processes across developing neural ne
272 oach offers a powerful framework to identify neurodevelopmental processes affected by diverse risk va
273 stems within which they operate, 2) identify neurodevelopmental processes associated with polygenic r
275 bitors and can cause disruptions of critical neurodevelopmental processes, including neuronal electri
277 ggest that events leading to deregulation of neurodevelopmental processes, such as inactivation of SH
281 ystem during pregnancy and increased risk of neurodevelopmental psychiatric conditions, such as schiz
283 has been associated with diseases including neurodevelopmental, psychiatric, and neurodegenerative d
284 with autism spectrum disorder (ASD) [45 with neurodevelopmental regression (NDR); 76% Male; mean (SD)
285 CMV) infection remains an important cause of neurodevelopmental sequelae in infants infected in utero
286 ncur that SOX6 haploinsufficiency leads to a neurodevelopmental SOXopathy that often includes ADHD an
288 l transcriptomic network, reminiscent of the neurodevelopmental state, and potentiation of rod - rod
289 ogically similar to adult PTSD, shows unique neurodevelopmental substrates that may impair recovery b
291 icate that EIF2AK2 missense variants cause a neurodevelopmental syndrome that may share phenotypic an
292 family and the Notch signaling pathway in a neurodevelopmental syndrome with epilepsy, ptosis, and h
293 nge for many other TFs, including closure of neurodevelopmental TF binding sites and increased expres
295 These findings further our understanding of neurodevelopmental trajectories in TS and carry implicat
297 of 14 and 19 suggests a potential 'aberrant' neurodevelopmental trajectory for critical limbic areas.