コーパス検索結果 (１語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 l autism, and other or unspecified pervasive developmental disorders).
2 a new strategy for treating this intractable developmental disorder.
3 lead to focal dermal hypoplasia, an X-linked developmental disorder.
4 smorphism syndrome, a maternally transmitted developmental disorder.
5 mental disorder, subthreshold condition, or developmental disorder.
6 elopment within individuals with this common developmental disorder.
7 have been demonstrated in Seckel syndrome, a developmental disorder.
8 odification might give rise to a multisystem developmental disorder.
9 f genetics and environment to this pervasive developmental disorder.
10 o be dysregulated in at least one disease or developmental disorder.
11 s challenging, particularly for intellectual developmental disorder.
12 f the cerebral cortex (MCCs) are devastating developmental disorders.
13 and the importance of this process in human developmental disorders.
14 of this mutational category in children with developmental disorders.
15 ity could be utilized for early diagnosis of developmental disorders.
16 ems of diagnosis and trait ascertainment for developmental disorders.
17 e frequently encountered in individuals with developmental disorders.
18 ies that potentially lead to infertility and developmental disorders.
19 arge independent cohorts of individuals with developmental disorders.
20 burden of structural mosaicism as a cause of developmental disorders.
21 sfunction such as that seen in ASD and other developmental disorders.
22 , and high vulnerability to risk factors and developmental disorders.
23 and alterations in this process can lead to developmental disorders.
24 ing and in turn new routes to better address developmental disorders.
25 this work further and address its impact on developmental disorders.
26 ential diagnoses for patients with suspected developmental disorders.
27 of cognitive, addictive, mood, anxiety, and developmental disorders.
28 ps with that of several chromatin-remodeling developmental disorders.
29 mplicated in multiple human cancers and some developmental disorders.
30 ent and mostly seen among those with serious developmental disorders.
31 ater risk than term infants for physical and developmental disorders.
32 ease with characteristic facial features and developmental disorders.
33 incRNAs may play a significant role in human developmental disorders.
34 earning and memory in animal models of early developmental disorders.
35 establishing its causal contribution to NER developmental disorders.
36 o-opted or abated to drive human cancers and developmental disorders.
37 ociated with a variety of disease states and developmental disorders.
38 rs (ASDs) are a heterogeneous group of neuro-developmental disorders.
39 sive Compulsive Scale modified for Pervasive Developmental Disorders.
40 oking-associated pregnancy complications and developmental disorders.
41 s generated much interest in the genetics of developmental disorders.
42 ditional candidates for dominantly inherited developmental disorders.
43 d will undoubtedly shed light on many neural developmental disorders.
44 ive Compulsive Scales modified for pervasive developmental disorders.
45 ive Compulsive Scales modified for pervasive developmental disorders.
46 tation in numerous human cancers and certain developmental disorders.
47 hematopoietic disease and those resulting in developmental disorders.
48 genotypes associated with many neurological/developmental disorders.
49 lies with higher than typical frequencies of developmental disorders.
50 ns in the cohesin pathway resulting in human developmental disorders.
51 ities and cerebral folate deficiency-related developmental disorders.
52 logues associated with neurodegenerative and developmental disorders.
53 ers (PBDEs), but few have examined diagnosed developmental disorders.
54 tudying human brain development and modeling developmental disorders.
55 isms, and its dysregulation is implicated in developmental disorders.
56 bers or ciliary proteins cause a spectrum of developmental disorders.
57 riants in GLI2 and GLI3 are found in several developmental disorders.
58 oteins has been implicated in multiple human developmental disorders.
59 chool success and are implicated in numerous developmental disorders.
60 order (ASD) and Fragile X syndrome (FXS) are developmental disorders.
61 amily members are associated with cancer and developmental disorders.
62 , and KMT5B haploinsufficiency with dominant developmental disorders.
63 nction is linked to a variety of cancers and developmental disorders.
64 disrupts developmental patterning and causes developmental disorders [1, 2], and in mature tissues, i
65 anxiety disorders, 3.2 (95% CI=2.0-5.3) for developmental disorders, 2.7 (95% CI=1.6-4.3) for addict
66 ac conduction disease, and a newly described developmental disorder (6p22 syndrome) is located at 6p2
69 er, this study reports MAP3K7 mutations in a developmental disorder affecting mainly cartilage, bone,
70 e c.226del2 proband revealed a primary brain developmental disorder affecting thalamostriatal and cal
71 ent dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment o
72 genetics have increased the understanding of developmental disorders affecting the midbrain and hindb
73 including lncRNA genes, cause a lethal lung developmental disorder, alveolar capillary dysplasia wit
74 reviewed the available literature addressing developmental disorder and disability and developmental
75 ons in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical or
76 sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnorma
77 cutively enrolled patients with intellectual developmental disorder and unexplained metabolic phenoty
78 e-scale mosaicism between 1303 children with developmental disorders and 5094 children lacking develo
79 er, with more striking array of prepsychotic developmental disorders and abnormalities in brain devel
80 g abnormalities with respect to prepsychotic developmental disorders and abnormities in the brain dev
81 s CNVs are also a major cause of genetic and developmental disorders and arise frequently in cancer c
82 bations to the ERK signaling pathway lead to developmental disorders and cancer hinges critically on
88 on of apical-basal polarity is implicated in developmental disorders and cancer; however, the mechani
90 ological outcomes and is involved in various developmental disorders and disease states including can
92 diverse, rare and genetically heterogeneous developmental disorders and identified four new autosoma
93 s, personality disorders, organic disorders, developmental disorders and intellectual disability.
97 roke, mental/addictive disorders, paediatric/developmental disorders and neurodegeneration/ageing ide
98 ms, most of the children presented different developmental disorders and neurological symptoms - most
99 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-d
100 s or deletion of WT1 result in a spectrum of developmental disorders and susceptibility to Wilms' tum
102 now known to be a major cause of genetic and developmental disorders and to arise somatically in many
104 oF carriers among 4,281 children with severe developmental disorders and two more carriers in an inde
106 omia, mild developmental delay and pervasive developmental disorder, and results in shared facial dys
107 as applied to 4911 patients with undiagnosed developmental disorders, and 11 events among nine patien
108 ity disorders, mental retardation, pervasive developmental disorders, and behavioral and emotional di
109 dressing these illnesses as brain disorders, developmental disorders, and complex genetic disorders--
110 l divisions that characterized the pervasive developmental disorders are now collapsed into a single
112 le X Syndrome (FX) is generally considered a developmental disorder, arising from a mutation that dis
113 r neurotransmission that are linked to neuro-developmental disorders as autism or schizophrenia.
114 mmon concurrent central nervous system (CNS) developmental disorders as well as assessment of charact
115 Alagille syndrome (AGS) is a heterogeneous developmental disorder associated with bile duct paucity
116 syndrome is a distinct, autosomal-recessive, developmental disorder associated with dysfunction of th
117 abuki syndrome (KS) is a complex multisystem developmental disorder associated with mutation of genes
118 hyperactivity disorder (ADHD) is a prevalent developmental disorder, associated with a range of long-
119 e maternal chromosome is associated with the developmental disorder Beckwith Wiedemann Syndrome (BWS)
120 es that are frequently mutated in cancer and developmental disorders, becomes functional when anchore
121 growth and deafness), an autosomal-dominant developmental disorder belonging to a relatively prevale
122 omeostasis, and its perturbation can lead to developmental disorders, birth defects, and cancers.
123 ities for the study of early development and developmental disorders, but it may also raise substanti
124 TYK were implicated in congenital urological developmental disorders, but our study identifies differ
125 al nutritional supplementation can alleviate developmental disorders by inadvertently establishing la
126 components of the Ras/MAPK pathway result in developmental disorders called RASopathies, affecting ab
129 from patients with Costello syndrome (CS), a developmental disorder caused by abnormal Ras signaling
130 une deficiency (EDI) is an immunological and developmental disorder caused by alterations in the gene
131 ectrum disorders (ASDs) are highly heritable developmental disorders caused by a heterogeneous collec
133 n-deficit/hyperactivity disorder (ADHD) is a developmental disorder characterized by a deficit in beh
135 Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital catar
138 ecific language impairment (SLI) is a common developmental disorder characterized by difficulties in
139 rimordial dwarfism type I (MOPD I), a severe developmental disorder characterized by extreme intraute
140 enal syndrome (BOR) is an autosomal dominant developmental disorder characterized by hearing loss, br
141 omelic chondrodysplasia punctata (RCDP) is a developmental disorder characterized by hypotonia, catar
142 le-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual dis
143 odeling gene, cause Coffin-Siris syndrome, a developmental disorder characterized by intellectual dis
145 al protein lead to ulnar-mammary syndrome, a developmental disorder characterized by limb, mammary gl
146 primary cause of CHARGE syndrome, a complex developmental disorder characterized by the co-occurrenc
148 YCN are associated with Feingold syndrome, a developmental disorder characterized in part by congenit
149 ffects are selectively impaired in autism, a developmental disorder characterized in part by impairme
150 yndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and
151 plasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth
153 Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral conge
154 K signaling pathway underlie several related developmental disorders collectively termed neuro-cardio
155 s containing mutations identified in certain developmental disorders constitutively heterodimerize an
156 NippedBL/Mau2), mutations in which cause the developmental disorder Cornelia de Lange syndrome in hum
157 ntinued interrogation of oncogenes in benign developmental disorders could provide insight into funda
158 cale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Cli
163 in DYRK1A account for nearly 0.5% of severe developmental disorders due to substantially reduced kin
164 approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles
165 linked to human disease, including a severe developmental disorder encompassing brain and skeletal a
166 ause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological
168 of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progres
169 ive Compulsive Scales modified for pervasive developmental disorders from baseline (mean [SD], -2.0 [
170 on de novo and segregating variants in known developmental disorder genes, we achieved a diagnostic y
174 nt causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome
175 est that the boundaries around the pervasive developmental disorders have not been substantially alte
176 es of trios with intellectual disability and developmental disorders (ID/DD) and successfully identif
177 e term intellectual disability (intellectual developmental disorder, IDD) in DSM-5 represents a shift
179 sive primary microcephaly (MCPH) is a neural developmental disorder in which patients display signifi
180 ion of an important biomarker of chronic and developmental disorders in children as driven by the env
181 dysplasias (FFDDs) are a group of inherited developmental disorders in which the characteristic diag
182 , antenatal alcohol exposure elicits various developmental disorders, in particular in the brain.
183 nction for NDE1, whose mutations cause brain developmental disorders, in safeguarding the genome thro
184 tification of infants at risk for a range of developmental disorders including autism and dyslexia.
186 oteins have been implicated in several human developmental disorders, including Cornelia de Lange (Cd
187 al circuitry and establish vulnerability for developmental disorders, including schizophrenia and aut
188 and duplications, have been associated with developmental disorders, including schizophrenia, autism
190 of DNA methylation at genes associated with developmental disorders, including those affecting the c
191 te deficiency impairs this cycle, leading to developmental disorders, including those of the nervous
192 egulation of TANK-binding kinase 1 (TBK1) to developmental disorders, inflammatory disease, and cance
193 s study demonstrates RBM20 familial DCM is a developmental disorder initiated by molecular defects th
194 romosome instability but are also a cause of developmental disorders involving defective asymmetric c
195 isorders under study, for example, pervasive developmental disorders (IRR, 9.45; 95% CI, 5.64-14.69)
197 with TRIO and HACE1, a sub-category of rare developmental disorders is emerging with RAC1 as the cen
199 osphate-5-phosphatase that is mutated in the developmental disorders Joubert and MORM syndromes, is e
200 ncorporates an increased risk for cerebellar developmental disorders likely contributing to motor and
201 brofaciothoracic (CFT) dysplasia spectrum, a developmental disorder linked to TMCO1 dysfunction, and
202 oss of Reelin function results in the severe developmental disorder lissencephaly and is associated w
203 have been associated with carcinogenesis and developmental disorders, making Mek1 and Mek2 prime ther
204 lpuech, and Michels (3MC) syndrome, a severe developmental disorder manifested by cleft palate, intel
205 ed in cancer, whereas mutations in p63 cause developmental disorders manifested in ectodermal dysplas
207 between atypical language lateralization and developmental disorders may benefit if we reconceptualiz
209 human diseases, including immunological and developmental disorders, neurodegeneration, and cancer.
210 ety of human cancers, as well as the related developmental disorders Noonan, LEOPARD, and cardiofacio
211 ism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128)
213 ic disorder, Asperger syndrome, or pervasive developmental disorder, not otherwise specified; had ill
214 m disorders, Asperger disorder, or pervasive developmental disorder, not otherwise specified; had ill
215 trum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Aspe
216 ressive osseous heteroplasia (POH) is a rare developmental disorder of heterotopic ossification (HO)
217 estigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has i
219 veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining histolo
220 he sensitive period can lead to amblyopia, a developmental disorder of vision affecting approximately
221 ative disorders like Parkinson's disease and developmental disorders of brain like autism in which ox
225 esch-Nyhan disease, schizophrenia, and other developmental disorders of frontostriatal circuit dysfun
226 of mental illnesses can be conceptualized as developmental disorders of neural interactions within th
227 Gray matter heterotopia occurred with other developmental disorders of the central nervous system ra
228 r heterotopia occurred more often with other developmental disorders of the central nervous system ra
229 ing, neuropathology, and neurogenetics, many developmental disorders of the midbrain and hindbrain ha
230 ng longevity of patients with congenital and developmental disorders of the nervous system reflects t
233 Children with CHD are at increased risk of developmental disorder or disabilities or developmental
234 For those deemed to be at high risk for developmental disorder or disabilities or for developmen
235 evaluation, reevaluation, and management of developmental disorder or disability has been constructe
236 processes and discuss them in the context of developmental disorders or birth defects commonly seen i
237 directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis.
238 rts for improving outcomes for children with developmental disorders or lower-functioning autism spec
239 a potential avenue to direct neurogenesis in developmental disorders or regenerative settings without
241 tistic disorder or other specified pervasive developmental disorder (PDD) including Asperger syndrome
242 ldren have been reported as having Pervasive Developmental Disorder (PDD), which is another name for
243 children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses.
244 on of diverse human pathologies that include developmental disorders, premature aging, infertility an
246 he method on 1057 trios from the Deciphering Developmental Disorders project, a trio-based rare disea
247 of systemic, neurological, psychiatric, and developmental disorders put drivers at potential increas
250 rder (ASD) have proposed that this prevalent developmental disorder results from impairment of global
251 tional activation of Ras found in cancer and developmental disorders, Rho GTPases are activated most
252 cation, is the only gene associated with the developmental disorder Schimke immuno-osseous dysplasia
253 hiatric and neurological disorders including developmental disorders, schizophrenia, affective disord
254 and Kallmann syndrome (KS) are two distinct developmental disorders sharing overlapping features of
255 lesterol production leads to the devastating developmental disorder, Smith-Lemli-Opitz syndrome.
257 ere identified from the UK-based Deciphering Developmental Disorders study and one from the Northern
258 for 87.3% of mutations from the Deciphering Developmental Disorders Study with a 78.5% accuracy for
259 se diagnoses in TBL1XR1 from the Deciphering Developmental Disorders study, together with population
261 l in understanding the etiology of pervasive developmental disorders such as autism spectrum disorder
262 pinpoints co-enriched genes as new causes of developmental disorders such as cleft palate and congeni
263 ith a variety of human diseases ranging from developmental disorders such as holoprosencephaly to cer
265 ciated with, or are candidates for, dominant developmental disorders tend to have a higher level of t
266 in faciogenital dysplasia, an X-linked human developmental disorder that adversely affects the format
268 w paradigm of familial DCM pathogenesis as a developmental disorder that is patterned during early ca
269 ysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber
270 have been identified in five distinct human developmental disorders that are characterized by limb a
271 cortical development include a wide range of developmental disorders that are common causes of neurod
272 ting the behavioral effects of PCE and other developmental disorders that are generated through abnor
273 of FGFR3 are responsible for a collection of developmental disorders that feature poor endochondral b
274 over development, and may lend insight into developmental disorders that involve BG dysfunction, par
275 formations associated with later generalized developmental disorders that significantly affect the br
276 ajor psychiatric, neurological and childhood developmental disorders through mendelian and complex ge
277 these networks found in naturally occurring developmental disorders, transgenic animals, and highly
279 hen aberrantly regulated, is associated with developmental disorders, tumorigenesis, and cancer.
281 ng-term observations of individuals with the developmental disorder undergoing continual oxytocin adm
282 opmental disorders and 5094 children lacking developmental disorders, using an analytical pipeline we
286 planation for 'chromothripsis' in cancer and developmental disorders, where isolated chromosomes or c
288 0 live births, is a X-linked pervasive neuro-developmental disorder which is caused, in the vast majo
289 izencephaly is a rare central nervous system developmental disorder, which is very often associated w
290 um disorder (ASD) is a brain-based pervasive developmental disorder, which-by growing consensus-is as
291 y investigated yet undiagnosed children with developmental disorders, whilst minimising incidental fi
292 phenotypically heterogeneous group of human developmental disorders whose root cause is the absence
294 n form of heritable mental retardation, is a developmental disorder with known effects within sensory
295 ita and genital anomalies) is an undergrowth developmental disorder with life-threatening consequence
296 previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic ske
297 n-Pick Type C (NPC) disease is a devastating developmental disorder with progressive and fatal neurod
299 rome and IMAGe syndrome in humans, which are developmental disorders with increased incidents of pala
WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。