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1 entification and study of inherited forms of early-onset AD and genetic risk factors that provide ins
2 t the beta-secretase cleavage site linked to early-onset AD found in a Swedish pedigree enhances Abet
3 most familial mutations are associated with early-onset AD, recent studies report the AD-protective
5 viously unreported syndrome characterized by early-onset AF (age <35 years), conduction disease and s
10 ils and a focal point of mutations linked to early onset Alzheimer's disease, is not detectable in th
11 Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for onl
13 t with the finding that Abeta42-A2V leads to early-onset Alzheimer's disease and enhances neurotoxici
15 auses a familial form of PD characterized by early onset and a generally severe phenotype, including
19 ed neuronal circuits, thereby pointing to an early onset and rapid impact of left hemispheric reentra
20 isease lag behind those in adults; given the early onset and therefore potential lifelong effect of m
23 y is associated with protection against both early-onset and late-onset group B streptococcus disease
25 he mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or mor
26 than the decline in asthma-COPD overlap with early-onset asthma (p=0.0001), the decline of 39.5 mL (2
27 decline in FEV1 in asthma-COPD overlap with early-onset asthma was 27.3 mL (standard error 5.0) per
28 n participants with asthma-COPD overlap with early-onset asthma, 12.8 years (11.1-14.6) shorter in th
29 with COPD, 68 with asthma-COPD overlap with early-onset asthma, and 202 with asthma-COPD overlap wit
30 c aberration in 4 related patients with CID, early-onset asthma, eczema, and food allergies, as well
31 ogressive neurological phenotypes, featuring early-onset ataxia and absence seizure without significa
33 ree in 222 infants in Northern Europe, where early-onset autoimmune diseases are common in Finland an
35 ve linked activating mutations in STAT3 with early-onset autoimmune disorders that include diabetes o
36 o consanguineous parents and with additional early-onset autoimmunity had recessive LRBA mutations.
39 tions, including DRPLA and Vici syndrome, an early-onset autolysosomal pathology, leads to the activa
41 l dementia face unique challenges due to its early onset, behavioral symptoms, and slow progression o
43 n SNAP25, rs6039769, that is associated with early-onset bipolar disorder and a higher gene expressio
44 synaptic mechanism both in schizophrenia and early-onset bipolar disorder and confirm the shared gene
45 efore may increase the vulnerability to both early-onset bipolar disorder and schizophrenia.SIGNIFICA
46 9650 individuals with BPD (5167 thereof with early-onset BPD), and 21,363 typically developing contro
47 of 283 genes was performed in 240 women with early-onset breast cancer (</=40 years) or a family hist
48 sessed mutations in patients presenting with early-onset breast cancer, triple-negative breast cancer
49 , Nphp1, Nphp4 and Nphp5, exhibit relatively early onset (by 3 months of age) retinal degeneration an
52 a-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight indepen
54 ls exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability
56 l was conducted among adult outpatients with early-onset chronic depression who were not taking antid
57 than nonspecific therapy in outpatients with early-onset chronic depression who were not taking antid
58 entified the p.R252W mutation in 2 unrelated early onset CMT2 families and a second mutation p.E236G
59 Here, we demonstrate that Lcn2 protects from early-onset colitis and spontaneous emergence of right-s
60 se conditions among unselected patients with early-onset colorectal cancer (CRC) is largely undetermi
61 onally presented with a phenotype resembling early-onset common variable immunodeficiency, while extr
62 RPS20 were detected in a Finnish family with early-onset CRC (p.Val50SerfsTer23), a 39-year old indiv
69 with other patient characteristics, such as early onset, cuticular drusen on fluorescein angiography
73 ful for addressing severe congenital or very early-onset developmental disorders with high penetrance
74 Here, we identify two SNPs associated with early-onset DFS, rs715212 (P meta = 3.54 x 10(-5)) and r
76 We describe a new syndrome characterized by early-onset diabetes associated with bone marrow failure
79 h Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inherita
80 SCO1 patients present with severe forms of early onset disease, and ultimately succumb from liver,
82 nd disease outcomes have not been studied in early-onset disease (EOD, </=7 days) or compared to late
83 inty range [UR], 101000-327000) infants with early-onset disease and 114000 (UR, 44000-326000) with l
84 ciated with FPIES to multiple foods included early-onset disease and FPIES to fruits, vegetables, or
85 o were LRRK2 Gly2019Ser carriers (seven with early-onset disease and seven elderly unaffected individ
91 from a single multi-generational family with early onset diverticulitis in order to identify a geneti
92 ren with Canavan disease, neuroimaging shows early-onset dysmyelination and progressive brain atrophy
94 r LMP1 or LMP2A may be sufficient to promote early-onset EBV-induced tumors in this model.IMPORTANCE
97 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufm
98 ariants in YWHAG, establishing their role in early-onset epilepsy, and we provide additional support
99 ividuals with a similar phenotype, including early-onset epilepsy, severe intellectual disability, po
100 We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppre
102 it gene (GABRB3) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound
106 high-coverage exome sequencing data on 1,006 early-onset familial CRC cases and 1,609 healthy control
108 ngs displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with live
110 ancy or improve pregnancy outcomes in severe early-onset fetal growth restriction and therefore it sh
112 nd 29 weeks and 6 days' gestation and severe early-onset fetal growth restriction to receive either s
118 Several rare mutations in TREM2 cause an early-onset form of neurodegeneration when inherited hom
119 ,104 controls), a rare but highly severe and early-onset form of periodontitis, validated the associa
122 in three unrelated subjects presenting with early-onset generalized hypotonia, psychomotor delay, re
123 e therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular
128 roup had similar parietal involvement to the early-onset group with localised volume loss in the thal
129 extensive temporoparietal involvement in the early-onset group, and more focal medial temporal lobe l
130 cts with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous
134 cle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific
135 analysis of DNA from 150 patients with very-early-onset IBD not associated with known genetic factor
137 the current mainstay of prevention, reducing early-onset infant disease in high-income contexts.
140 O2 in the intestine has been associated with early-onset inflammatory bowel disease and colon cancer.
141 ammatory bowel disease, treatment effects in early-onset inflammatory bowel disease are less certain.
143 usal variants; 50 genes associated with very-early-onset inflammatory disease have been identified.
145 isorder of connective tissue, manifesting as early-onset joint hypermobility, joint contractures, mus
146 were identified (early-onset-persistent and early-onset-late-resolving); these were most strongly as
147 clein, which shows robust neurodegeneration, early-onset locomotor deficits, and abundant alpha-synuc
148 chain reaction, we confirmed this finding in early-onset (<34 gestational week, n=26) and late-onset
149 t that LMP1 and LMP2A collaborate to promote early-onset lymphomas in this model, but neither protein
153 cluster of five mutations with particularly early onset (mean age at onset <40 years) involving PSEN
154 ause mortality associated with premature and early-onset menopause could be an important factor affec
157 clusters as: "Difficult asthma" (n = 132); "Early-onset mild atopic" (n = 210); "Early-onset mild no
158 a was a significant feature of "Difficult," "Early-onset mild atopic," and "Late-onset asthma." Child
159 132); "Early-onset mild atopic" (n = 210); "Early-onset mild non-atopic: (n = 153); "Late-onset" (n
160 mutation of this gene and demonstrates that early-onset mitochondrial disease can be caused by recur
161 evated rGMP incorporation is associated with early-onset mtDNA depletion in liver and late-onset mult
162 tations as inborn de novo mutations cause an early onset multisystem disorder with failure to thrive,
163 ents, respiratory dysfunction was part of an early-onset multisystemic neuromuscular phenotype with m
165 (rs11206510), which has been identified for early onset myocardial infarction (MI), modified the ass
167 e case-control cohorts for the evaluation of early-onset myocardial infarction, participants with CHI
169 and recessive mutations in humans result in early-onset myopathy, areflexia, respiratory distress, a
170 -dependent achlorhydria is a major factor in early-onset NAFLD in Kcne2( horizontal line / horizontal
171 -exon boundaries either in 142 patients with early-onset NAFLD nor in 100 healthy individuals with al
174 h incidence of GBS-associated stillbirth and early onset neonatal disease (EOD) in hospital (0.91 (0.
175 osed neonates were not at increased risk for early-onset neonatal disease, but were 4.43 times more l
176 and delivery has decreased the incidence of early-onset neonatal infection, these measures do not pr
177 tive organisms were the predominant cause of early-onset neonatal sepsis, with a high prevalence of e
178 our of the six affected individuals also had early-onset nephropathy with features of tubulo-intersti
179 disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly w
180 years), as well as 9 individuals affected by early-onset neurodegeneration due to genetic disorders o
182 ster 1 was composed of younger patients with early-onset nonsevere asthma and reversible airflow obst
183 a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide
185 levels and pleiotropic phenotypes, including early-onset obesity, growth defects, and metabolic dysre
186 ding proopiomelanocortin (POMC) have extreme early-onset obesity, hyperphagia, hypopigmentation, and
193 tation was found to be a risk factor for the early onset of cardiac conduction disturbance and the oc
194 is an important technology for detecting the early onset of cardiovascular disease and assessing pers
195 study, transcriptomic analyses revealed the early onset of cholecystitis in Sox17(+/-) embryos, toge
197 , obstructions in the peripheral airways and early onset of lung stiffening are often difficult to de
201 sory tracts and dental problems (hypodontia, early onset of severe and aggressive periodontal disease
204 -R258C, a recurrent mutation associated with early onset of TAAD and occlusive moyamoya-like cerebrov
205 -SYN encoding gene (SNCA) is correlated with early onset of the disease underlining the significance
207 t low dose and a tumor-inducing level led to early onset of vaginal opening and to obesity in female
209 e neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which c
210 ociations of heterozygous LoF mutations with early-onset or triple-negative BC, FANCM should be inclu
211 WNT1 cause osteogenesis imperfecta (OI) and early-onset osteoporosis, identifying it as a key Wnt li
213 p.Arg222His, was identified in patients with early-onset pain in distal extremities including joints
215 ted induced Pluripotent Stem Cell lines from early onset Parkinson's Disease patients with SNCA A53T
216 loss of function mutations of PINK1 lead to early onset Parkinson's disease, there has been growing
218 e sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity fol
219 tions are associated with a distinct form of early-onset parkinsonism characterized by rapid and seve
222 ATP13A2, which is mutated in some types of early-onset Parkinsonism, has been suggested as a regula
223 d double-blind, placebo controlled trial, 22 early onset PD patients, were administered deferiprone,
224 sorder symptoms compared to patients without early onset PD psychosis but no differences in cognitive
225 arkin is associated with autosomal recessive early-onset PD, and controls the transcription of PGC-1a
226 e polyadenylation signatures associated with early-onset PE (EO-PE; symptom onset < 34 weeks) and lat
227 ts: 14 with uncomplicated pregnancy; 13 with early-onset PE (eoPE); and 11 with late-onset PE (loPE).
228 autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of t
232 asses of persistent disease were identified (early-onset-persistent and early-onset-late-resolving);
233 of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset
235 atic decrease in Tafel slope of over 20% and early onset potential of 1.344 V vs. reversible hydrogen
236 lar remodeling are most marked in severe and early-onset preeclampsia, but are also markers of preecl
239 l degradation programs: a maternally encoded early-onset program and a late-onset program that accele
240 that heterozygous Gfi1(Cre) mice exhibit an early onset progressive hearing loss as compared with th
241 ion (stonedeaf, stdf ) leading to recessive, early-onset progressive hearing loss was detected and ex
243 ramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease.
244 s with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary inte
245 ted with glomerular disease characterised by early onset proteinuria and ultrastructural thickening a
246 vides novel information for the treatment of early-onset psychosis and highlights the importance of a
247 ison of quetiapine-ER versus aripiprazole in early-onset psychosis showed no significant group differ
251 ic mutations in ARSs typically cause severe, early-onset, recessive diseases that affect a wide range
252 se findings, we securely implicate PPP3CA in early-onset refractory epilepsy and further support the
253 mor types, as </= 10% of pheochromocytoma or early-onset renal cell carcinoma and </= 40% of CNS hema
254 y the molecular cause of autosomal recessive early onset retinal degeneration in a consanguineous ped
256 d individuals from 4 unrelated families with early-onset retinal dystrophy as a primary manifestation
257 itreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct
262 brain ganglioside biosynthesis, result in an early-onset seizure disorder with profound motor and cog
263 motor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ).
264 with global developmental delay, hypotonia, early-onset seizures, cerebellar atrophy, and osteopenia
265 me is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor develop
266 ssive neurological disorder characterized by early-onset sensorineural deafness and brain anomalies.
268 urrent algorithms for management of neonatal early-onset sepsis (EOS) result in medical intervention
269 Among the remaining 8824 infants without early-onset sepsis, late-onset sepsis, or NEC, a 10% inc
270 monosomy 7, whereas MECOM patients presented early-onset severe aplastic anemia, and ERCC6L2 patients
271 creening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neur
278 ology by highlighting patients with probable early-onset T1D (GRS >50th T1D centile) who were diagnos
279 ean (SD) ages were 33.5 (7.5) for those with early-onset T2DM and 50.6 (6.5) with late onset T2DM.
283 ing glycemic control in select patients with early-onset T2DM than in those with late-onset T2DM.
289 ere neurological condition that mimicked the early-onset twisting, stiff limbs and tremor that is obs
292 er adjustment for age and sex, patients with early-onset type 2 diabetes had higher risk of non-fatal
295 essive condition characterized by severe and early-onset vascular disease similar to FMD and variable
296 ar complications, we investigated effects of early-onset versus late-onset type 2 diabetes on risk of
300 estricting the analyses to BPD cases with an early onset yielded one genome-wide significant associat
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