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1 , aniridia, genitourinary malformations, and mental retardation).
2 r ataxia, hypotonia, oculomotor apraxia, and mental retardation.
3 can result in Phenylketonuria, a progressive mental retardation.
4 limb and craniofacial development as well as mental retardation.
5 chorioretinal dysplasia, microcephaly and/or mental retardation.
6 set limb-girdle muscular dystrophies without mental retardation.
7 leading cause of childhood hearing loss and mental retardation.
8 tations of PHF8 are associated with X-linked mental retardation.
9 e use disorders, hyperkinetic disorders, and mental retardation.
10 nine kinase, which is implicated in X-linked mental retardation.
11 e disorder characterized by skin defects and mental retardation.
12 rved in mouse models and human patients with mental retardation.
13 tatistically significantly increased risk of mental retardation.
14 Mutations in CASK cause X-linked mental retardation.
15 ssociated with cobblestone lissencephaly and mental retardation.
16 drome (FXS) is the leading form of inherited mental retardation.
17 ubiquitylase associated with human syndromic mental retardation.
18 n lead to cerebral palsy, hydrocephalus, and mental retardation.
19 and in Drosophila mutants null for fragile X mental retardation 1 (dfmr1), as well as following chann
20 s at the neuromuscular junction in fragile x mental retardation 1 (dfmr1)-deficient Drosophila, sugge
21 is typically caused by the loss of fragile X mental retardation 1 (FMR1) expression, which codes for
23 00 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene can cause fragile X-ass
24 200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrom
25 00 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene cause fragile X-associa
27 eat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutati
28 drome (FXS), caused by loss of the Fragile X Mental Retardation 1 (FMR1) gene product (FMRP), is the
29 e-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) gene promoter results in its
30 om a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased
35 GG-repeat expansion alleles of the fragile X mental retardation 1 (FMR1) gene; current evidence suppo
36 neurons (PNs) in the cerebellum of Fragile X Mental Retardation 1 (Fmr1) knockout (KO) mice, a model
37 aptic signaling impairments in the fragile X mental retardation 1 (Fmr1) knockout (KO) model of fragi
38 pocampal tissue from wide type and fragile X mental retardation 1 (Fmr1) knockout mice, we show that
39 The gene underlying the disorder, fragile X mental retardation 1 (FMR1), is silenced in most cases b
41 FXR1 is an autosomal paralog of Fragile X mental retardation 1 and has not been directly linked to
44 nome segment upstream of the FMR1 (fragile X mental retardation 1) gene (Xq27.3) contains several gen
45 ecular analysis converged on FMR1 (Fragile X Mental Retardation 1), an important negative regulator o
46 e WAVE complex subunit cytoplasmic fragile X mental retardation 1-interacting protein 1 (Cyfip1).
48 iated protein-like 2 (Cntnap2)(5), fragile X mental retardation-1 (Fmr1)(6) or Sh3 and multiple ankyr
49 X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion
50 ad of aniridia, genitourinary anomalies, and mental retardation, a subgroup of WAGR syndrome for Wilm
51 lson syndrome (MWS), characterized by severe mental retardation and agenesis of the corpus callosum.
53 tible to develop neurologic symptoms such as mental retardation and autism than mutation-positive pat
54 ficient in the most common inherited form of mental retardation and autism, fragile X syndrome (FXS).
55 me (FXS), the most common cause of inherited mental retardation and autism, is caused by transcriptio
60 man X-linked genes have been associated with mental retardation and deficits in learning and memory.
62 hich Notch dysregulation are associated with mental retardation and dementia are poorly understood.
64 re associated with a diverse set of X-linked mental retardation and epilepsy syndromes in humans.
66 rtility and spontaneous abortions as well as mental retardation and inherited defects in their childr
67 enetic neurological disorder associated with mental retardation and intractable epilepsy, and Miller-
68 ions in their regulators are associated with mental retardation and other neurodevelopmental disorder
69 lative risks (RRs) for autistic disorder and mental retardation and rates per 100,000 person-years, c
70 ts support the mGluR hypothesis of fragile X mental retardation and suggest that deficient developmen
71 obesity, retinitis pigmentosa, polydactyly, mental retardation and susceptibility to cardiovascular
72 hich is the most prevalent form of inherited mental retardation and the primary monogenetic cause of
74 tor development (collectively abbreviated as mental retardation and/or disorders of psychological dev
75 disease causing homocystinuria, thrombosis, mental retardation, and a suite of other devastating man
78 The exclusion criteria included amblyopia, mental retardation, and concomitant ocular disease that
80 the neurological disorder cerebellar ataxia, mental retardation, and disequilibrium (CAMRQ) syndrome,
81 the neurological disorder cerebellar ataxia, mental retardation, and disequilibrium (CAMRQ) syndrome.
82 R81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause
85 e (FXS) is the most common form of inherited mental retardation, and it is caused by loss of function
86 sional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis
87 family that suffers from cerebellar ataxia, mental retardation, and quadrupedal locomotion syndrome
88 Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a r
89 (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that incl
91 f not treated promptly in infancy, can cause mental retardation, as the TH decrease results in improp
92 he creatine transporter SLC6A8, resulting in mental retardation associated with a complete absence of
93 osine kinase, have been observed in cases of mental retardation associated with developmental defects
94 osities are specifically linked to epilepsy, mental retardation, autism, schizophrenia and neuro-dege
99 (FXS) is the most common form of inheritable mental retardation caused by transcriptional silencing o
102 (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, deafness and ankylosis syndrome (MRD
103 A21 gene overexpression are thought to cause mental retardation, dementia and seizure in this disorde
104 ation of PHF6, which results in the X-linked mental retardation disorder Borjeson-Forssman-Lehmann sy
105 developmental delay/intellectual disability/mental retardation, Down syndrome, cerebral palsy, autis
106 TASK3 (G236R) is responsible for Birk Barel mental retardation dysmorphism syndrome, a maternally tr
107 e to severe neurological anomalies including mental retardation, dystonia, chorea, pyramidal signs an
110 135.7 vs 29.3 per 100,000 person-years); for mental retardation following ICSI using surgically extra
111 nsion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not include
112 The patient, who features microcephaly and mental retardation, has reached adulthood without the ty
113 an result in permanent neurological defects, mental retardation, hearing loss, visual impairment, and
115 it has a regulatory loop with the fragile X mental retardation homologue FXR1 and regulates dopamine
116 leading to neurological disorders including mental retardation, hyperactivity, cognitive impairment,
117 re to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycyt
120 ves effective in reducing the risks of CP or mental retardation in ELGANs by 30%, we estimate an over
121 nd is the second most common cause of severe mental retardation in females, after Down syndrome.
128 SAP102 and PAKs are associated with X-linked mental retardation in humans; thus, synapse formation me
129 as, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear an
131 f HDAC4 encoded by an allele associated with mental retardation is a gain-of-function nuclear repress
132 e cerebral cortex, an important target since mental retardation is an important component of many of
133 umor, aniridia, genitourinary anomalies, and mental retardation) is a rare syndrome caused by a conti
134 syndrome, the most common form of heritable mental retardation, is a developmental disorder with kno
135 ome (FXS), the most common form of inherited mental retardation, is a neurodevelopmental disorder cau
136 agile X syndrome, a common form of inherited mental retardation, is caused by loss of the fragile X m
137 ome (FXS), the most common form of inherited mental retardation, is caused by silencing of the FMR1 g
138 ome (FXS), the most common form of inherited mental retardation, is caused by the loss of the Fmr1 ge
139 ome (FXS), the most common heritable form of mental retardation, is characterized by synaptic dysfunc
140 t multisystemic neuromuscular phenotype with mental retardation, leading to premature death at age 36
141 mbocytopenia, facial dysmorphism, growth and mental retardation, malformation of the heart and other
142 psychiatric disorder associated with autism, mental retardation, motor abnormalities, and epilepsy.
143 Often, ciliopathies are associated with mental retardation (MR) and malformation of the corpus c
144 road range of conditions, including profound mental retardation, obesity, metabolic disorders, and a
146 ere given a diagnosis of mild or unspecified mental retardation or disorders of psychological and mot
147 ly, studies have tentatively elucidated that mental retardation or physical stagnation deteriorates a
150 ty, eating disorders, personality disorders, mental retardation, pervasive developmental disorders, a
152 inhibited the RNA-binding protein fragile X mental retardation protein (encoded by Fmr1), which cons
154 lay RNA-dependent interaction with fragile X mental retardation protein (FMRP) and bind to one anothe
155 iology associated with the loss of fragile X mental retardation protein (FMRP) and haploinsufficiency
156 cal region1 (DSCR1) interacts with Fragile X mental retardation protein (FMRP) and regulates both den
157 probability was reduced by loss of fragile X mental retardation protein (FMRP) and that FMRP acts on
158 and RNA binding proteins including Fragile X mental retardation protein (FMRP) and the related protei
159 Genes encoding the mRNA targets of fragile X mental retardation protein (FMRP) are enriched for genet
161 ardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndro
162 memory indicating that the loss of fragile X mental retardation protein (FMRP) causes defects in epis
163 rstand how the loss of function of fragile X mental retardation protein (FMRP) causes fragile X syndr
166 Loss of the gene (Fmr1) encoding Fragile X mental retardation protein (FMRP) causes increased mRNA
168 NIFICANCE STATEMENT The absence of Fragile X Mental Retardation Protein (FMRP) from birth results in
179 n synthesis resulting from loss of fragile X mental retardation protein (FMRP) is thought to underlie
181 fragile X syndrome, the absence of fragile X mental retardation protein (FMRP) leads to defects in pl
184 we show that the effect of loss of fragile X mental retardation protein (FMRP) on these pathways is b
185 P = .0062) and for targets of the fragile X mental retardation protein (FMRP) pathway (10 observed v
186 mate receptor signaling though the fragile X mental retardation protein (FMRP) pathway may underlie s
188 The tandem Agenet domain (TAD) of fragile X mental retardation protein (FMRP) protein is considered
195 e result of loss or dysfunction of fragile X mental retardation protein (FMRP), a highly selective RN
196 alizes to granules that label with fragile X mental retardation protein (FMRP), a transport granule c
199 ment that results from the loss of fragile X mental retardation protein (FMRP), an mRNA binding prote
200 (FXS) is caused by the loss of the fragile X mental retardation protein (FMRP), an RNA binding protei
201 escribe here an essential role for fragile X mental retardation protein (FMRP), an RNA-binding protei
203 n in mouse neurons, which requires fragile X mental retardation protein (FMRP), an RNA-binding protei
205 ealed reduced levels of endogenous fragile X mental retardation protein (FMRP), and a reporter contai
206 al leucine zipper kinase (DLK) and fragile X mental retardation protein (FMRP), control Dscam express
207 st because of its interaction with Fragile X mental retardation protein (FMRP), its upregulation in t
208 ing mRNAs that can be regulated by fragile X mental retardation protein (FMRP), some of which are dis
209 in translation and is dependent on fragile X mental retardation protein (FMRP), the protein that is d
211 nts that affect genes regulated by Fragile-X mental retardation protein (FMRP), thought to play a key
212 ut impair rapid translation of the Fragile X mental retardation protein (FMRP), which is absent in Fr
213 sults from the loss of function of fragile X mental retardation protein (FMRP), which represses trans
234 reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are e
235 Using male mice, we tested whether Fragile X Mental Retardation Protein (FMRPO), the protein whose ab
239 for LTH, these data indicate that fragile X mental retardation protein and Atx2 act via at least one
240 higher, more typical levels of the fragile X mental retardation protein and inversely correlated with
242 anslation-independent role for the fragile X mental retardation protein as a regulator of neural exci
244 ssociated protein interactors, the fragile X mental retardation protein complex, voltage-gated calciu
248 escue mice, we further reveal that fragile X mental retardation protein function in amygdala inhibito
249 ranslation-independent function of fragile X mental retardation protein has a major role in regulatin
250 We identify a novel role for the fragile-X mental retardation protein in the posttranscriptional re
252 a physical interaction between the X-linked mental retardation protein oligophrenin-1 (OPHN1) and Ho
253 t hYVH1 co-localizes with YB-1 and fragile X mental retardation protein on stress granules in respons
256 l regulatory complex that includes fragile X mental retardation protein, DEAD box helicase 5, and the
257 involved in synaptic pruning, the fragile-X mental retardation protein, increases sleep intensity du
258 Y box-binding protein 1 (YB-1) and fragile X mental retardation protein, proteins that function in tr
259 ational control of target mRNAs of fragile X mental retardation protein, the gene product of Fmr1.
260 present study shows that replacing Fragile X Mental Retardation Protein, which is absent in Fragile X
261 e of autism, is due to loss of the fragile X mental retardation protein, which regulates signal trans
262 nriched in G-quadruplex motifs and fragile X mental retardation protein-associated RNAs and that enco
268 al and child hypothyroidism may cause severe mental retardation, recent evidence suggests that milder
269 onstituents argonaute-2 (Ago2) and fragile X mental retardation-related protein 1 (FXR1) for translat
272 Down syndrome, the most prevalent cause of mental retardation, results from the presence of an extr
273 (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing l
275 kidney disease, genitourinary anomalies, and mental retardation, similar to the pathological defects
276 ams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hyp
277 ciated with wide-ranging symptoms, including mental retardation, speech and language impairment and o
278 15 synaptic proteins in normal and Fragile X mental retardation syndrome (FXS) model mouse cortex, an
279 domain-associated protein, alpha thalassemia/mental retardation syndrome X linked, switch/sucrose non
280 perone complex containing alpha-thalassaemia/mental retardation syndrome X-linked (ATRX) and death-do
282 telomere binding proteins alpha thalassemia/mental retardation syndrome X-linked (ATRX) or death-dom
283 d that the ND10 component, alpha-thalassemia/mental retardation syndrome X-linked (ATRX) protein, is
286 eafness, onychdystrophy, osteodystrophy, and mental retardation) syndrome, and identify endosome-to-l
287 spectrum of clinical outcomes, ranging from mental retardation to microcephaly, caused by congenital
288 tisystem genetic disease that manifests with mental retardation, tumor formation, autism, and epileps
289 ZMYM3 (zinc finger, myeloproliferative, and mental retardation-type 3) as a chromatin-interacting pr
290 h autism (MACROD2), development (NEDD4), and mental retardation (UBE2A) significantly associated with
292 rain, with clinical manifestations including mental retardation, vision impairment, and sensorineural
295 ciated with juvenile or adolescent onset and mental retardation, whereas we show that the presence of
296 SI using frozen embryos were significant for mental retardation (with frozen embryos, RR, 2.36 [95% C
297 e the Arabidopsis thaliana Alpha Thalassemia-mental Retardation X-linked (ATRX) ortholog and show tha
298 onal inactivation of ATRX (alpha-thalassemia mental retardation X-linked) represents a defining molec
299 cannot overcome Daxx- and alpha-thalassemia mental retardation, X-linked (ATRX)-mediated transcripti
300 erminal deletions of ATRX (Alpha Thalassemia/Mental Retardation, X-linked) that generate in-frame fus