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1 d cellular levels scale with the severity of brain malformation.
2 supporting a causal role in the pathology of brain malformation.
3 s reveals myelination defects in addition to brain malformation.
4  (mTORC1) was detected in this developmental brain malformation.
5 espiratory distress syndromes and congenital brain malformations.
6 uscular dystrophies with associated, similar brain malformations.
7 hies, stereotypic craniofacial anomalies and brain malformations.
8 at can be present with or without associated brain malformations.
9 gical mutant mice, such as reeler, and human brain malformations.
10 iated with radiographically evident cortical brain malformations.
11 A-V409A, reflecting the severity observed in brain malformations.
12 ith behavioral problems, motor deficits, and brain malformations.
13 evel changes in microtubule subunits lead to brain malformations.
14 ll division can cause microcephaly and other brain malformations.
15 s and are frequently characterised by severe brain malformations.
16 own about changes in these properties during brain malformations.
17 s of genetic disorders that cause structural brain malformations.
18 ual disability, microcephaly, and congenital brain malformations.
19 erized by the presence of seizures and gross brain malformations.
20 y associated with holoprosencephaly or other brain malformations.
21  KIF26A, exhibiting a spectrum of congenital brain malformations.
22 ted in familial/inherited focal epilepsy and brain malformations.
23 t could underlie human microcephaly or other brain malformations.
24 e microcephaly and a wide spectrum of severe brain malformations.
25 reported incidence of fetal microcephaly and brain malformations.
26 PR56 mutations cause myelination defects and brain malformations.
27 psy identified to date, including cases with brain malformations.
28 y in muscular dystrophies without associated brain malformations.
29  patients had focal epilepsy associated with brain malformations.
30 o the alarming number of cases of congenital brain malformations.
31 enetic networks underlying specific types of brain malformations.
32 h neurogenetic disorders that often included brain malformations.
33 tin, its distribution in PDE, and associated brain malformations.
34 detecting somatic mutations in patients with brain malformations.
35 by severe muscular dystrophy associated with brain malformations.
36 ients with retinal pathologies or congenital brain malformations.
37  developmental junctures can lead to complex brain malformations.
38 arter of all cases of lissencephaly-spectrum brain malformations(2)(,)(3) that arise from a neuronal
39 , metabolic diseases (11 of 14 [78.6%]), and brain malformations (20 of 61 [32.8%]).
40 tations probably account for the less severe brain malformations, although other patients with missen
41       We report that IP6K1 deletion leads to brain malformation and abnormalities of neuronal migrati
42 otein, CASK, recently implicated in X-linked brain malformation and ID.
43 ds DPYSL5 to the list of genes implicated in brain malformation and in neurodevelopmental disorders.
44 regulation of METTL1-WDR4 has been linked to brain malformation and multiple cancers(7-22).
45 nction, to explore how impairments may cause brain malformation and neurodevelopmental disease.
46 e EF-hand domains also result in distinctive brain malformation and provide experimental evidence tha
47  an autosomal recessive disorder with severe brain malformations and arthrogryposis in humans.
48                       Gene cloning for human brain malformations and degenerative disorders identifie
49 rological disorders, including developmental brain malformations and epilepsy.
50 tions as an important cause of epileptogenic brain malformations and establish megalencephaly, hemime
51 h is very often associated with other severe brain malformations and in most of the cases subsequent
52  complex results in muscular dystrophies and brain malformations and in some cases cellular polarity
53  congenital muscular dystrophies (CMDs) with brain malformations and mental retardation.
54                Up to one third of congenital brain malformations and neurodevelopmental disorders are
55 t HDLS-like neurological disorders, they had brain malformations and skeletal dysplasia compatible to
56 d merits neuroimaging to identify antecedent brain malformations and timing of injury, which can infl
57  and varying degrees of developmental delay, brain malformations, and additional phenotypes.
58 cephalopathy with burst suppression, without brain malformations, and demonstrate feasibility of gene
59 s in females and are associated with autism, brain malformations, and epilepsy.
60  display skeletal anomalies, kidney defects, brain malformations, and neurological anomalies, knockin
61  mechanisms can cause microcephaly and other brain malformations, and understanding them is critical
62                                              Brain malformations are individually rare but collective
63 y static encephalopathies in children have a brain malformation as their substrate.
64 evels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intelle
65 otein-coupled receptor family, cause a human brain malformation called bilateral frontoparietal polym
66 ons in the GPR56 gene cause a specific human brain malformation called bilateral frontoparietal polym
67                    Lissencephaly is a severe brain malformation caused by impaired neuronal migration
68 s taking place during embryonic development, brain malformations caused by ectopic proliferation of m
69         Primary microcephaly is a congenital brain malformation characterized by a head circumference
70 nd intellectual impairment, sharing a unique brain malformation characterized by agenesis of putamina
71          Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar v
72 orm of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete
73                                  Cobblestone brain malformation (COB) is a neuronal migration disorde
74 f rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy an
75 ouse: Pafah1b1) gene and is characterized by brain malformation, developmental delays, and epilepsy.
76 at various stages of development, leading to brain malformations, developmental delay, intellectual d
77                                  Whereas the brain malformation due to LIS1 mutations was more severe
78 unprecedented viable animal model for severe brain malformations due to defects in neural progenitor
79        Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration i
80 cteristics described here include structural brain malformations, dysmorphic facial features, and neo
81 s a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation.
82 oprosencephaly, the most frequent congenital brain malformation, explaining its drastically reduced p
83 cephaly, neural tube defects and other early brain malformations, eye abnormalities, and other centra
84           With time, a wide variety of other brain malformations has been ascribed to RTTN mutations,
85 ology and abnormal histology associated with brain malformations has been studied extensively, synapt
86                     Genetic studies of human brain malformation have proven a surprising source for f
87                        Congenital structural brain malformations have been described in patients with
88 opmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL
89 the frequency and clinical manifestations of brain malformations, however, has increased dramatically
90 ental defects such as abnormal body axis and brain malformation, implying disrupted cilia-related sig
91 y (HPE), which is the most common congenital brain malformation in humans.
92                    Lissencephaly is a severe brain malformation in which failure of neuronal migratio
93 eterotopia, also known as "double cortex," a brain malformation in which heterotopic gray matter is i
94  Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and
95 ause brain overgrowth, but here we show that brain malformations in apoptosis-deficient mutants are d
96 lum are among the most recognized structural brain malformations in human prenatal imaging.
97 decreased seizure thresholds associated with brain malformations in MAM-exposed rats.
98  Our goal was to systematically characterize brain malformations in patients with PTEN variants and a
99 l tissue development and the pathogenesis of brain malformations in reductionist in vitro paradigms.
100 gnant woman with Zika virus can cause severe brain malformations in the child such as microcephaly an
101                                      Midline brain malformations including corpus callosum abnormalit
102 ted individuals displayed a constellation of brain malformations including cortical gyral and white-m
103 ed adulthood showed reduced life expectancy, brain malformations including hippocampus hypoplasia and
104                                     Multiple brain malformations including overmigration of neocortic
105 brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, w
106 mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis
107 neurodevelopmental disorders associated with brain malformations, including corpus callosum agenesis
108 ycan in mice is sufficient to cause CMD-like brain malformations, including disarray of cerebral cort
109 iency of this process often results in major brain malformations, including human lissencephaly (smoo
110  These individuals have severe developmental brain malformations, including microcephaly and cerebell
111 te-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrom
112                       Despite these striking brain malformations, individuals with CMS generally do n
113 lding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizur
114                                              Brain malformations involving the corpus callosum are co
115 ction mutations in ZIC2 result in the severe brain malformation known as holoprosencephaly (HPE), ind
116               It is defined by a distinctive brain malformation known as the "molar tooth sign" on ax
117 bulin genes are associated with severe human brain malformations known as 'tubulinopathies'; however,
118 es are associated with a wide range of human brain malformations, known as tubulinopathies.
119 13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized
120 neuronal migration, causing the severe human brain malformation lissencephaly.
121 l genitalia, which typically includes severe brain malformations (lissencephaly, agenesis of the corp
122  various neurodevelopmental disorders (i.e., brain malformations, mental retardation, and autism).
123  accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis of corpus cal
124 autism spectrum disorder, seizures, variable brain malformations, muscular hypotonia, and scoliosis.
125 , 52%), genetic conditions (n = 9, 35%), and brain malformations (n = 7, 30%).
126  spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle we
127                                              Brain malformations occurred mainly in patients with sev
128     Holoprosencephaly is a relatively common brain malformation occurring in 5-12/100,000 live births
129             Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainste
130 ensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmet
131                                Children with brain malformations often exhibit an intractable form of
132 lymicrogyria frequently co-occurs with other brain malformations or as part of syndromic diseases.
133                              Nonetheless, no brain malformations or pathologies were evident.
134 r mechanisms connecting genetic mutations to brain malformation phenotypes are still poorly understoo
135                                              Brain malformations represent a heterogeneous group of a
136                        Prenatal detection of brain malformations requires a clear understanding of em
137         Lissencephaly is a severe congenital brain malformation resulting from incomplete neuronal mi
138 rietal polymicrogyria (BFPP) is a congenital brain malformation resulting in irregularities on the su
139 nsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients.
140 logical phenotypes (e.g. growth restriction, brain malformations, skeletal delays) in late-gestation
141 24a46 expression in zebrafish embryos caused brain malformation, spinal motor neuron loss, and poor m
142 of cortical dysgenesis leading to congenital brain malformations such as polymicrogyria consistent wi
143  involvement ranging from focal or segmental brain malformations (such as hemimegalencephaly and poly
144         Congenital muscular dystrophies with brain malformations, such as muscle-eye-brain disease, e
145     We do this from the perspective of human brain malformation syndromes, noting both what is now kn
146 o DEPDC5 mutations are often associated with brain malformations, tend to be drug-resistant, and have
147 tations may cause more subtle forms of human brain malformation than classic lissencephalies.
148  Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or
149 ular heterotopia (PNH) are two developmental brain malformations that have been described independent
150 Ds) are a heterogeneous family of congenital brain malformations that originate from disturbed develo
151 at least partly understood); (iii) localized brain malformations that significantly affect the brain
152 or genes is characterized by the presence of brain malformations, the cortical tubers that are though
153 odevelopmental disorders ranging from lethal brain malformations to adult phenotypes with normal brai
154 N variants and assess the relevance of their brain malformations to clinical presentation.
155 rpus callosum (AgCC), one of the most common brain malformations to identify differences in the effec
156 tive failure, muscular and motor control and brain-malformation) to comprehensively score patient sym
157 have been reported in a few individuals with brain malformations, to date.
158 the molecular basis of the devastating human brain malformation, type I lissencephaly (Lis1).
159 of known and candidate genes associated with brain malformations, we applied targeted high-coverage s
160 ng role of somatic variants across different brain malformations, we sought to delineate the landscap
161              In the past, children with many brain malformations were classified as having static enc
162           Of the twelve individuals, midline brain malformations were found in five, urogenital anoma
163 in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting

 
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