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1 , aniridia, genitourinary malformations, and mental retardation).
2 set limb-girdle muscular dystrophies without mental retardation.
3 leading cause of childhood hearing loss and mental retardation.
4 tations of PHF8 are associated with X-linked mental retardation.
5 e use disorders, hyperkinetic disorders, and mental retardation.
6 nine kinase, which is implicated in X-linked mental retardation.
7 e disorder characterized by skin defects and mental retardation.
8 rved in mouse models and human patients with mental retardation.
9 tatistically significantly increased risk of mental retardation.
10 Mutations in CASK cause X-linked mental retardation.
11 ssociated with cobblestone lissencephaly and mental retardation.
12 drome (FXS) is the leading form of inherited mental retardation.
13 d to severe autosomal recessive nonsyndromic mental retardation.
14 diseases such as Rett syndrome and fragile X mental retardation.
15 of the protein are associated with X-linked mental retardation.
16 X syndrome (FXS), the most common heritable mental retardation.
17 urodevelopmental disorders that cause severe mental retardation.
18 n lead to cerebral palsy, hydrocephalus, and mental retardation.
19 r ataxia, hypotonia, oculomotor apraxia, and mental retardation.
20 can result in Phenylketonuria, a progressive mental retardation.
21 limb and craniofacial development as well as mental retardation.
22 and in Drosophila mutants null for fragile X mental retardation 1 (dfmr1), as well as following chann
23 s at the neuromuscular junction in fragile x mental retardation 1 (dfmr1)-deficient Drosophila, sugge
24 is typically caused by the loss of fragile X mental retardation 1 (FMR1) expression, which codes for
26 00 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene can cause fragile X-ass
27 200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrom
28 00 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene cause fragile X-associa
32 syndrome (FXS), caused by loss of fragile X mental retardation 1 (FMR1) gene function, is the most c
33 eat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutati
34 drome (FXS), caused by loss of the Fragile X Mental Retardation 1 (FMR1) gene product (FMRP), is the
35 e-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) gene promoter results in its
36 om a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased
42 GG-repeat expansion alleles of the fragile X mental retardation 1 (FMR1) gene; current evidence suppo
43 aptic signaling impairments in the fragile X mental retardation 1 (Fmr1) knockout (KO) model of fragi
44 d in the 5' untranslated region of fragile X mental retardation 1 (FMR1) mRNA, cause fragile X-associ
45 The gene underlying the disorder, fragile X mental retardation 1 (FMR1), is silenced in most cases b
47 FXR1 is an autosomal paralog of Fragile X mental retardation 1 and has not been directly linked to
50 nome segment upstream of the FMR1 (fragile X mental retardation 1) gene (Xq27.3) contains several gen
51 ecular analysis converged on FMR1 (Fragile X Mental Retardation 1), an important negative regulator o
53 X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion
54 ad of aniridia, genitourinary anomalies, and mental retardation, a subgroup of WAGR syndrome for Wilm
55 lson syndrome (MWS), characterized by severe mental retardation and agenesis of the corpus callosum.
57 tible to develop neurologic symptoms such as mental retardation and autism than mutation-positive pat
58 ficient in the most common inherited form of mental retardation and autism, fragile X syndrome (FXS).
59 me (FXS), the most common cause of inherited mental retardation and autism, is caused by transcriptio
60 ounced neurological deficits associated with mental retardation and autism, the degree to which neoco
65 man X-linked genes have been associated with mental retardation and deficits in learning and memory.
67 hich Notch dysregulation are associated with mental retardation and dementia are poorly understood.
69 re associated with a diverse set of X-linked mental retardation and epilepsy syndromes in humans.
71 rtility and spontaneous abortions as well as mental retardation and inherited defects in their childr
72 enetic neurological disorder associated with mental retardation and intractable epilepsy, and Miller-
73 erized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by
74 ions in their regulators are associated with mental retardation and other neurodevelopmental disorder
75 , a genetic disorder that is associated with mental retardation and other, case- and sex-dependent cl
76 lative risks (RRs) for autistic disorder and mental retardation and rates per 100,000 person-years, c
77 ts support the mGluR hypothesis of fragile X mental retardation and suggest that deficient developmen
78 obesity, retinitis pigmentosa, polydactyly, mental retardation and susceptibility to cardiovascular
80 tor development (collectively abbreviated as mental retardation and/or disorders of psychological dev
81 disease causing homocystinuria, thrombosis, mental retardation, and a suite of other devastating man
84 The exclusion criteria included amblyopia, mental retardation, and concomitant ocular disease that
86 R81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause
89 e (FXS) is the most common form of inherited mental retardation, and it is caused by loss of function
90 sional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis
91 family that suffers from cerebellar ataxia, mental retardation, and quadrupedal locomotion syndrome
92 Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a r
94 f not treated promptly in infancy, can cause mental retardation, as the TH decrease results in improp
95 he creatine transporter SLC6A8, resulting in mental retardation associated with a complete absence of
96 osine kinase, have been observed in cases of mental retardation associated with developmental defects
97 as 3q29 deletions, are also associated with mental retardation, autism spectrum disorders, and epile
98 osities are specifically linked to epilepsy, mental retardation, autism, schizophrenia and neuro-dege
102 yndrome is the most common type of inherited mental retardation caused by the absence of FMRP protein
103 (FXS) is the most common form of inheritable mental retardation caused by transcriptional silencing o
106 (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, deafness and ankylosis syndrome (MRD
107 A21 gene overexpression are thought to cause mental retardation, dementia and seizure in this disorde
108 ation of PHF6, which results in the X-linked mental retardation disorder Borjeson-Forssman-Lehmann sy
109 developmental delay/intellectual disability/mental retardation, Down syndrome, cerebral palsy, autis
110 TASK3 (G236R) is responsible for Birk Barel mental retardation dysmorphism syndrome, a maternally tr
111 e to severe neurological anomalies including mental retardation, dystonia, chorea, pyramidal signs an
112 135.7 vs 29.3 per 100,000 person-years); for mental retardation following ICSI using surgically extra
113 nsion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not include
114 at leads to DNA methylation of the fragile X mental retardation gene 1 (FMR1) and transcriptional sil
117 The patient, who features microcephaly and mental retardation, has reached adulthood without the ty
118 an result in permanent neurological defects, mental retardation, hearing loss, visual impairment, and
120 it has a regulatory loop with the fragile X mental retardation homologue FXR1 and regulates dopamine
121 leading to neurological disorders including mental retardation, hyperactivity, cognitive impairment,
122 re to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycyt
124 ves effective in reducing the risks of CP or mental retardation in ELGANs by 30%, we estimate an over
125 nd is the second most common cause of severe mental retardation in females, after Down syndrome.
134 SAP102 and PAKs are associated with X-linked mental retardation in humans; thus, synapse formation me
135 as, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear an
137 f HDAC4 encoded by an allele associated with mental retardation is a gain-of-function nuclear repress
138 ), a well-recognized form of inherited human mental retardation is caused, in most cases, by a CGG tr
139 umor, aniridia, genitourinary anomalies, and mental retardation) is a rare syndrome caused by a conti
140 syndrome, the most common form of heritable mental retardation, is a developmental disorder with kno
141 ome (FXS), the most common form of inherited mental retardation, is a neurodevelopmental disorder cau
142 agile X syndrome, a common form of inherited mental retardation, is caused by loss of the fragile X m
143 ome (FXS), the most common form of inherited mental retardation, is caused by silencing of the FMR1 g
144 ome (FXS), the most common form of inherited mental retardation, is caused by the loss of the Fmr1 ge
145 ome (FXS), the most common heritable form of mental retardation, is characterized by synaptic dysfunc
146 t multisystemic neuromuscular phenotype with mental retardation, leading to premature death at age 36
147 (FXS) is a multi-organ disease that leads to mental retardation, macro-orchidism in males and prematu
148 mbocytopenia, facial dysmorphism, growth and mental retardation, malformation of the heart and other
149 psychiatric disorder associated with autism, mental retardation, motor abnormalities, and epilepsy.
150 Often, ciliopathies are associated with mental retardation (MR) and malformation of the corpus c
151 locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family.
152 road range of conditions, including profound mental retardation, obesity, metabolic disorders, and a
153 romosome 21-encoded kinase implicated in the mental retardation of Down syndrome, phosphorylates prim
155 ere given a diagnosis of mild or unspecified mental retardation or disorders of psychological and mot
156 ly, studies have tentatively elucidated that mental retardation or physical stagnation deteriorates a
159 ty, eating disorders, personality disorders, mental retardation, pervasive developmental disorders, a
162 lay RNA-dependent interaction with fragile X mental retardation protein (FMRP) and bind to one anothe
163 iology associated with the loss of fragile X mental retardation protein (FMRP) and haploinsufficiency
164 cal region1 (DSCR1) interacts with Fragile X mental retardation protein (FMRP) and regulates both den
165 probability was reduced by loss of fragile X mental retardation protein (FMRP) and that FMRP acts on
166 and RNA binding proteins including Fragile X mental retardation protein (FMRP) and the related protei
167 ardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndro
168 memory indicating that the loss of fragile X mental retardation protein (FMRP) causes defects in epis
170 rstand how the loss of function of fragile X mental retardation protein (FMRP) causes fragile X syndr
171 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
180 fragile X syndrome, the absence of fragile X mental retardation protein (FMRP) leads to defects in pl
182 local translational regulation by fragile X mental retardation protein (FMRP) linked to fragile X sy
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
191 Loss of the RNA-binding protein fragile X mental retardation protein (FMRP) represents the most co
196 e result of loss or dysfunction of fragile X mental retardation protein (FMRP), a highly selective RN
197 It is associated with the lack of fragile X mental retardation protein (FMRP), a regulator of protei
198 alizes to granules that label with fragile X mental retardation protein (FMRP), a transport granule c
199 ncing, resulting in the absence 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
204 t this transition is controlled by 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 eletal-associated protein (ARC) or fragile X mental retardation protein (FMRP), translation events ar
213 ut impair rapid translation of the Fragile X mental retardation protein (FMRP), which is absent in Fr
214 nd specifically capture endogenous Fragile X Mental Retardation Protein (FMRP), which recognizes this
215 is caused by loss of expression of fragile X mental retardation protein (FMRP), which regulates synap
216 syndrome is caused by the loss of fragile X mental retardation protein (FMRP), which represses and r
217 sults from the loss of function of fragile X mental retardation protein (FMRP), which represses trans
239 the RNA-binding fragile X protein [fragile X mental retardation protein (FMRP)] results in a spectrum
240 reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are e
243 for LTH, these data indicate that fragile X mental retardation protein and Atx2 act via at least one
244 higher, more typical levels of the fragile X mental retardation protein and inversely correlated with
246 ssociated protein interactors, the fragile X mental retardation protein complex, voltage-gated calciu
249 escue mice, we further reveal that fragile X mental retardation protein function in amygdala inhibito
250 al consequences of the loss of the fragile X mental retardation protein in the PFC of Fmr1 KO mice, a
252 r despite consistent expression of fragile X mental retardation protein levels at approximately 50% o
253 a physical interaction between the X-linked mental retardation protein oligophrenin-1 (OPHN1) and Ho
254 t hYVH1 co-localizes with YB-1 and fragile X mental retardation protein on stress granules in respons
258 l regulatory complex that includes fragile X mental retardation protein, DEAD box helicase 5, and the
259 involved in synaptic pruning, the fragile-X mental retardation protein, increases sleep intensity du
260 Y box-binding protein 1 (YB-1) and fragile X mental retardation protein, proteins that function in tr
261 ational control of target mRNAs of fragile X mental retardation protein, the gene product of Fmr1.
262 e of autism, is due to loss of the fragile X mental retardation protein, which regulates signal trans
263 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 kidney disease, genitourinary anomalies, and mental retardation, similar to the pathological defects
274 ams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hyp
275 15 synaptic proteins in normal and Fragile X mental retardation syndrome (FXS) model mouse cortex, an
276 lling proteins and is mutated in an X-linked mental retardation syndrome associated with alpha-thalas
277 domain-associated protein, alpha thalassemia/mental retardation syndrome X linked, switch/sucrose non
278 perone complex containing alpha-thalassaemia/mental retardation syndrome X-linked (ATRX) and death-do
280 telomere binding proteins alpha thalassemia/mental retardation syndrome X-linked (ATRX) or death-dom
281 d that the ND10 component, alpha-thalassemia/mental retardation syndrome X-linked (ATRX) protein, is
283 was previously described in a mild-moderate mental retardation syndrome, exonic duplications in the
285 eafness, onychdystrophy, osteodystrophy, and mental retardation) syndrome, and identify endosome-to-l
286 related with impaired cognitive abilities in mental retardation, the causes of these malformations ar
287 inuria (HCU) which, if untreated, results in mental retardation, thromboembolic complications and con
288 spectrum of clinical outcomes, ranging from mental retardation to microcephaly, caused by congenital
289 tisystem genetic disease that manifests with mental retardation, tumor formation, autism, and epileps
290 ZMYM3 (zinc finger, myeloproliferative, and mental retardation-type 3) as a chromatin-interacting pr
291 h autism (MACROD2), development (NEDD4), and mental retardation (UBE2A) significantly associated with
293 rain, with clinical manifestations including mental retardation, vision impairment, and sensorineural
296 ciated with juvenile or adolescent onset and mental retardation, whereas we show that the presence of
298 SI using frozen embryos were significant for mental retardation (with frozen embryos, RR, 2.36 [95% C
299 e the Arabidopsis thaliana Alpha Thalassemia-mental Retardation X-linked (ATRX) ortholog and show tha
300 cannot overcome Daxx- and alpha-thalassemia mental retardation, X-linked (ATRX)-mediated transcripti
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