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1 horoid plexus, either failed to form or were hypoplastic.
2 devoid of these cell types and were severely hypoplastic.
3 l mutants, endocardial cushions are markedly hypoplastic.
4 ers in homozygous ATF4 mutants were pale and hypoplastic.
5 the anterior lobe, but the anterior lobe was hypoplastic.
6 y arise from neural ectoderm, were extremely hypoplastic.
7 identified 2 ENAM mutations in kindreds with hypoplastic ADAI, 1 novel (g.4806A>C, IVS6-2A>C) and 1 p
8 ARgamma L466A knock-in (PPARKI) mice exhibit hypoplastic adipocytes, hypoadiponectinemia, increased s
9 H expression in the paraventricular nucleus, hypoplastic adrenal glands and decreased stress-induced
11 ions may be dose-dependent, with generalized hypoplastic AI segregating as a recessive trait and loca
12 etermine the generality of ENAM mutations in hypoplastic AI, we sequenced the ENAM gene in ten Turkis
16 ancreata developing without beta-catenin are hypoplastic, although their early progenitors appear nor
17 gnificant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost abs
18 ns in the ENAM gene have been found to cause hypoplastic amelogenesis imperfecta (AI), with phenotype
21 typic analyses of Shox2(-/-) mice revealed a hypoplastic and defectively differentiated DMP, likely a
22 Cask(-/-) (het/null) kidneys were moderately hypoplastic and demonstrated impaired aggregation of SIX
23 Enamel from amelogenin (Amelx) null mice is hypoplastic and disorganized, similar to that observed i
24 h large contributions of Wt1-/- cells showed hypoplastic and dysgenic testes, with seminiferous tubul
26 double-knockout (DKO) kidneys were severely hypoplastic and dysplastic and demonstrated rapid, prema
29 The exocrine compartment of mutant mice was hypoplastic and individual acini produced few zymogen gr
30 All cultured incisors of Tbx1-/- mice were hypoplastic and lacked enamel, while thorough histologic
32 l crypts of Villin(Cre);Dclk1(f/f) mice were hypoplastic and more apoptotic 24 h post-total body irra
33 otch2(del1)/Notch2(del1 )mutant kidneys were hypoplastic and mutant glomeruli lacked a normal capilla
34 ic day (E) 18.5 Six2Frs2alphaKO kidneys were hypoplastic and not cystic, postnatal day (P) 7 mutants
35 plicated posteriorly, while the inner ear is hypoplastic and shows neither a vestibular apparatus nor
38 e expressing the mutant PDX-1 transgene were hypoplastic, and these mice died within 3 weeks of birth
40 response to nucleosomal stress underlies the hypoplastic anemia in myelodysplastic syndromes (MDS) wi
41 n of the RPS14 gene is a key effector of the hypoplastic anemia in patients with myelodysplastic synd
42 s; mild pigmentation defects and macrocytic, hypoplastic anemia occur in heterozygous mice, and more
43 -Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy.
44 d-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia that usually presents early in infanc
48 eat arteries (n=7), coarctation of the aorta/hypoplastic aortic arch (n=5), tetralogy of Fallot (n=1)
49 ayed severe vascular abnormalities including hypoplastic arterial wall, short/absent brachiocephalic
51 mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta
52 g in the developing myocardium resulted in a hypoplastic AV node, with specific loss of slow-conducti
57 owed severely reduced sinus horn myocardium, hypoplastic caval veins, and a persistent left inferior
61 ngly, ciliary conditional mutant mice have a hypoplastic cerebellum in which the proliferation of cer
62 rized by delayed closure of the fontanel and hypoplastic clavicles that result from defective intrame
67 a decreased proliferation of mesenchyme and hypoplastic cushions that failed to septate the ventricu
68 VEGFR3 in epidermal keratinocytes exhibited hypoplastic cutaneous lymph capillaries and increased Na
69 deficient in bcl-2 (bcl-2-/-) develop renal hypoplastic/cystic dysplasia, a condition that leads to
71 Nkx2-5 loss of function can be attributed to hypoplastic development of the relevant structures in th
73 sh embryos, synectin knockdown resulted in a hypoplastic dorsal aorta and hypobranched, stunted, and
78 ox/flox);Tie2-cre mice die before E14.5 with hypoplastic ECs, reduced cell proliferation and altered
79 (MeHg) during development, many neurons are hypoplastic, ectopic, and disoriented, indicating disrup
80 the dental epithelium by K14-cre resulted in hypoplastic enamel and reduced density in X-ray radiogra
81 rved clinically, the surface of ENAM-mutated hypoplastic enamel can appear to be normal, yet severe s
82 n altered enamel matrix and rod pattern, has hypoplastic enamel that delaminates from the dentin, and
83 delG mutation, the phenotype was generalized hypoplastic enamel with shallow horizontal grooves in th
84 , mutations in the human enamelin gene cause hypoplastic enamel, often with horizontal grooves, but t
88 ntial component of mTORC2, survive despite a hypoplastic epidermis and disruption in late stage termi
90 radicular dentin in these mice showed severe hypoplastic features, which were likely caused by disrup
91 rostral head and we generate embryos with a hypoplastic forebrain, fused eyes, and no frontonasal pr
92 AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q1
95 xhibited abnormal genital morphogenesis with hypoplastic genitalia, a single cloacal opening, and per
98 phenotypes were observed in mutant embryos: hypoplastic heart tubes with misaligned cardioblasts and
101 The affected mother had several shallow hypoplastic horizontal grooves in the lower anterior tee
105 We found that hematopoietic tissues were hypoplastic in Ssbp2(-/-) mice, and the frequency of lym
107 mutant mice, in which the exocrine tissue is hypoplastic, in order to reveal a possible requirement f
108 ce had renal agenesis, and the remainder had hypoplastic kidneys and developed tubulocystic abnormali
109 Loss of function of GAS1 in vivo results in hypoplastic kidneys with reduced nephron mass due to pre
110 By postnatal day 4, 65% of BMP7 CKO mice had hypoplastic kidneys, but glomeruli demonstrated normal p
111 ydronephrosis, hydroureter, and occasionally hypoplastic kidneys, whereas Cask-null mice do not.
113 or recessive MYH6 mutations in patients with hypoplastic left heart and reduced systemic right ventri
114 unction by echocardiography in patients with hypoplastic left heart and their first-degree relatives
117 iology is indicated by an association of the hypoplastic left heart phenotype with terminal 11q delet
118 h dominant right ventricle (66% vs. 36%) and hypoplastic left heart syndrome (HLHS) (47% vs. 13%).
119 dy was designed to identify disease loci for hypoplastic left heart syndrome (HLHS) and evaluate the
120 is (AVS), coarctation of the aorta (COA) and hypoplastic left heart syndrome (HLHS) are congenital ca
121 Outcome of stage 1 palliation (S1P) for hypoplastic left heart syndrome (HLHS) has improved coin
122 oppler (PVD) flow patterns in the fetus with hypoplastic left heart syndrome (HLHS) have been correla
123 ent strategies for preoperative infants with hypoplastic left heart syndrome (HLHS) include increased
127 y blood flow after the Norwood operation for hypoplastic left heart syndrome (HLHS) is critical to ea
130 progression of fetal aortic stenosis (AS) to hypoplastic left heart syndrome (HLHS) requires identifi
132 mmune model of structural CHD that resembles hypoplastic left heart syndrome (HLHS), a life-threateni
134 lvotomy, shunt type in staged palliation for hypoplastic left heart syndrome (HLHS), and strategies f
147 and suitable for follow-up of patients with hypoplastic left heart syndrome after Fontan palliation.
149 al defect for the treatment of neonates with hypoplastic left heart syndrome and an intact or restric
150 microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atr
151 and improvement of outcomes in fetuses with hypoplastic left heart syndrome and intact atrial septum
152 en fetuses at 26 to 34 weeks' gestation with hypoplastic left heart syndrome and intact or highly res
154 bstructions and nitrogen dioxide and between hypoplastic left heart syndrome and particulate matter w
155 o, the progress in the 3-stage palliation of hypoplastic left heart syndrome and related single right
156 ll 5-year survival, particularly in cases of hypoplastic left heart syndrome and single ventricle.
157 in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome and, in a subset of case
159 culate matter was positively associated with hypoplastic left heart syndrome but inversely associated
166 t ventricular (RV) function in patients with hypoplastic left heart syndrome is important during long
167 o with the modified Blalock-Taussig shunt in hypoplastic left heart syndrome or variants is currently
168 ation-derived indices of RV contractility in hypoplastic left heart syndrome patients after Fontan pa
169 orwood, Sano, and Hybrid, currently used for hypoplastic left heart syndrome pose a risk of myocardia
170 progressive improvement in surgical results, hypoplastic left heart syndrome remains one of the conge
172 m from failure was 79% (95% CI, 61%-89%) for hypoplastic left heart syndrome versus 92% (95% CI, 87%-
174 ted left ventricle predictably progresses to hypoplastic left heart syndrome when associated with cer
175 the following hypotheses: (1) patients with hypoplastic left heart syndrome who develop significant
176 cal data were reviewed for 138 children with hypoplastic left heart syndrome who underwent stage I su
177 rid approach achieves stage 1 palliation for hypoplastic left heart syndrome with different flow char
179 ubtypes were associated with smaller HC, eg, hypoplastic left heart syndrome, -0.39 (95% CI, -0.58 to
180 Five-year survival varied by defect type: hypoplastic left heart syndrome, 38.0% (95% confidence i
182 the great arteries, interrupted aortic arch, hypoplastic left heart syndrome, and aortic coarctation,
183 cantly higher ORs for atrial septal defects, hypoplastic left heart syndrome, aortic stenosis, pulmon
184 ring 3-stage single-ventricle palliation for hypoplastic left heart syndrome, attrition after the Nor
185 fetal diagnosis of aortic stenosis/evolving hypoplastic left heart syndrome, more than twice as many
186 um atrial septal defect, aortic coarctation, hypoplastic left heart syndrome, patent ductus arteriosu
188 cular repair surgery in infant patients with hypoplastic left heart syndrome, where surgical removal
204 oplasty; shunt type in staged palliation for hypoplastic left heart syndrome; strategies for SCP.
205 e sought to identify genetic determinants of hypoplastic left heart with latent right ventricular dys
211 s with isolated coarctation and at least one hypoplastic LH valve (mitral or aortic Z-score <-2) who
214 d cyclical prenatal mechanical strain on the hypoplastic lung of the ovine model of congenital diaphr
216 hypoplasia observed in both nitrofen-induced hypoplastic lungs as well as human hypoplastic CDH lungs
217 the defective cell type in nitrofen-induced hypoplastic lungs due to a decreased ability to undergo
218 mine the fetal in vivo microRNA signature in hypoplastic lungs of human fetuses with severe isolated
224 s that p27 deficiency might recapitulate the hypoplastic mammary phenotype of cyclin D1-deficient ani
225 chial arch-specific enhancer also leads to a hypoplastic mandible and cleft palate formation in mice.
226 luding a bony fusion between the maxilla and hypoplastic mandible, resembling the bony syngnathia syn
227 results in the random presence or absence of hypoplastic mandibular arch-derived muscles at later dev
228 These changes resulted in the formation of a hypoplastic mandibular process and truncated Meckel's ca
229 ak1-deficient mutants display a round skull, hypoplastic maxilla and mandible, and cleft palate resul
230 xpress detectable levels of KGF message, the hypoplastic medullary TE compartment can be expanded by
232 tal defect, unicommissural aortic valve, and hypoplastic mitral valve or left ventricle are independe
233 are also of clinical relevance as targeting hypoplastic muscles might present a novel preventative m
234 lts in profound cardiac defects that include hypoplastic myocardium and a deficiency of pericardial a
235 ecause of profound cardiac defects including hypoplastic myocardium, membranous ventricular septal de
237 n four of the 15 children (26.7%) including: hypoplastic nails and shortened fifth fingers (one), mic
238 during frontonasal development, which led to hypoplastic nasal process outgrowth, epithelial seam per
239 e factor 7 activity die at birth and display hypoplastic olfactory bulbs which lack peripheral innerv
242 d vessel phenotypes of Tbx1 heterozygotes as hypoplastic or aplastic at the conclusion of pharyngeal
243 ation, dysgenesis of angle structures, and a hypoplastic or disorganized iris were also observed in t
244 zygous Pax9neo mutants (Pax9neo/neo) exhibit hypoplastic or missing lower incisors and third molars,
245 dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears(1)(-)(3).
247 congenital anomaly associated with absent or hypoplastic pectoralis major muscle and a wide spectrum
248 tract defects including persistent cloaca - hypoplastic perineum tissue between external urogenital
249 d that VEGF-C-deficient hearts have severely hypoplastic peritruncal vessels, resulting in delayed an
253 dium of transgenic embryos recapitulates the hypoplastic phenotype of RXRalpha deficient embryos.
254 ands of betaTrcp1(-/-) female mice display a hypoplastic phenotype, whereas no effects on cell prolif
258 primordia was also affected, with absent or hypoplastic primordia, delayed expression of organ-speci
259 dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent lo
260 ctrum, including great vessel malformations, hypoplastic pulmonary and aortic arch arteries, cardiac
262 istal symphysis of Meckel's cartilage became hypoplastic, resulting in the formation of a single fuse
263 and we observed that these animals displayed hypoplastic retinas and underdeveloped mammary glands an
264 se mice display developmental abnormalities, hypoplastic retinas, and pregnancy-insensitive mammary g
265 ortic arch (n=5), tetralogy of Fallot (n=1), hypoplastic right heart (n=1), and common arterial trunk
266 myocardium results in tricuspid atresia with hypoplastic right ventricle associated with the loss of
267 w heart beat rate (bradycardia) and severely hypoplastic SAN and sinus valves attributed to a signifi
270 features of disease include an opacified and hypoplastic sinus, a lateralized uncinate process, depre
271 Loss of COUP-TFII in the limbs leads to hypoplastic skeletal muscle development, as well as shor
272 ed dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malforma
274 lasia and pulmonary hypoplasia, pale livers, hypoplastic spleen, thymus, and bone marrow, cardiac hyp
278 cell differentiation occurs in the severely hypoplastic thymus to allow the development of CD4/CD8-d
279 corpus callosum and anterior commissure, and hypoplastic to absent olfactory sulci, olfactory bulbs a
281 ere found, including infertility, relatively hypoplastic uteri, abnormal ovaries, stunted mammary gla
283 rm atrial septum, display dilated atria with hypoplastic venous valves, and exhibit blood backflow fr
284 it BAF180 in mouse embryos results in severe hypoplastic ventricle development and trophoblast placen
285 loss of Grk2/3 results in dilated atria and hypoplastic ventricles, and the hearts of embryos deplet
286 due to congenital heart defects, to recruit hypoplastic ventricles, to create a two-ventricle circul
288 CAVC), double outlet right ventricle (DORV), hypoplastic ventricular myocardium, and normal coronary
292 h-derived levator veli palatini muscles were hypoplastic, which was associated with an earlier altere
294 growth retardation, and the pituitaries are hypoplastic with an abnormal branching of the anterior l
297 in we show that Six1(-/-) lungs are severely hypoplastic with greatly reduced epithelial branching an
298 null mice at postnatal 8 weeks are extremely hypoplastic with markedly decreased numbers of Ki67+ cel
299 er we show that Eya1(-/-) lungs are severely hypoplastic with reduced epithelial branching and increa
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