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2 irst missense mutation causing isolated, non-syndromic 46,XX testicular/ovotesticular DSD in humans.
4 Despite etiological heterogeneity, >/=68% of syndromic and idiopathic ASD cases shared a common acety
5 that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans and provide
6 ) and connexin 30 (Cx30) have been linked to syndromic and non-syndromic hearing loss in mice and hum
7 cilia formation and is frequently mutated in syndromic and non-syndromic photoreceptor degeneration.
8 search reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we
9 n of retinal disease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be as
10 threatening condition that can occur in both syndromic and nonsyndromic congenital heart disease.
11 ry factor 6 ( IRF6) are associated with both syndromic and nonsyndromic forms of cleft lip/palate (CL
13 A (Group 2) that differed from the classical syndromic and nonsyndromic groups and that was defined b
14 ) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and huma
15 and vascular tumors, including samples from syndromic and nonsyndromic subjects, and these levels co
18 CENT FINDINGS: Over the review period, three syndromic and six nonsyndromic deafness genes have been
19 roup of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in
21 ologic factor(s): (1) treatment-related, (2) syndromic, and (3) those due to shared etiologic exposur
23 enology and classification of dystonia and a syndromic approach to guide diagnosis have been proposed
24 ical aspects such as the new classification, syndromic approach, new gene discoveries and genotype-ph
25 CNV's) were overrepresented in children with syndromic ASD and if mGluR "second hit" confers addition
26 use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling g
27 us, in this small trial of children with non-syndromic ASD and language impairment, treatment with hi
31 gether, these results implicate GLRA2 in non-syndromic ASD, unveil a novel role for GLRA2 in synaptic
32 whether mGluR network CNV'S are enriched in syndromic ASD, we examined microarrays from children wit
36 NA- and mRNA-binding proteins, including the syndromic autism protein FMRP, move in basal processes a
37 es verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language im
40 nes and copy number variants associated with syndromic autism, little is known to date about the etio
43 ing-impaired members of Family 1070 with non-syndromic autosomal dominant hearing loss (DFNA4) who ca
44 entified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated wit
45 tations contribute to both syndromic and non-syndromic AVSDs in humans and provide a model that predi
46 x individuals diagnosed with nonsyndromic or syndromic bilateral congenital cataract were selected fo
47 t frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaurosis
50 ndromes that may include CAKUT as a feature (syndromic CAKUT) or cause renal diseases that may manife
51 obtained from infants who met a standardized syndromic case definition and tested for Bordetella pert
52 mic disease to find genes accounting for non-syndromic cases may prove broadly relevant to understand
55 sment of all other prespecified outcomes and syndromic categories did not reveal that PsA-TT was cons
57 ssociated neuropathy with one of three major syndromic categories: (1) ataxia, (2) spasticity and (3)
59 ome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-
63 es originally reported to be associated with syndromic ciliopathies should also be considered in subj
65 isease mechanism of reduced expression for a syndromic ciliopathy gene causing isolated retinal degen
66 e CETN2 knock-out (KO) mouse presenting with syndromic ciliopathy including dysosmia and hydrocephalu
67 We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence variants
68 s been associated with increased risk of non-syndromic CL/P in humans, but the genes and pathways inv
70 Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P),
71 , a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/
72 MP and TIMP genes as candidate genes for non-syndromic cleft lip with or without cleft palate (NSCL/P
77 dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disea
80 be present in a nonsyndromic condition or in syndromic conditions such as Williams-Beuren syndrome.
81 eta-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles
82 henotypes of affected individuals range from syndromic coronal craniosynostosis to severe growth rest
88 w articulations that are associated with non-syndromic craniosynostosis conditions have statistically
91 fants <6 months of age who fulfilled a broad syndromic criteria of respiratory illness were tested fo
92 determine the genetic cause for non-GC-C non-syndromic CSD in 18 patients from 16 unrelated families
95 tations in Tecta cause dominant forms of non-syndromic deafness and a genotype-phenotype correlation
96 s protein complexes affected in two forms of syndromic deafness and suggests a molecular function for
98 tations produce a gain of function and cause syndromic deafness associated with skin disorders, such
102 a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a homozyg
104 .2 region and is responsible for most of the syndromic defects, exhibit inner ear defects and hyperac
106 ted between genes implicated in monogenic or syndromic diabetes and genes lying within genomic region
107 er-represented among both known monogenic or syndromic diabetes genes and genes within T2D-associated
109 cellular, and systemic events that lead to a syndromic diagnosis for a neurodegenerative disease.
112 ally, the use of pathways identified in rare syndromic disease to find genes accounting for non-syndr
117 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and geni
121 th making and confirming a diagnosis in rare syndromic disorders have become even more possible.
122 lso been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Jo
125 ifferent MMP20 mutations in humans cause non-syndromic enamel malformations, termed amelogenesis impe
127 A frame-shift mutation that causes a form of syndromic epilepsy (CASPR2-1253*), results in a secreted
128 a, and coloboma disease without a recognized syndromic etiology who attended the Westmead Children's
130 is of microcephaly in AS, a highly penetrant syndromic feature with early postnatal onset, we would g
131 with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous parents, sugge
132 acute aortic dissections but who do not have syndromic features have a family history of thoracic aor
135 ian inherited CTNNB1 mutations can cause non-syndromic FEVR and that FEVR can be a part of the syndro
136 probands shows that some of them have subtle syndromic findings, while none of them meets clinical cr
137 e conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental def
140 we recently described four cases of the non-syndromic form of CSD that were caused by dominant activ
141 These data support a genetic basis for a syndromic form of ectopia lentis and the role of asparty
142 h Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodact
145 ons in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease.
148 Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive
149 CNVs have been distinguished, including the syndromic forms in which the phenotypic features are rel
152 entially expressed in patients with distinct syndromic forms of ASD, fragile X syndrome, and 15q dupl
156 ticity (PSDSP) are a hallmark of a number of syndromic forms of autism; in the present work, we explo
160 y of 55 multiplex families with apparent non-syndromic forms of oral clefts from four distinct popula
161 clude classic Aicardi-Goutieres syndrome and syndromic forms of systemic lupus erythematosus, includi
162 tis-determining gene, SRY Other rare complex syndromic forms of TDSD/OTDSD are associated with mutati
163 e, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of
164 pathies that occur in both non-syndromic and syndromic forms, is caused by mutations in approximately
166 phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive a
168 xpression in 48% and 90% of sporadic and NF1-syndromic GISTs, respectively, and in three of eight mic
169 mutations in 17% and 50% of sporadic and NF1-syndromic GISTs, respectively, and we find loss of MAX p
170 y congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years
171 Previously, a novel autosomal recessive non-syndromic hearing impairment locus DFNB44 was mapped to
172 The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high
179 hancers in which mutations could lead to non-syndromic hearing loss, craniofacial defects or limb mal
180 s lead to early-onset autosomal dominant non-syndromic hearing loss, familial thoracic aortic aneurys
182 the first time that AMTN mutations cause non-syndromic human AI and explores the human phenotype, com
183 the first time that AMBN mutations cause non-syndromic human AI and that mouse models with disrupted
184 n the Beethoven mouse, a murine model of non-syndromic human deafness caused by a dominant gain-of-fu
186 f coding and conserved noncoding variants in syndromic hypertension genes on systolic blood pressure
188 omic FEVR and that FEVR can be a part of the syndromic ID phenotype, further establishing the role th
189 fected by an autosomal-dominant form of mild syndromic ID with ptosis, growth retardation, and hypoto
190 ions in the last and penultimate exons cause syndromic ID, which provides additional insight into the
192 ry (SCI) data sets mined from the Visualized Syndromic Information and Outcomes for Neurotrauma-SCI (
193 ygous de novo CTNNB1 mutations as a cause of syndromic intellectual disability (ID) and autism spectr
195 sufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be
197 a surprisingly common form of sporadic, non-syndromic intellectual disability with autism in humans,
198 ve been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia.
199 Besides providing additional evidence of a syndromic IPMN as a feature of McCune-Albright syndrome,
200 ted children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic tes
203 dup and p.Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood
204 isorders has potential to extract meaningful syndromic knowledge from large, heterogeneous data sets
211 ed a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous
213 d cytokinesis in the etiology of primary and syndromic microcephaly, as has been proposed by recent f
214 dentify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosi
215 from non-syndromic genetic entities, to rare syndromic multisystem diseases with optic atrophy such a
216 y, heteromeric oligomer formed by Cx43/Cx26 (syndromic mutants) shows exacerbated hemichannel activit
220 rge multigenerational family segregating non-syndromic MVP underwent capture sequencing of the linked
221 h extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date
223 omes, TDA detected novel patterns across the syndromic network, uncovering interactions between SCI a
224 athogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anomalies and extend the cl
225 ange threshold of 0.5, genes associated with syndromic neurodevelopmental disorders (N=31 genes, p=3.
226 ichment of putative susceptibility genes for syndromic neurodevelopmental disorders, intellectual dis
227 anslation protein-targeting pathway, lead to syndromic neutropenia with a Shwachman-Diamond-like phen
230 had either Kallmann syndrome or isolated or syndromic ocular and/or facial dysmotility disorders, bu
231 enes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively.
232 cohort of 145 unrelated individuals with non-syndromic oligodontia, we identified three additional mu
233 A1 modifier, which explains the emergence of syndromic 'optic atrophy plus' phenotypes in several fam
235 N, N54K, M163V, and S183F) linked to various syndromic or nonsyndromic diseases to uncover the molecu
236 n of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of Europ
237 LP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most c
238 of this article is to critically discuss the syndromic overlap that exists between early behavioural
239 d these enhancer elements in a cohort of non-syndromic patients with isolated atrial and/or ventricul
240 plitudes that were significantly higher than syndromic patients, suggesting superior residual cone fu
241 been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations.
242 mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparen
243 he 5' end of whirlin are associated with the syndromic phenotype associated with USH2D, the identific
245 r SCRIB and the splicing factor PUF60 to the syndromic phenotype, and the combinatorial suppression o
246 ions in USH2A was associated mostly with the syndromic phenotype, whereas other combinations were pre
248 sequencing studies have thus far focused on syndromic phenotypes characterized by low locus heteroge
250 e sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, l
252 ntile) who were diagnosed later and had less syndromic presentation but additional autoimmune feature
253 g has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Ma
258 members were diagnosed with early onset non-syndromic progressive retinal degeneration and the prese
260 cases: positive intradermal tests (n = 4), a syndromic reaction during skin tests (n = 1), and one ca
261 n-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family
262 essionals with interim recommendations about syndromic recognition and initial treatment based on bot
263 tions in genes traditionally associated with syndromic retinal disease are increasingly found to caus
265 which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent finding
267 equencing in an individual affected with non-syndromic RP revealed two plausibly disease-causing vari
268 sis to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts,
276 Our findings demonstrate that participatory syndromic surveillance data can be used to gauge influen
278 12; mosquito trap results; weather data; and syndromic surveillance from area emergency departments.
280 Influenzanet, a participatory system for the syndromic surveillance of influenza-like illness (ILI) i
283 Our objective was to study the ability of a syndromic surveillance system to identify spatio-tempora
284 ides, our approach should be used to develop syndromic surveillance systems for other diseases and pu
285 The method has been applied successfully to syndromic surveillance systems in England providing real
286 out-of-hours, and emergency department (ED) syndromic surveillance systems were used to monitor GP c
289 ubstantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating genetic
292 celerated discovery of genes associated with syndromic traits, the majority of families affected by s
293 large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL
294 sly reported severe visual phenotype seen in syndromic USH2A patients could relate to a greater exten
295 posterior cortical regions involved in both syndromic variants and modulated by the syndromic profil
296 sis inferential framework to jointly analyze syndromic, virological, and serological surveillance dat
299 function mutations in PAK3 contribute to non-syndromic X-linked intellectual disability (NS-XLID) by
300 Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by e
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