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1 e phenotypes in heart, eye, and craniofacial dysmorphology.
2 on of capn8 phenocopies dact1/2 craniofacial dysmorphology.
3 Golgi trafficking with a clinically relevant dysmorphology.
4 stibular function, DNA repair, behavior, and dysmorphology.
5 f Down syndrome (DS), including craniofacial dysmorphology.
6 hat leads to selective growth inhibition and dysmorphology.
7 ders are associated with graded global brain dysmorphology.
8 ncal heart defects, cleft palate, and facial dysmorphology.
9 alate, conotruncal heart defects, and facial dysmorphology.
10 the joints, hypertrichosis, and craniofacial dysmorphology.
11 oreceptors develop striking, but reversible, dysmorphology.
12  precise, individual-specific comparisons of dysmorphology.
13  variants in the 8q24 region on human facial dysmorphologies.
14 ental disorder, and results in shared facial dysmorphologies.
15 f the BWC's organ of Corti revealed numerous dysmorphologies: 1) hair cells from the tall hair cell r
16 ina from E11.5, the neuroretina showed gross dysmorphology along with aberrant expression of markers
17 ciency, conotruncal heart defects and facial dysmorphology among others.
18 s well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders.
19 ociates Elmod3 deficiencies with stereocilia dysmorphologies and reveals that they might play roles i
20 ations in the clarin-1 gene have hair bundle dysmorphology and a delay in synapse maturation.
21 , and that Nxn deficient mice have pituitary dysmorphology and craniofacial abnormalities that includ
22 ed into the gut, restored stroke-induced gut dysmorphology and decreased gut permeability, and reduce
23 ompanied by intellectual disability, autism, dysmorphology and gastrointestinal problems.
24   In addition, IP-IGF1 treatment reduced gut dysmorphology and gut dysbiosis.
25 ted; Six3 heterozygotes have pituitary gland dysmorphology and incompletely ossified palate; and the
26  disorders (FASD) are often born with facial dysmorphology and may exhibit cognitive, behavioral, and
27 nary dysfunction, corneal clouding, and bone dysmorphology and mineral density.
28 al to LIS1 may be responsible for the facial dysmorphology and other abnormalities seen in MDS but no
29 c marker, T-box 20, caused marked myocardial dysmorphology and perturbations in scar formation on myo
30 yos significantly increases the frequency of dysmorphology and severity of ciliopathy developmental d
31 tively screened retired breeders for surface dysmorphologies, and for intraocular defects by indirect
32 pmental defects including syndactyly, facial dysmorphology, and a mild defect in hard palate formatio
33 luding elevated levels of ROS, mitochondrial dysmorphology, and behavioral defects.
34 , correction of the ultrastructural synaptic dysmorphology, and correction of the hypothermia, metabo
35 hed features of the syndrome are PDA, facial dysmorphology, and fifth-finger clinodactyly.
36 the characteristic cry, speech delay, facial dysmorphology, and level of mental retardation (MR).
37 nnels result in mitochondrial Ca2+ overload, dysmorphology, and malfunction.
38 d class of human disorders with craniofacial dysmorphology as a common feature.
39  exposure in rats appears to produce similar dysmorphology as we have reported in the autistic human
40 ailed ophthalmic examination, accompanied by dysmorphology assessment where appropriate.
41 -3-gallate (GTE-EGCG) for alleviating facial dysmorphologies associated with DS, we performed an expe
42 d to have genetic diagnoses, indicating that dysmorphology-based screening can be used to risk-strati
43 literature has focused on medical review and dysmorphology but has yet to prospectively assess neurob
44 bit craniofacial defects and pituitary gland dysmorphology, but normal pituitary cell specification.
45       Besides causing stigmata, these facial dysmorphologies can impair vital functions such as heari
46 rtise in epidemiology, pediatrics, genetics, dysmorphology, clinical trials, and infectious diseases
47 elopmental impairment with or without facial dysmorphology, congenital anomalies and poor growth.
48 some subjects present with mild craniofacial dysmorphology, congenital cardiac anomalies and seizures
49 nclude cardiovascular problems, craniofacial dysmorphology, deficits in visual-spatial cognition and
50 ysfunction without normalizing mitochondrial dysmorphology, demonstrating a central role for mitochon
51 ficient cardiomyocyte mitochondria exhibited dysmorphology, depolarization, and reactive oxygen speci
52        Despite the frequency of craniofacial dysmorphology due to 22q11.2 deletion, there is still in
53 cteristic of FAS diminish with age, making a dysmorphology evaluation in adulthood less reliable.
54  signaling pathways involved in the observed dysmorphology following inactivation of RFC1-mediated fo
55 MA, show that we can uncover known and novel dysmorphology from two IMPC knockout lines.
56 ctual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neuro
57 craniofacial malformations resembling facial dysmorphologies in craniosynostosis syndrome.
58                        We identified cranial dysmorphologies in Dp1Tyb mice, especially smaller size
59 ic acid (RA) induces various anatomical limb dysmorphologies in mice dependent on the time of exposur
60 7.5 dpc embryos and variable degrees of node dysmorphology in 7.75 dpc embryos suggested that the pat
61 e (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosi
62 pted normal development and increased facial dysmorphology in both trisomic and euploid mice.
63 mentation was associated with reduced facial dysmorphology in children with DS when treatment was adm
64 ons of the MSO, and also reveals significant dysmorphology in five other SOC nuclei.
65 l disruptions with subtle or no craniofacial dysmorphology in mice.
66 DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes.
67  the authors looked for evidence of striatal dysmorphology in patients with chronic cocaine dependenc
68     Indeed, we have demonstrated significant dysmorphology in the superior olivary complex (SOC), a c
69 -EGCG administration towards reducing facial dysmorphology in young children with Down syndrome has y
70 BO exposure caused characteristic HPE facial dysmorphology including dose-dependent midface hypoplasi
71  laevis and Danio rerio yielded craniofacial dysmorphologies, including clefts analogous to those see
72 c keratocysts, skeletal anomalies and facial dysmorphology, including cleft lip and palate.
73     Infants with craniosynostosis have skull dysmorphology, increased intracranial pressure, and comp
74 ded DNA breaks, and induces profound nuclear dysmorphology, indicating that, in addition to its direc
75                                       Facial dysmorphology is a hallmark of 22q11.2 deletion syndrome
76                        Thus, DS craniofacial dysmorphology is caused by an increased dosage of Dyrk1a
77                         This 22q11DS-related dysmorphology is particularly evident in the midline of
78 aceted molecular pathophysiology: the facial dysmorphology may be due to pattern defects caused by ha
79  express wnt5b, and we show that two complex dysmorphologies - MB and cyclopia - can be promoted by e
80 ope (NE) proteins, nuclear and mitochondrial dysmorphology, myofibrillar disorganization and up-regul
81 sum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing l
82 segment orthologous to the DSCR and assessed dysmorphologies of the craniofacial skeleton that show d
83 ce of a missing jaw joint, as well as severe dysmorphologies of the facial skeleton, skullcap and spi
84       Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with
85                           Dlg4(/) had subtle dysmorphology of amygdala dendritic spines and altered f
86 ed with thickening of the basement membrane, dysmorphology of basal processes, synaptic malformations
87                                      Nuclear dysmorphology of neutrophils in patients with MNs is ass
88    This phenotype is accompanied by a severe dysmorphology of the cartilaginous skeleton and failure
89 ere several human genetic diseases involving dysmorphology of the skeleton have been assigned, raises
90 ton, as evidenced by a robustly quantifiable dysmorphology of the vomer, an unpaired facial midline b
91     At >1 year of age, these mice exhibit no dysmorphology or overt neurological problems.
92 haracterized by hypertrichosis, craniofacial dysmorphology, osteochondrodysplasia, patent ductus arte
93 an unusual high-pitched cry at birth, facial dysmorphology, poor growth, and severe mental retardatio
94  demonstrates that measures of IQ and facial dysmorphology predict, to some degree, the structural br
95     We sought to determine whether the brain dysmorphology previously observed cross-sectionally in p
96  RP with systemic features, including facial dysmorphologies, psychomotor developmental delays recogn
97 ed phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmen
98                        We quantified a novel dysmorphology score and combined it with other clinical
99                      We sought to quantify a dysmorphology score and develop phenotype-based predicti
100                                          The dysmorphology score is a novel screen for patients with
101 this effect further: each +1 increase in the dysmorphology score was associated with a 17% to 20% inc
102 10% of the cohort were minimally dysmorphic (dysmorphology scores <=2), had isolated CHD, and were fo
103 ther nondysmorphic or mildly dysmorphic with dysmorphology scores <=2.
104                            There were higher dysmorphology scores according to CHD class (P=0.0007),
105 gous for the Jag1 null allele exhibit an eye dysmorphology similar to that of Cm /+ heterozygotes, bu
106 rozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia.
107 r with repeated deprivation (RD-Alc), causes dysmorphology--thickened, beaded, and disoriented dendri
108 necting ELMOD1 deficiencies with stereocilia dysmorphologies thus establishes a link between the Ras
109 normal middle ear cavity and eustachian tube dysmorphology; thus, Eya4 regulation is critical for the
110 5S635; and the region associated with facial dysmorphology to 2.4 Mb in 5p15.2-15.31, between BACs co
111 utis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent ske
112                                        Valve dysmorphology was associated with increased mesenchyme p
113         Although growth inhibition and gross dysmorphology were limited to the cerebellum, both alpha
114  multiple phenotypes, including craniofacial dysmorphology, which is characterised by midfacial hypop
115 clinical DS features, including craniofacial dysmorphology with a small mandible.
116 isorders represent the first true merging of dysmorphology with biochemical genetics.
117 omy 21 (Down syndrome) results in cerebellar dysmorphology with direct parallels in the Ts65Dn mouse.
118  behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants

 
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