ライフサイエンスコーパス: developmental disorder

1 l autism, and other or unspecified pervasive developmental disorders).

2 o be dysregulated in at least one disease or developmental disorder.

3 s challenging, particularly for intellectual developmental disorder.

4 a new strategy for treating this intractable developmental disorder.

5 lead to focal dermal hypoplasia, an X-linked developmental disorder.

6 smorphism syndrome, a maternally transmitted developmental disorder.

7 mental disorder, subthreshold condition, or developmental disorder.

8 elopment within individuals with this common developmental disorder.

9 e LIS1 protein causes lissencephaly, a brain developmental disorder.

10 he previous disease association of RNF135 in developmental disorders.

11 rosencephaly is one of the most common human developmental disorders.

12 associating domains (TADs) can cause severe developmental disorders.

13 road spectrum of neurological phenotypes and developmental disorders.

14 orders Study comprising families with severe developmental disorders.

15 l age and offspring risk for psychiatric and developmental disorders.

16 f the cerebral cortex (MCCs) are devastating developmental disorders.

17 ities and cerebral folate deficiency-related developmental disorders.

18 ers (PBDEs), but few have examined diagnosed developmental disorders.

19 , and KMT5B haploinsufficiency with dominant developmental disorders.

20 and the importance of this process in human developmental disorders.

21 ity could be utilized for early diagnosis of developmental disorders.

22 e frequently encountered in individuals with developmental disorders.

23 sfunction such as that seen in ASD and other developmental disorders.

24 , and high vulnerability to risk factors and developmental disorders.

25 ps with that of several chromatin-remodeling developmental disorders.

26 o-opted or abated to drive human cancers and developmental disorders.

27 oking-associated pregnancy complications and developmental disorders.

28 ditional candidates for dominantly inherited developmental disorders.

29 hematopoietic disease and those resulting in developmental disorders.

30 logues associated with neurodegenerative and developmental disorders.

31 tudying human brain development and modeling developmental disorders.

32 isms, and its dysregulation is implicated in developmental disorders.

33 bers or ciliary proteins cause a spectrum of developmental disorders.

34 riants in GLI2 and GLI3 are found in several developmental disorders.

35 oteins has been implicated in multiple human developmental disorders.

36 chool success and are implicated in numerous developmental disorders.

37 ying enzymes are a common cause of pediatric developmental disorders.

38 order (ASD) and Fragile X syndrome (FXS) are developmental disorders.

39 amily members are associated with cancer and developmental disorders.

40 nction is linked to a variety of cancers and developmental disorders.

41 of this mutational category in children with developmental disorders.

42 ems of diagnosis and trait ascertainment for developmental disorders.

43 ies that potentially lead to infertility and developmental disorders.

44 arge independent cohorts of individuals with developmental disorders.

45 burden of structural mosaicism as a cause of developmental disorders.

46 MAPK cascade, is mutated in human tumors and developmental disorders.

47 and alterations in this process can lead to developmental disorders.

48 ing and in turn new routes to better address developmental disorders.

49 this work further and address its impact on developmental disorders.

50 ential diagnoses for patients with suspected developmental disorders.

51 of cognitive, addictive, mood, anxiety, and developmental disorders.

52 mplicated in multiple human cancers and some developmental disorders.

53 ent and mostly seen among those with serious developmental disorders.

54 completing the map of genes associated with developmental disorders.

55 not previously been robustly associated with developmental disorders.

56 gulatory elements that are involved in human developmental disorders.

57 r understanding the pathobiology of multiple developmental disorders.

58 ression of these receptors may contribute to developmental disorders.

59 ns refines our insight into human cerebellar developmental disorders.

60 further our understanding of early embryonic developmental disorders.

61 ated in human diseases, including cancer and developmental disorders.

62 m (ER) function are implicated in a range of developmental disorders.

63 variants in ClinVar and mutations underlying developmental disorders.

64 coding genes are a well-established cause of developmental disorders(1).

65 ac conduction disease, and a newly described developmental disorder (6p22 syndrome) is located at 6p2

66 s of the corpus callosum were the most often developmental disorders accompanying GMH.

67 However, genes known to be associated with developmental disorders account for only a minority of t

68 Amblyopia is a sensory developmental disorder affecting as many as 4% of childr

69 er, this study reports MAP3K7 mutations in a developmental disorder affecting mainly cartilage, bone,

70 ent dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment o

71 n 700 noncoding mutations from patients with developmental disorders allows correlation to unanticipa

72 including lncRNA genes, cause a lethal lung developmental disorder, alveolar capillary dysplasia wit

73 sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnorma

74 cutively enrolled patients with intellectual developmental disorder and unexplained metabolic phenoty

75 e-scale mosaicism between 1303 children with developmental disorders and 5094 children lacking develo

76 er, with more striking array of prepsychotic developmental disorders and abnormalities in brain devel

77 g abnormalities with respect to prepsychotic developmental disorders and abnormities in the brain dev

78 ported to cause various disorders, including developmental disorders and cancer, in comparison to the

79 Imbalanced Notch signaling leads to developmental disorders and cancer.

80 subset of cells and have been implicated in developmental disorders and cancer.

81 s and could be deregulated in the context of developmental disorders and cancer.

82 d to a host of disease phenotypes, including developmental disorders and cancer.

83 on of apical-basal polarity is implicated in developmental disorders and cancer; however, the mechani

84 They are also implicated in human developmental disorders and cancers(5-8), supporting the

85 those tissues, and widespread connections to developmental disorders and cancers.

86 RAS pathway abnormalities cause developmental disorders and cancers.

87 of ciliary signalling events are coupled to developmental disorders and disease progression.

88 and decreased expression are associated with developmental disorders and diseases in humans.

89 development of novel modulators of HH-driven developmental disorders and diseases.

90 Developmental disorders and environmental factors such a

91 diverse, rare and genetically heterogeneous developmental disorders and identified four new autosoma

92 s, personality disorders, organic disorders, developmental disorders and intellectual disability.

93 ect to constraints that are often relaxed in developmental disorders and malignancies.

94 c abnormalities leads to pathologies such as developmental disorders and malignancies.

95 esult, pathway mutations are associated with developmental disorders and many human cancers.

96 ms, most of the children presented different developmental disorders and neurological symptoms - most

97 hese KMTs are frequently observed in cancer, developmental disorders and other pathologies.

98 berrant expression is associated with severe developmental disorders and polycystic kidney disease.

99 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-d

100 different mammalian mutations contribute to developmental disorders and strengthen the link between

101 xome sequencing on children with undiagnosed developmental disorders and their parents.

102 support the emerging overlap between mosaic developmental disorders and tumorigenesis.

103 oF carriers among 4,281 children with severe developmental disorders and two more carriers in an inde

104 rome characterized by cancer predisposition, developmental disorder, and bone marrow failure.

105 as applied to 4911 patients with undiagnosed developmental disorders, and 11 events among nine patien

106 ity disorders, mental retardation, pervasive developmental disorders, and behavioral and emotional di

107 8 parent-offspring trios of individuals with developmental disorders, and develop a simulation-based

108 tions in DYRK1A underlie a spectrum of human developmental disorders, and increased dosage in trisomy

109 Lethal lung developmental disorders are a rare but important group o

110 As such, many developmental disorders are caused by mutations in genes

111 Childhood learning difficulties and developmental disorders are common, but progress toward

112 l divisions that characterized the pervasive developmental disorders are now collapsed into a single

113 Gap-detection deficits, observed in developmental disorders, are considered evidence for "sl

114 se genes, particularly those associated with developmental disorders, are highly overrepresented amon

115 le X Syndrome (FX) is generally considered a developmental disorder, arising from a mutation that dis

116 r neurotransmission that are linked to neuro-developmental disorders as autism or schizophrenia.

117 mmon concurrent central nervous system (CNS) developmental disorders as well as assessment of charact

118 ted as a potential driving mechanism in both developmental disorders as well as ubiquitous diseases s

119 ristianson syndrome, a debilitating X-linked developmental disorder associated with a range of neurol

120 syndrome is a distinct, autosomal-recessive, developmental disorder associated with dysfunction of th

121 abuki syndrome (KS) is a complex multisystem developmental disorder associated with mutation of genes

122 erebellar Hypoplasia Type 3 is a devastating developmental disorder associated with severe developmen

123 te area of Northern Pakistan, with a complex developmental disorder associated with wide-ranging symp

124 powerful medium for probing the etiology of developmental disorders associated with 16p11.2 CNVs.

125 hyperactivity disorder (ADHD) is a prevalent developmental disorder, associated with a range of long-

126 e maternal chromosome is associated with the developmental disorder Beckwith Wiedemann Syndrome (BWS)

127 omeostasis, and its perturbation can lead to developmental disorders, birth defects, and cancers.

128 Humeral Dystrophy (FSHD) and in an unrelated developmental disorder, Bosma Arhinia Microphthalmia Syn

129 ities for the study of early development and developmental disorders, but it may also raise substanti

130 TYK were implicated in congenital urological developmental disorders, but our study identifies differ

131 al nutritional supplementation can alleviate developmental disorders by inadvertently establishing la

132 components of the Ras/MAPK pathway result in developmental disorders called RASopathies, affecting ab

133 tly dysregulated in cancer and in a group of developmental disorders called Rasopathies.

134 logy and their production is dysregulated by developmental disorders, cancer, and virus infection.

135 After screening developmental disorder cases from three independent dise

136 from patients with Costello syndrome (CS), a developmental disorder caused by abnormal Ras signaling

137 Oculofaciocardiodental (OFCD) syndrome is a developmental disorder caused by heterozygous mutations

138 FCDs are a heterogeneous group of developmental disorders caused by germline or somatic mu

139 Alagille syndrome (ALGS) is a multisystem developmental disorder characterized by bile duct (BD) p

140 CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular

141 Noonan syndrome (NS) is a multisystemic developmental disorder characterized by common, clinical

142 Renal dysplasia, a developmental disorder characterized by defective ureter

143 Autism spectrum disorder is a developmental disorder characterized by deficits in soci

144 omelic chondrodysplasia punctata (RCDP) is a developmental disorder characterized by hypotonia, catar

145 odeling gene, cause Coffin-Siris syndrome, a developmental disorder characterized by intellectual dis

146 le-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual dis

147 Cornelia de Lange syndrome (CdLS) is a developmental disorder characterized by limb reduction d

148 Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence of

149 plasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth

150 be significantly elevated in the deciphering developmental disorders cohort.

151 ons that affect this complex cause the human developmental disorder Cornelia de Lange syndrome (CdLS)

152 NippedBL/Mau2), mutations in which cause the developmental disorder Cornelia de Lange syndrome in hum

153 ntinued interrogation of oncogenes in benign developmental disorders could provide insight into funda

154 esis of the Noonan-like syndrome and related developmental disorders, cumulatively called RASopathies

155 ive Compulsive Scale, modified for pervasive developmental disorder (CYBOCS-PDD) were recruited from

156 tributed to RT, but the role of RT in severe developmental disorders (DD) has not yet been explored.

157 cale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Cli

158 The Deciphering Developmental Disorders (DDD) study has developed a UK-w

159 sed individuals recruited to the Deciphering Developmental Disorders (DDD) study.

160 xome sequencing data from 7833 probands with developmental disorders (DDs) and their unaffected paren

161 from cultured cells of nine individuals with developmental disorders (DDs).

162 nset diabetes of the young (MODY) and severe developmental disorders (DDs).

163 Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral features th

164 modeling brain and other organ development, developmental disorders, developmental pharmacology and

165 We propose that for more precise lethal lung developmental disorder diagnosis, a diagnostic pathway i

166 The Deciphering the Mechanisms of Developmental Disorders (DMDD) consortium is a research

167 in DYRK1A account for nearly 0.5% of severe developmental disorders due to substantially reduced kin

168 linked to human disease, including a severe developmental disorder encompassing brain and skeletal a

169 ause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological

170 Autism is a developmental disorder evident from infancy.

171 ell known to drive human diseases, including developmental disorders, few studies have revealed a rol

172 of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progres

173 The developmental disorder Floating-Harbor syndrome (FHS) is

174 ,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosai

175 and control whole exome sequence (WES) with Developmental Disorders G2P (G2P(DD); 2044 entries).

176 evaluate the presence of genetic variants in developmental disorder genes (diagnostic genetic variant

177 on de novo and segregating variants in known developmental disorder genes, we achieved a diagnostic y

178 tive de novo mutations (DNM) in 28 different developmental disorder genes.

179 ted with a high frequency of psychiatric and developmental disorders (>90%).

180 igenetic clock in patients with a variety of developmental disorders, harboring mutations in proteins

181 nt causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome

182 tion of genetic variants implicated in human developmental disorders has been revolutionized by secon

183 histopathological continuum in these lethal developmental disorders has made accurate diagnosis chal

184 est that the boundaries around the pervasive developmental disorders have not been substantially alte

185 s that more than 1,000 genes associated with developmental disorders have not yet been described, man

186 We investigated its involvement in a developmental disorder, human focal cortical dysplasia (

187 es of trios with intellectual disability and developmental disorders (ID/DD) and successfully identif

188 e term intellectual disability (intellectual developmental disorder, IDD) in DSM-5 represents a shift

189 Finally, evidence in patient cohorts with developmental disorders implicates germline RABL3 mutati

190 Dyslexia is a developmental disorder in reading that exhibits varied p

191 enriched in genes previously associated with developmental disorders in affected children.

192 ion of an important biomarker of chronic and developmental disorders in children as driven by the env

193 ar disorder-to show that it is applicable to developmental disorders in general.

194 nction for NDE1, whose mutations cause brain developmental disorders, in safeguarding the genome thro

195 ing pathologies other than cancer, including developmental disorders, in which improper primary cilio

196 ate behavior compromised in multiple genetic developmental disorders including DiGeorge/22q11.2 Delet

197 enes that were significantly associated with developmental disorders, including 28 that had not previ

198 Mutation of this gene causes multiple developmental disorders, including CHARGE (Coloboma of t

199 and duplications, have been associated with developmental disorders, including schizophrenia, autism

200 Ocular developmental disorders, including the group classified

201 of DNA methylation at genes associated with developmental disorders, including those affecting the c

202 te deficiency impairs this cycle, leading to developmental disorders, including those of the nervous

203 egulation of TANK-binding kinase 1 (TBK1) to developmental disorders, inflammatory disease, and cance

204 s study demonstrates RBM20 familial DCM is a developmental disorder initiated by molecular defects th

205 romosome instability but are also a cause of developmental disorders involving defective asymmetric c

206 isorders under study, for example, pervasive developmental disorders (IRR, 9.45; 95% CI, 5.64-14.69)

207 Delineating the genetic causes of developmental disorders is an area of active investigati

208 with TRIO and HACE1, a sub-category of rare developmental disorders is emerging with RAC1 as the cen

209 cancer, but the role of adaptive changes in developmental disorders is less well understood.

210 osphate-5-phosphatase that is mutated in the developmental disorders Joubert and MORM syndromes, is e

211 Down syndrome (DS) or Trisomy 21 is a developmental disorder leading to cognitive deficits, in

212 SPRED1 occur in human cancers and cause the developmental disorder, Legius syndrome.

213 different types of human diseases, including developmental disorders, leukemia, and solid tumors.

214 ncorporates an increased risk for cerebellar developmental disorders likely contributing to motor and

215 brofaciothoracic (CFT) dysplasia spectrum, a developmental disorder linked to TMCO1 dysfunction, and

216 oss of Reelin function results in the severe developmental disorder lissencephaly and is associated w

217 lpuech, and Michels (3MC) syndrome, a severe developmental disorder manifested by cleft palate, intel

218 ed in cancer, whereas mutations in p63 cause developmental disorders manifested in ectodermal dysplas

219 between atypical language lateralization and developmental disorders may benefit if we reconceptualiz

220 surface (E326K) causes the hereditary neuro-developmental disorder, MCSZ.

221 hough we detected more genes associated with developmental disorders, much of the excess of de novo m

222 nd that CHD7 directly interacts with several developmental disorder-mutated proteins including WDR5,

223 (AD), 1873 from 1564 subjects with pervasive developmental disorder not otherwise specified (PDD-NOS)

224 ism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128)

225 ood autism, Asperger syndrome, and pervasive developmental disorders not otherwise specified.

226 ic disorder, Asperger syndrome, or pervasive developmental disorder, not otherwise specified; had ill

227 s disease, or congenital aganglionosis, is a developmental disorder of the enteric nervous system and

228 mature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in

229 he sensitive period can lead to amblyopia, a developmental disorder of vision affecting approximately

230 portant implications for the pathogenesis of developmental disorders of cognition.

231 Developmental disorders of language include developmenta

232 of mental illnesses can be conceptualized as developmental disorders of neural interactions within th

233 ovide insight into processes responsible for developmental disorders of the auditory system.

234 Increased understanding of developmental disorders of the brain has shown that gene

235 Gray matter heterotopia occurred with other developmental disorders of the central nervous system ra

236 r heterotopia occurred more often with other developmental disorders of the central nervous system ra

237 ical continuum observed in these rare lethal developmental disorders of the lung.

238 ng longevity of patients with congenital and developmental disorders of the nervous system reflects t

239 directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis.

240 rts for improving outcomes for children with developmental disorders or lower-functioning autism spec

241 a potential avenue to direct neurogenesis in developmental disorders or regenerative settings without

242 racteristic of de novo CNVs in patients with developmental disorders (P = 1 x 10(-3)).

243 tistic disorder or other specified pervasive developmental disorder (PDD) including Asperger syndrome

244 diagnosis of pervasive developmental disorder (PDD) or autistic disorder (AD) a

245 on of diverse human pathologies that include developmental disorders, premature aging, infertility an

246 e H1.4, which has not been associated with a developmental disorder previously.

247 The Deciphering the Mechanisms of Developmental Disorders programme has analysed the morph

248 he method on 1057 trios from the Deciphering Developmental Disorders project, a trio-based rare disea

249 Cardiac developmental disorders represent the most common of hum

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 lesterol production leads to the devastating developmental disorder, Smith-Lemli-Opitz syndrome.

255 nse mutations, identified by the Deciphering Developmental Disorder study.

256 ere identified from the UK-based Deciphering Developmental Disorders study and one from the Northern

257 parent-offspring trios from the Deciphering Developmental Disorders Study comprising families with s

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

260 viduals with GS recruited to the Deciphering Developmental Disorders study.

261 pinpoints co-enriched genes as new causes of developmental disorders such as cleft palate and congeni

262 BG dysfunction in several developmental disorders suggests the importance of the h

263 ciated with, or are candidates for, dominant developmental disorders tend to have a higher level of t

264 Rett syndrome (RTT) is a developmental disorder that can lead to respiratory dist

265 Tourette's syndrome (TS) is a developmental disorder that has one of the highest famil

266 lude that missense mutations in CDK8 cause a developmental disorder that has phenotypic similarity to

267 w paradigm of familial DCM pathogenesis as a developmental disorder that is patterned during early ca

268 ting the behavioral effects of PCE and other developmental disorders that are generated through abnor

269 reted with a targeted virtual gene panel for developmental disorders that comprised 1628 genes.

270 Further, several psychiatric and developmental disorders that disrupt cognition are also

271 of FGFR3 are responsible for a collection of developmental disorders that feature poor endochondral b

272 over development, and may lend insight into developmental disorders that involve BG dysfunction, par

273 Orofacial clefts are common developmental disorders that pose significant clinical,

274 of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrom

275 a urogenital condition among persons with a developmental disorder to 54.1% for a circulatory disord

276 trum disorder and intellectual disability or developmental disorders to show that pLoF variants in we

277 ntosum (XP) and the cancer-free, multisystem developmental disorder trichothiodystrophy (TTD).

278 hen aberrantly regulated, is associated with developmental disorders, tumorigenesis, and cancer.

279 ng-term observations of individuals with the developmental disorder undergoing continual oxytocin adm

280 opmental disorders and 5094 children lacking developmental disorders, using an analytical pipeline we

281 ex are mutated in the human neurological and developmental disorder Warburg Micro syndrome.

282 stigated whether a genetic predisposition to developmental disorders was associated with nonoptimal n

283 Since schizophrenia is a developmental disorder, we examined the effects that per

284 previously undescribed genes associated with developmental disorders, we integrate healthcare and res

285 Anxiety and developmental disorders were also prevalent.

286 entifiable variants in genes associated with developmental disorders when assessed with whole-exome s

287 Early somatic mutations can cause developmental disorders, whereas the progressive accumul

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 ls had a diagnosis of Down syndrome or other developmental disorder, while 84 (52.5%) individuals had

292 y investigated yet undiagnosed children with developmental disorders, whilst minimising incidental fi

293 upregulation causes Noonan syndrome (NS), a developmental disorder whose major features include a di

294 Autism spectrum disorder (ASD) is a developmental disorder with increasing prevalence worldw

295 essing severe congenital or very early-onset developmental disorders with high penetrance.

296 rome and IMAGe syndrome in humans, which are developmental disorders with increased incidents of pala

297 e oncogenesis in several leukemias and cause developmental disorders with increased risk of malignanc

298 tivating mutations in PTPN11 result in human developmental disorders with overlapping clinical manife

299 D13L were previously identified in syndromic developmental disorders with overlapping phenotypes.

300 nically meaningful brain-based biomarkers of developmental disorders within reach.