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 syndromes (maternally inherited diabetes and deafness).
2 non-syndromic hearing loss in humans (DFNB9 deafness).
3 inant-negative MAFB mutation causing DRS and deafness.
4 t and Toddler Development III, blindness, or deafness.
5 ng cats and those with early- and late-onset deafness.
6 CMV) infection is a major cause of childhood deafness.
7 dly applicable as a therapy for this type of deafness.
8 in, a binding partner of CDH23 implicated in deafness.
9 idosis, hypotonia, feeding difficulties, and deafness.
10 , causing palmoplantar keratoderma (PPK) and deafness.
11 utosomal-dominant, nonsyndromic, early-onset deafness.
12 ch also ruled out p.Arg1066* as the cause of deafness.
13 ene are found in most cases of human genetic deafness.
14 ng cats, and cats with early- or adult-onset deafness.
15 auditory stimuli, resulting in inattentional deafness.
16 and ILDR1 (DFNB42) cause human nonsyndromic deafness.
17 cy suffer severe neurological disability and deafness.
18 and maintenance, and their absence leads to deafness.
19 emained unchanged in animals with congenital deafness.
20 myosin 15 stunt stereocilia growth and cause deafness.
21 pressed in hair cells often cause hereditary deafness.
22 nt (DFNA8/12) or recessive (DFNB21) forms of deafness.
23 ng cats and those with early- and late-onset deafness.
24 they do not regenerate, leading to permanent deafness.
25 sual-based phonological task in post-lingual deafness.
26 icular tachycardia, and congenital bilateral deafness.
27 did not have seizures and three did not have deafness.
28 e interpretation of genetic variants causing deafness.
29 endent diabetes mellitus, optic atrophy, and deafness.
30 age tends to accumulate, leading to profound deafness.
31 at alter the bundle's morphology often cause deafness.
32 d to be implicated in USH2 and non-syndromic deafness.
33 orm this task, regardless of the duration of deafness.
34 ers linked to DFNB86 segregate with profound deafness.
35 24 can cause either epilepsy or nonsyndromic deafness.
36 arget a dominantly inherited form of genetic deafness.
37 development of mice with connexin-associated deafness.
38 a mitochondrial tRNAHis mutation leading to deafness.
39 aring loss in a mouse model of human genetic deafness.
40 tion of tTJ proteins contributes to familial deafness.
41 ations on both KCNQ1 alleles present without deafness.
42 peutic potential of ASOs in the treatment of deafness.
43 generate, and their loss is a major cause of deafness.
44 on of these patients have distinct levels of deafness.
45 sent noddy, a new mouse model for hereditary deafness.
46 re similar between patients with and without deafness.
47 scolopale cells, and caused almost complete deafness.
48 syndrome characterized by severe myopia and deafness.
49 ial therapeutic approach to the treatment of deafness.
50 ations that cause arrhythmias, epilepsy, and deafness.
51 using specific drivers, resulted in complete deafness.
52 ells in the organ of Corti and ultimately to deafness.
53 COMT that is linked to schizophrenia, cause deafness.
54 aracterized by high myopia and sensorineural deafness.
55 rescued in a mouse model of human hereditary deafness.
56 rts to restore these cells in cases of human deafness.
57 area in individuals with early and profound deafness.
58 al practice to sequence ATOH1 in people with deafness.
59 f the right temporal cortex during and after deafness.
60 associated with ichthyosis and sensorineural deafness.
61 tes, congenital cataracts, and sensorineural deafness.
62 e models DFNB1 nonsyndromic hearing loss and deafness.
63 both sexes (Atoh1(lacZ/+)) have adult-onset deafness.
64 tion also leading to loss of MET current and deafness.
65 the m.7551A > G mutation are associated with deafness.
66 enes are associated with hereditary forms of deafness.
67 rats, which is partly reversed 90 days after deafness.
68 microphthalmia, macrocephaly, albinism, and deafness.
69 nce gene therapy approaches to treat genetic deafness.
70 mouse line with an Nptn mutation that causes deafness.
71 itory cortex remained auditory in congenital deafness.
72 by congenital, prelingual, and long standing deafness?
73 monkeys showed that social isolation [2, 3], deafness [2], cross-fostering [4] and parental absence [
79 unctional adaptation following early or late deafness, afferent projections to AAF were examined in h
80 lts demonstrate that congenital and profound deafness alters how vision and somatosensation are proce
82 NA causes maternally inherited, nonsyndromic deafness, an extreme case of tissue-specific mitochondri
83 Tecta cause dominant forms of non-syndromic deafness and a genotype-phenotype correlation has been r
85 xin 26 (CX26) cause prelingual, nonsyndromic deafness and are responsible for as many as 50% of hered
93 ght into the pathophysiology of human DFNB42 deafness and demonstrate that ILDR1 is crucial for norma
94 -like episodes (MELAS), maternally inherited deafness and diabetes (MIDD) and progressive external op
97 eport siblings with congenital sensorineural deafness and lactic acidemia in association with combine
98 ifestations of fetal HCMV disease range from deafness and learning disabilities to more severe sympto
101 al for autosomal dominant cerebellar ataxia, deafness and narcolepsy are located in the C-terminus en
103 ial RC dysfunction, congenital sensorineural deafness and progressive hepatic and renal failure.
104 Distinguishing clinical features included deafness and renal involvement associated with RMND1 and
105 uman TMC1 and TMC2 genes are linked to human deafness and required for hair-cell mechanotransduction;
106 e 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exom
107 hus, individuals with DOORS syndrome without deafness and seizures but with the other features should
109 complexes affected in two forms of syndromic deafness and suggests a molecular function for Myosin II
110 ing visual cortical areas from 2 weeks after deafness and these changes stabilize three months after
113 eneralized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27
115 ations: GJB2, the leading cause of childhood deafness, and DIAPH3, a cause of auditory neuropathy.
116 w insights into the developmental origins of deafness, and guide efforts to restore connectivity in t
117 ctive Cx26 expression is the likely cause of deafness, and in contrast to current opinion, Cx30 is di
119 such as in hypoparathyroidism, sensorineural deafness, and renal (HDR) syndrome - by OPG therapy.
120 y also causes human HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome, often accompani
121 es blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.21
126 ised auditory thresholds due to a conductive deafness arising from a chronic effusion starting at aro
127 d7 knockout mice exhibit congenital profound deafness, as assessed by auditory brainstem response, di
129 Ildr1 mutant alleles have early-onset severe deafness associated with a rapid degeneration of cochlea
130 ts (73%) presented without the sensorineural deafness associated with Jervell and Lange-Nielsen syndr
133 nts that preferentially disrupt the dominant deafness-associated allele in the Tmc1 (transmembrane ch
135 e molecular genetic mechanism underlying the deafness-associated mitochondrial tRNAHis 12201T>C mutat
136 ated the pathogenic mechanism underlying the deafness-associated mitochondrial(mt) tRNA(Asp) 7551A >
140 strates differences in effects of congenital deafness between supragranular and other cortical layers
142 r protein myosin VIIa, can cause Usher 1B, a deafness/blindness syndrome in humans, and the shaker-1
143 dysfunction, which frequently co-occurs with deafness but often remains undiagnosed, rather than audi
144 L2 has been implicated in autosomal-dominant deafness, but mutations have not yet been associated wit
145 n type may serve as a genetic determinant of deafness, but not cardiac expressivity, in individuals h
146 l months, providing evidence that congenital deafness can be effectively overcome by treatment early
149 mouse, a murine model of non-syndromic human deafness caused by a dominant gain-of-function mutation
153 er, there are TMC1 mutations linked to human deafness causing loss of conventional MET currents, hair
154 erence-mediated suppression of an endogenous deafness-causing allele to slow progression of hearing l
159 iseases including nonsyndromic sensorineural deafness, Charcot-Marie-Tooth disease-5, and Arts Syndro
160 lasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of mu
161 seen in numerous genes linked to hearing or deafness, consistent with an involvement in echolocation
162 d in ZP2 but is conserved in the sequence of deafness/Crohn's disease-associated homopolymeric glycop
163 rate that cortical plasticity resulting from deafness depends on language experience and that finding
167 ng protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J).
172 ths (2 before 6 months) (5/5), sensorineural deafness diagnosed soon after birth (5/5), congenital ca
173 show that Eya1, which is mutated in a human deafness disorder, branchio-oto-renal syndrome, is criti
174 PRETATION: MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible
178 Myosin IIIa, defective in the late-onset deafness form DFNB30, has been proposed to transport esp
184 We found that many of the known hereditary deafness genes are much more highly expressed in hair ce
189 el, which is homologous to the mammalian tmc deafness genes, attenuates development and inhibits sexu
194 SL) as their first language, most studies on deafness have been conducted with deaf native users of A
195 Although many new genes contributing to deafness have been identified, very little is known abou
196 hermore, the majority of previous studies on deafness have involved the primary auditory cortex; know
197 eity of behavioral disorders associated with deafness have usually focused on socio-environmental rat
198 and the shaker-1 phenotype, characterized by deafness, head tossing, and circling behavior, in mice.
200 lin, a transmembrane protein responsible for deafness in DFNB9 families, has been postulated to act a
201 molecular explanation for the sensorineural deafness in ectodermal dysplasia patients with TRP63 mut
205 mouse model (Snell's waltzer) for hereditary deafness in humans that has a mutation in the gene encod
206 ix-C2 domain transmembrane protein linked to deafness in humans, is hypothesized to play a role in ex
207 odels for the most common form of congenital deafness in humans, which are knock-outs for the gap-jun
208 odels for the most common form of congenital deafness in humans, which are knockouts for the gap-junc
220 ear and cytoplasmic PPIs implicated in human deafness, in addition to dissecting these interactions u
222 bestows hearing to individuals with profound deafness, Ingeborg Hochmair, Graeme Clark, and Blake Wil
224 loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycepha
234 CDH23 and help explain the etiology of human deafness linked to mutations in the tip-link interface.
236 by immunohistochemistry map to human genetic deafness loci, potentially representing new deafness gen
237 italia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple
238 terozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection,
239 er that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in male
240 ve form of long-QT syndrome characterized by deafness, marked QT prolongation, and a high risk of sud
241 d suggest that biological therapies to treat deafness may be suitable for translation to humans with
242 omatosensory afferent connectivity following deafness may reflect corticocortical rewiring affording
243 allele, previously reported in nonsyndromic deafness, may be associated with a mild retinopathy.
244 ral ganglion neurons, indicating that DFNB86 deafness might be an auditory neuropathy spectrum disord
245 hough m.1555A>G was identified as a cause of deafness more than twenty years ago, the pathogenic mech
250 odel to investigate the effects of long-term deafness on auditory localization with BiCIs and approac
253 evere neurodegeneration, epilepsy, and DOOR (deafness, onychdystrophy, osteodystrophy, and mental ret
254 he five main features of the DOORS syndrome: deafness, onychodystrophy, osteodystrophy, intellectual
256 ntral and peripheral nervous system, include deafness, optic neuropathy-previously not reported in HS
258 tions in GJB2 (connexin [Cx]26) cause either deafness or deafness associated with skin diseases.
259 composite score of less than 70, blindness, deafness, or cerebral palsy at 18 to 22 months corrected
260 ry cerebral palsy), neurosensory (blindness, deafness, or need for visual/hearing aids), or neurocogn
261 CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy, parkinsonism, and/or co
262 , the disruption of which contributes to the deafness phenotype observed in mice and DFNB1 patients.
263 , the disruption of which contributes to the deafness phenotype observed in mice and DFNB1 patients.
264 and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifi
265 ependently in each ear do not fully overcome deafness-related binaural processing deficits, even afte
266 n-binding protein 2 and one carrying a human deafness-related Cib2 mutation, and show that both are d
268 C1D24 in an additional large family in which deafness segregates with DFNB86 identified the c.208G>T
270 progressive cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrom
271 undergo cross-modal reorganization following deafness, such that behavioral advantages in visual moti
273 ear in individuals with keratitis-ichthyosis-deafness syndrome and finding somatic mutations in their
274 utation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO2 insensitive and associat
278 he pathophysiology of maternally transmitted deafness that was manifested by altered nucleotide modif
279 neural mechanisms underlying "inattentional deafness"--the failure to perceive auditory stimuli unde
283 anism whereby Cx26 mutations causing PPK and deafness transdominantly influence multiple functions of
284 rs contribute to almost half of all cases of deafness, treatment options for genetic deafness are lim
287 show that evaluation of reported pathogenic deafness variants using variant MAFs from multiple disti
289 type 1, characterized by profound congenital deafness, vestibular arreflexia, and progressive retinal
292 ion analyses demonstrated that the effect of deafness was more task-dependent in the left than the ri
294 e, using two mouse models of CX26-associated deafness, we demonstrate that disruption of the CX26-dep
295 uineous family with congenital non-syndromic deafness, we unexpectedly identified a homozygous nonsen
296 provide a new genetic model for nonsyndromic deafness with enlarged vestibular aqueduct (EVA; OMIM #6
298 d mice (including models of human hereditary deafness) with missing or modified TM proteins, we demon
299 of projections to A1 are modified following deafness, with statistically significant changes occurri
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。