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 ovement is possible despite total cerebellar agenesis'.
2 ongitudinal vaginal septum and lower vaginal agenesis.
3 ntrols, especially in patients with complete agenesis.
4 assification 1.2) with associated left renal agenesis.
5 cortical abnormalities, and partial callosal agenesis.
6 isability and frequently displaying callosal agenesis.
7 xhibited partial or complete corpus callosum agenesis.
8 es from individuals with isolated pancreatic agenesis.
9 ectasias, capillary anomalies, and capillary agenesis.
10 ngle gene mutations associated with callosal agenesis.
11 nd Slit2 upregulation, resulting in callosal agenesis.
12 the most common cause of isolated pancreatic agenesis.
13 n factor 1a) in ten families with pancreatic agenesis.
14 subjects with normal tooth number and tooth agenesis.
15 y atresia, choledochal cysts and gallbladder agenesis.
16 nopus foregut resulted in liver and pancreas agenesis.
17 lopmental defects associated with pancreatic agenesis.
18 of both ligands in mice, resulted in kidney agenesis.
19 box transcription factor, both lead to cecal agenesis.
20 o be the most common cause of human pancreas agenesis.
21 ental disorders are associated with callosal agenesis.
22 a loss of foregut gene expression and organ agenesis.
23 and intestine development and caused spleen agenesis.
24 6 in 15/27 (56%) individuals with pancreatic agenesis.
25 tion, as their loss of function causes liver agenesis.
26 2-O-sulfotransferase (Hs2st) leads to kidney agenesis.
27 piratory system, such as lung hypoplasia and agenesis.
28 %) and 2 of 10 fetuses (20%) with unilateral agenesis.
29 d in Fgf10 knockout mice, which exhibit lung agenesis.
30 mesenchyme is inhibited, resulting in renal agenesis.
31 piratory tract abnormalities, including lung agenesis.
32 ated with autosomal dominant inherited tooth agenesis.
33 68%, while survival was 54% in patients with agenesis.
34 duals with both orofacial clefting and tooth agenesis.
35 tations are also causal for hereditary tooth agenesis.
36 m patients who presented with isolated renal agenesis.
37 y shaped, or ectopic, otoconia, or otoconial agenesis.
38 n permanent diabetes mellitus and cerebellar agenesis.
39 y an important role in the etiology of tooth agenesis.
40 scripts, a circumstance that can explain its agenesis.
41 or being the most common cause of pancreatic agenesis.
42 ted in midline facial cleft and frontal bone agenesis.
43 (+) tracheal mesoderm and tracheal cartilage agenesis.
44 ing in severe Shh loss of function and digit agenesis.
45 ng of the genetic etiology of familial tooth agenesis.
46 l coccygeal segments to complete lumbosacral agenesis.
47 in 2 families with suspected syndromic tooth agenesis.
48 intellectual disability, and corpus callosum agenesis.
49 tear production and LG volume reduction and agenesis.
50 with blind hemivagina and ipsilateral renal agenesis.
51 ified as likely pathogenic in isolated tooth agenesis.
52 ne gliosis, increased Slit2, and complete CC agenesis.
53 phenotype correlation between PAX9 and tooth agenesis.
54 function of the PAX9 protein underlies tooth agenesis.
55 ing a significant number of patients with LG agenesis.
56 tations are associated with human pancreatic agenesis.
57 have been identified in patients with tooth agenesis.
58 hinese families with nonsyndromic (NS) tooth agenesis.
59 re a rare cause of pancreatic and cerebellar agenesis.
60 4 additionally revealed homolateral vaginal agenesis.
61 obstructed hemivagina and ipsilateral renal agenesis.
63 tuses that had bilateral or unilateral renal agenesis (29 subjects) or severe congenital renal dyspla
64 ized by a high prevalence of corpus callosum agenesis (32/80; 40%), and mild to severe cerebellar hyp
65 ound in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral
68 l anomalies including callosal hypoplasia or agenesis, abnormal basal ganglia and cerebellar hypoplas
70 tions as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with in
73 5Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three ind
76 the developing ureteric bud developed kidney agenesis and collecting duct cells had severe cytoskelet
77 genetic modifier contributing to pancreatic agenesis and demonstrates the usefulness of using patien
78 Frem1(eyes2) mice have eye defects, renal agenesis and develop retrosternal diaphragmatic hernias
79 ing Wnt2/2b expression exhibit complete lung agenesis and do not express Nkx2.1, the earliest marker
82 ne the most common cause of human pancreatic agenesis and establish a key role for the transcription
83 ects in lung maturation and exhibit callosal agenesis and forebrain defects that are similar to, but
88 novel LRP6 mutations in patients with tooth agenesis and investigate the significance of Lrp6 during
89 roadens the mutation spectrum of human tooth agenesis and is the first to identify a LRP6 mutation in
90 and environmental) determining both callosal agenesis and its autistic features, and what are the pro
91 individuals with isolated central pair (CP) agenesis and normal body laterality, from two unrelated
92 ctural abnormalities, in particular callosal agenesis and pontine hypoplasia, delayed myelination and
94 icant associations between patterns of tooth agenesis and rugae number, in addition to shape of prima
95 ical and molecular association between tooth agenesis and self-reported family history of cancer.
96 h increases the spectrum of congenital tooth agenesis and suggests attenuated Wnt signaling in endoth
97 etic contributions to kidney development and agenesis and the factors influencing susceptibility to r
103 atures of syndromes associated with callosal agenesis, and provides a genetic and developmental frame
106 ructed Seminal Vesicle and Ipsilateral Renal Agenesis) as an acronym for Zinner syndrome analogous to
107 ion in the entire epiblast leads to pancreas agenesis associated with abnormal gut regionalization.
111 ng periodontal disease, dental caries, tooth agenesis, cancers of the head and neck, orofacial pain,
112 ltisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodefi
113 ion to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, a
115 y, we investigated whether the 5 known tooth-agenesis-causing MSX1 missense mutations disrupt this Pa
116 Bmp4 promoter construct, and that most tooth-agenesis-causing PAX9 mutations impair DNA binding and B
117 leting both Fgf8 and Fgf20 results in kidney agenesis, defects in NPC proliferation, and cell death.
118 st-derived dental mesenchyme and cause tooth agenesis disorder when mutated in mouse and/or human.
119 ptors (NgR123-null mice) display complete CC agenesis due to axon misdirection evidenced by ectopic a
120 ta6 in the pancreas caused severe pancreatic agenesis due to disruption of pancreatic progenitor cell
122 ng bilateral cleft lip and palate and tongue agenesis, following the loss of the primary cilia in the
123 all available data on worldwide third molar agenesis frequencies, with a particular emphasis on expl
125 nd toward improved survival in patients with agenesis from 47% in the first 2 years to 59% in the las
128 in the control group and curved in the tooth agenesis group (p = 0.012 and p = 0.004, respectively).
135 ranslocation associated with bilateral renal agenesis has implicated the gene encoding the nuclear st
136 udy shows that modern individuals with tooth agenesis have indeed smaller facial configurations.
137 ith orofacial clefting with or without tooth agenesis have MSX1 coding mutations by screening 33 indi
138 tions in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are o
139 nal transduction components display cochlear agenesis; however, a detailed understanding of the trans
140 either factor are associated with pancreatic agenesis; however, homozygous deletion of both Gata4 and
141 eous stock-derived model of unilateral renal agenesis (HSRA) rat, which demonstrates 50%-75% spontane
142 included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease.
144 enital anomalies of seminal vesicles include agenesis, hypoplasia, duplication, fusion, and cyst.
145 mperature indicators were observed for renal agenesis/hypoplasia (positive) and anophthalmia/micropht
146 een AXIN2, FGF3, FGF10, and FGFR2 with tooth agenesis [i.e., individuals who carried the polymorphic
148 gene were identified segregating with tooth agenesis in 2 families, suggesting oligogenic inheritanc
149 hrogenesis, the demonstrated rescue of renal agenesis in a model of a human genetic disease raises th
153 y the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbed (Fra
154 y a few genes have been linked to pancreatic agenesis in humans, with mutations in pancreatic and duo
161 n contrast to complete deafness and cochlear agenesis in the C3HeB/FeJ strain, F2 Eya1(bor/bor) mutan
167 the 1994 paper was to show that 'cerebellar agenesis is always associated with profound motor defici
170 tering a patient with lacrimal dysgenesis or agenesis is not an uncommon occurrence in an oculoplasti
175 nactivated in human patients with cerebellar agenesis, is required to segregate the cerebellum from m
176 s autism spectrum disorders, corpus callosum agenesis, Joubert syndrome, Kallmann syndrome, and horiz
177 fralpha1(TM/TM) mice display bilateral renal agenesis, lack enteric neurons in the intestines, and ha
179 ignificant progress in the genetics of tooth agenesis, many gaps in knowledge exist in refining the g
180 specific CAKUT phenotype of unilateral renal agenesis may also be mutated in humans with isolated CAK
181 nitive impairments in subjects with callosal agenesis may overlap with the profile of autism spectrum
184 malformations, which include isolated tooth agenesis, microdontia, short tooth roots, taurodontism,
186 ice results in cardiac malformation, adrenal agenesis, neural tube, placental defects and partially p
187 otient and autism symptomatology in callosal agenesis, nor evidence that the presence of any residual
188 branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed
189 t women are 14% more likely than men to have agenesis of >/=1 third molars and that maxillary agenesi
192 s Odd 1(-/-) mutant embryos exhibit complete agenesis of adrenal glands, metanephric kidneys, gonads,
193 smorphism, brain malformation (microcephaly, agenesis of corpus callosum, and simplified gyration), a
194 mations including hippocampus hypoplasia and agenesis of corpus callosum, as well as neuromuscular an
195 disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac,
196 ation family with affected males showing ID, agenesis of corpus callosum, cerebellar hypoplasia, micr
198 oss of Lmx1a and Ngn2 expression, as well as agenesis of DA neurons in the midbrain floor plate.
200 in defects, whereas Nfic-deficient mice have agenesis of molar tooth roots and severe incisor defects
201 The phenotype is characterized by severe agenesis of multiple laminated cerebral structures affec
202 a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of th
204 ants had shortened limbs and almost complete agenesis of the autopod because of reduced cell prolifer
205 this defect could arise from instability or agenesis of the ciliary central microtubules due to loss
206 anual motor coordination in individuals with agenesis of the corpus callosum (ACC) was studied using
207 and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectu
209 and speech execution in 25 participants with agenesis of the corpus callosum (AgCC) and 21 matched ne
210 t for hemispheric dominance in patients with agenesis of the corpus callosum (AgCC) and found reduced
211 ate fMRI in eight adult humans with complete agenesis of the corpus callosum (AgCC) and normal intell
212 specifically, we investigated the effect of agenesis of the corpus callosum (AgCC), one of the most
214 motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC), a neurodevel
217 previously that Nfia-deficient mice exhibit agenesis of the corpus callosum and other forebrain defe
218 ound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the cli
221 that microglia deficiency may contribute to agenesis of the corpus callosum via reduction in CUX1(+)
222 had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cy
223 ficiency: Nova2-/- but not Nova1-/- mice had agenesis of the corpus callosum, and axonal outgrowth de
224 , spastic quadriplegia, developmental delay, agenesis of the corpus callosum, and enlargement of the
225 cluding enlarged ventricles, thinned cortex, agenesis of the corpus callosum, and significantly reduc
226 ventricles, reduced cerebral cortex, partial agenesis of the corpus callosum, and thinning of layers
227 ze of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
228 res present in multiple individuals included agenesis of the corpus callosum, ano-rectal malformation
229 Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmati
230 titutional DNA-mismatch repair deficiency is agenesis of the corpus callosum, the cause of which has
231 ntonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preax
232 g with dyskinetic cerebral palsy and partial agenesis of the corpus callosum, while histochemical and
236 beta-catenin in Isl1-expressing cells caused agenesis of the hindlimb skeleton and absence of the low
242 (Dnmt1) in pancreatic progenitors results in agenesis of the pancreas due to apoptosis of progenitor
243 left-dominant liver and short pancreas with agenesis of the pancreatic tail and lateral part of the
244 vival and proliferation, and consequently in agenesis of the perineum and severe hypoplasia of the ge
246 of Esrrg on both alleles (Esrrg(-/-)) showed agenesis of the renal papilla but normal development of
247 In addition, lack of both ligands causes agenesis of the swim bladder, the structural homolog of
252 e most severe renal anomaly, bilateral renal agenesis or hypoplasia (RA/H), has limited the ability t
254 /or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydact
255 le axon pathfinding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly)
256 nephronectin gene frequently display kidney agenesis or hypoplasia, which can be traced to a delay i
257 diated AKT/MAPK activation resulted in renal agenesis or kidney rudiments, whereas mutation of this r
258 PTF1A mutations in patients with pancreatic agenesis or neonatal diabetes but no cerebellar phenotyp
260 Complete loss of function in mice results in agenesis or severe disruption of periocular mesenchyme s
262 that stillborn fetuses with congenital renal agenesis or severe dysplasia would possess mutations in
263 lleles and one Etv5 allele show either renal agenesis or severe hypodysplasia, whereas kidney develop
264 e often in subjects with both CL/P and tooth agenesis (p = 0.0008), while the *6C-T variant was found
267 ene in these patient cells and 32 additional agenesis patients revealed a higher minor allele frequen
269 t the mutations co-segregated with the tooth agenesis phenotype (with exception of families in which
270 e GAG chain is key as evidenced by the renal agenesis phenotype in mice deficient in the HS biosynthe
271 ng view that the defect underlying the renal agenesis phenotype is due to a primary role for 2-O sulf
272 of Fgf9 and Fgf20, rescuing bilateral renal agenesis premature NPC differentiation, NPC proliferatio
273 nusual and interesting account of cerebellar agenesis published in Brain in 1994 by Glickstein, in wh
279 etween subjects with normal tooth number and agenesis suggests potential commonality in signal pathwa
281 that a loss of Eya 1 function leads to renal agenesis that is a likely result of failure of metanephr
282 PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition
284 compared a group of 26 adults with callosal agenesis to a group of 28 adults with a diagnosis of aut
285 etes manifestations, ranging from pancreatic agenesis to adult-onset diabetes with subclinical or no
286 ng from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesi
287 esis of >/=1 third molars and that maxillary agenesis was 36% more likely than mandibular agenesis in
294 years of the study, 36% of the patients with agenesis were discharged on tube feedings and 22% on oxy
295 childhood behaviour indicated children with agenesis were less likely to meet diagnostic criteria fo
296 ciency in mice results in metanephric kidney agenesis, whereas knockdown or mutation studies in zebra
298 r characterized by pancreatic and cerebellar agenesis, which indicates that the association of P48 an