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1 with many harboring CHD rare variants having macrocephaly.
2 act with genes implicated in microcephaly or macrocephaly.
3 e in a patient-specific model of autism with macrocephaly.
4 ng studies in 16p11.2 deletion carriers with macrocephaly.
5 methylation profile and a high penetrance of macrocephaly.
6 er have either severe microcephaly or severe macrocephaly.
7 particularly among individuals with comorbid macrocephaly.
8 features consistent with ASD associated with macrocephaly.
9  normocephaly or relatively milder micro- or macrocephaly.
10 lay, intellectual disability, hypotonia, and macrocephaly.
11  RRAS2 RNAs, showed craniofacial defects and macrocephaly.
12 log induced an increase of proliferation and macrocephaly.
13 tism spectrum disorder (ASD) with coincident macrocephaly.
14 -mTOR pathway, are a risk factor for ASD and macrocephaly.
15 ve been reported in individuals with ASD and macrocephaly.
16 ubset of autism spectrum disorder (ASD) with macrocephaly.
17 ism spectrum disorder (ASD) and accompanying macrocephaly.
18  = 42) with 1q21-associated microcephaly and macrocephaly.
19 ait macules (CALMs), axillary freckling, and macrocephaly.
20 uced a potential animal model of autism with macrocephaly.
21 nest indication and scanned body region were macrocephaly (18.8%) and the brain (76.8%), respectively
22 papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritabil
23  from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more va
24  by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.
25  generated from individuals with autism with macrocephaly also indicate prenatal development as a cri
26 ficantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature
27 ding, providing novel insights into ASD with macrocephaly and a new methodology for the analysis of g
28                      The association between macrocephaly and autism spectrum disorder (ASD) suggests
29 have been found in a subset of patients with macrocephaly and autism spectrum disorder (ASD).
30 and alters cortical neurogenesis, leading to macrocephaly and autistic-like behaviors.
31 calization results in a phenotype of extreme macrocephaly and autistic-like traits.
32                    The mutant mice exhibited macrocephaly and behavioral abnormalities reminiscent of
33 n specific neuronal populations can underlie macrocephaly and behavioral abnormalities reminiscent of
34  Wdfy3-haploinsufficient mice, which display macrocephaly and deficits in motor coordination and asso
35 fic genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the
36 tensive bilateral polymicrogyria, congenital macrocephaly and early-onset refractory epilepsy, in kee
37          Additionally, Pten mutant mice have macrocephaly and exhibit impairment in social interactio
38 ses presented with large ventricles, causing macrocephaly and hydrocephalus suspicion, and all cases
39 e other five individuals, who had (relative) macrocephaly and hypertelorism.
40 mber, thus providing compelling etiology for macrocephaly and Lhermitte-Duclos disease.
41     We show that organoid size recapitulates macrocephaly and microcephaly phenotypes observed in the
42 neurodevelopmental disorder characterized by macrocephaly and mild-to-moderate developmental delay th
43 n neurogenesis that may explain PTEN-related macrocephaly and Miller-Dieker lissencephaly.
44 exemplified by the hallmark features of BRR: macrocephaly and multiple lipomas, the latter of which o
45 dentified kaptin alterations responsible for macrocephaly and neurodevelopmental delay and define kap
46                                  We observed macrocephaly and neuronal hypertrophy, including hypertr
47 loinsufficiency for chd8 in zebrafish led to macrocephaly and posterior hindbrain displacement remini
48  leukodystrophy characterized by early-onset macrocephaly and progressive white matter vacuolation th
49 variation of PTEN is associated with autism, macrocephaly and PTEN hamartoma tumour syndromes.
50 ed individuals with intellectual disability, macrocephaly and seizures.
51         Loss of Pten resulted in progressive macrocephaly and seizures.
52          The resulting mutant mice exhibited macrocephaly and shortened limbs due to retarded endocho
53  9 unrelated individuals with autism without macrocephaly and with heterogeneous genetic backgrounds,
54   These genes characterize ID disorders with macrocephaly and/or overgrowth and comorbid ASD.
55 ts are predisposed to learning disabilities, macrocephaly, and brain tumors as well as abnormalities
56  a well-established risk factor for ASD with macrocephaly, and conditional Pten mouse models have imp
57 g early-onset epilepsy, developmental delay, macrocephaly, and corpus callosum abnormalities.
58 cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes.
59 bility, hypotonia, autism-spectrum disorder, macrocephaly, and dysmorphic features.
60 unrelated probands with developmental delay, macrocephaly, and dysmorphic features.
61  variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; half had intellec
62  exhibited cortical neurogenesis impairment, macrocephaly, and hallmark ASD behaviors, which resemble
63 sphatase, have been associated with gliomas, macrocephaly, and mental deficiencies.
64 esis were found to be important for ASD with macrocephaly, and novel co-occurrence patterns of them i
65 and body, including seizures, hyperactivity, macrocephaly, and obesity.
66 ated with intellectual disability, seizures, macrocephaly, and obesity.
67 evelopmental delay, intellectual disability, macrocephaly, and psychiatric disorders (autism spectrum
68 rome, which is characterized by lipomatosis, macrocephaly, and speckled penis, the PTEN hamartoma tum
69 ssively coarsening facial features, relative macrocephaly, and the absence of seizures.
70 n apoptosis in the developing brain, whereas macrocephaly arises by increased proliferation and no ch
71                                Children with macrocephaly associated with neurologic alterations, neu
72 henotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
73 2 (CCND2) stabilization underpins a range of macrocephaly-associated disorders through mutation of CC
74  describe three individuals with overlapping macrocephaly-associated phenotypes who carry the same re
75 subset of CD families and is associated with macrocephaly, ataxia and dysplastic cerebellar gangliocy
76 ase gene RAB39b are associated with X-linked macrocephaly, autism spectrum disorder (ASD), and intell
77 r of mTOR signaling, are prone to developing macrocephaly, autism spectrum disorder (ASD), seizures a
78 ntellectual disability, hypotonia, seizures, macrocephaly, autism spectrum disorder, and delayed moto
79  associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 61
80 n of early neurodevelopment is implicated in macrocephaly/autism disorders.
81 otential relevance to the pathophysiology of macrocephaly/autism syndrome and autism spectrum disorde
82 us Pten mutant mice (Pten(+/-)), which model macrocephaly/autism syndrome.
83 ty, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy with reduc
84 as second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and
85 neuronal knock-out of Pten in mice can cause macrocephaly, behavioral changes similar to ASD, and sei
86                   They had similar clinical (macrocephaly, broad faces, skin tags, motor dyspraxia, s
87 tal morbidities, pathological short stature, macrocephaly, cardiometabolic risk factors, and adult no
88  moderate-to-severe intellectual disability, macrocephaly caused by the presence of megalencephaly an
89 available for clinical assessment, including macrocephaly, characteristic facial features, renal anom
90 tal syndrome with characteristic features of macrocephaly, cognitive and motor dysfunction, subcutane
91 ent with missense variants (n = 9) exhibited macrocephaly, combined with mild-to-moderate development
92 vo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivat
93 n individuals from four families affected by macrocephaly, cranial hyperostosis, and vertebral endpla
94 hiPSC-derived NPCs from ASD individuals with macrocephaly display an altered DNA replication program
95 racteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal compl
96 elay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abno
97           Accelerated head and brain growth (macrocephaly) during development is a replicated biologi
98 ant found in an ASD-affected individual with macrocephaly dysregulates cortical neurogenesis in an AS
99 nd visual system abnormalities, weight loss, macrocephaly, growth failure, and precocious puberty als
100  mutated in a subset of autism patients with macrocephaly; however, the link between the role of PTEN
101 ociated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with
102 haracterized by mental retardation, relative macrocephaly, hypotonia and constipation.
103           Additional common features include macrocephaly, hypotonia, functional gastrointestinal abn
104  months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures.
105 d phenotypes including neuronal hypertrophy, macrocephaly, impaired myelination, network hyperactivit
106  autism spectrum disorders, characterized by macrocephaly, impaired social interactions and communica
107 are associated with a severe form of NDD and macrocephaly, indicating their importance in the etiolog
108 ted disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavio
109 omatous polyposis condition with features of macrocephaly, intestinal juvenile polyposis, development
110                                              Macrocephaly is a clinical term defined as an occipitofr
111                        By contrast, parental macrocephaly is predictive of a benign condition.
112                 Nevertheless, in some cases, macrocephaly is the clinical manifestation of a conditio
113 tion of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a
114                                              Macrocephaly, macroglossia and umbilical hernia were als
115  cases, as well as ~17% of ASD patients with macrocephaly, making it one of the top ASD-associated ri
116             We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and 158 possible AS
117 mirror phenotypes of obesity/underweight and macrocephaly/microcephaly.
118 ure and craniofacial malformations including macrocephaly, midface hypoplasia, micrognathia, frontal
119 with delayed puberty, hypogonadism, relative macrocephaly, moderate short stature, central obesity, u
120                 There are multiple causes of macrocephaly; most of them are benign.
121 ncoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures.
122  patients with (macro-ASD, n=16) and without macrocephaly (normo-ASD, n=38) and healthy controls (n=1
123    Carriers of 16p11.2 deletion tend to have macrocephaly (or brain enlargement), while those with 16
124 PP2R5D cause intellectual disabilities (ID), macrocephaly, Parkinsonism, and a broad range of neurolo
125 P RNA to rescue the chd8-suppression-induced macrocephaly phenotype and neuronal hyperproliferation.
126         Clinically, GA-I is characterized by macrocephaly, progressive dystonia and dyskinesia.
127 nition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelo
128 s have been associated with microcephaly and macrocephaly, respectively.
129 r disease develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, lead
130 re complex phenotypes, including progressive macrocephaly, seizures, and premature death.
131 nce, including neurological features such as macrocephaly, seizures, ataxia and Lhermitte-Duclos dise
132 s well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and au
133 hs), focal seizures, developmental delay and macrocephaly similar to previous reports.
134 al neurons in the mouse results in seizures, macrocephaly, social interaction deficits and anxiety, r
135 conditional knockout (CKO) mice demonstrated macrocephaly, spontaneous seizures and premature death.
136 on revealed poor visual contact, progressive macrocephaly, substantial axial hypotonia, and limb stif
137 repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variant
138 associated with mental retardation, relative macrocephaly, tremor and a peripheral neuropathy.
139 les of contradicting clinical features (e.g. macrocephaly versus microcephaly and upslanting versus d
140 mans WDFY3 loss-of-function variants lead to macrocephaly via downregulation of the Wnt pathway.
141 ditionally, neuronal hypertrophy, as well as macrocephaly was observed.
142 y neurodevelopmental alterations in ASD with macrocephaly, we monitored subject-derived induced pluri
143 f nuclear PTEN in the development of ASD and macrocephaly, we previously generated a mouse model with
144 lly significant features of microcephaly and macrocephaly were found in individuals with microdeletio
145    Infants commonly present with progressive macrocephaly whereas children older than 2 years general
146 otypes characterized by chondrodysplasia and macrocephaly, which affect endochondral and intramembran
147 pectrum disorders (ASD) frequently accompany macrocephaly, which often involves hydrocephalic enlarge
148 utatively causing haploinsufficiency lead to macrocephaly, while an opposing pathomechanism due to va

 
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