ライフサイエンスコーパス: dysmorphic

1 he expected Mendelian frequency and were non-dysmorphic.

2 delivery of an inhibitor results in a highly dysmorphic AER, reduction in overall limb size, loss of

3 omplex and characterized by inflammation and dysmorphic airspaces and vasculature.

4 ions on membrane properties and the profound dysmorphic and cognitive abnormalities associated with g

5 r defects in coronary development, including dysmorphic and distended vessels along the atrioventricu

6 IPF patients exhibit marked accumulation of dysmorphic and dysfunctional mitochondria.

7 Morphant hearts were hypoplastic and dysmorphic and exhibited significantly reduced ventricul

8 rms in the absence of the endocardium but is dysmorphic and exhibits a weak contractility.

9 e loss of fertility associated with immobile dysmorphic and fewer sperm cells after 5 months of age.

10 morphologically intact connecting cilia but dysmorphic and misoriented outer segment (OS) discs, at

11 anterior pituitary gland appears bifurcated, dysmorphic and occasionally ectopically misplaced in the

12 ons of the stratum corneum, characterized by dysmorphic and pleomorphic corneocytes and the absence o

13 n carriers, the most prominent features were dysmorphic and thicker corpora callosa compared with fam

14 In familial cases, the dysmorphic and/or neurodegenerative components of the ph

15 patopancreatic ductal epithelium is severely dysmorphic, and cells of the hepatopancreatic ductal sys

16 s, and that morphants exhibit diminished and dysmorphic arch cartilage elements due to reductions in

17 Dysmorphic basal ganglia are the hallmark of tubulinopat

18 Dysmorphic basal ganglia with an abnormal internal capsu

19 ks after birth, mTOR-deficient islets became dysmorphic, beta-cell maturation and function were impai

20 The dysmorphic capillaries were frequently in the interior o

21 ce at 12 weeks contained a high frequency of dysmorphic cells, including cells with an aberrant nucle

22 as evident by PECAM staining, accompanied by dysmorphic changes.

23 d levels of Sef, with 13% exhibiting grossly dysmorphic cochlear nuclei and 26% showing decreased amo

24 ales mated to BW males produce overgrown but dysmorphic conceptuses.

25 ive series of 728 patients who completed the Dysmorphic Concern Questionnaire in an oculofacial surge

26 Obsessive-Compulsive Inventory-Revised, the Dysmorphic Concern Questionnaire, the Hoarding Rating Sc

27 disorders, and no physical, neurological, or dysmorphic conditions co-occurred with psychiatric sympt

28 The Deltaace2 mutant had dysmorphic conidiophores, reduced conidia production and

29 found with cytomegaly in isolated groups of dysmorphic cortical neurons.

30 nucleus and cytoplasm and the appearance of dysmorphic dendrites, predicted the onset and severity o

31 ritic spine density and prevent formation of dysmorphic dendritic spines.

32 ulation as a novel mechanism contributing to dysmorphic dendritogenesis associated with heritable and

33 ta have indicated that individuals with body dysmorphic disorder (BDD) have high rates of suicidal id

34 Body dysmorphic disorder (BDD) is a psychiatric disorder in w

35 Body dysmorphic disorder (BDD) is a severe psychiatric condit

36 Body dysmorphic disorder (BDD) is characterized by preoccupat

37 Research on the pharmacotherapy of body dysmorphic disorder (BDD), a common and often disabling

38 This study investigated the course of body dysmorphic disorder (BDD), a relatively common and sever

39 Obsessive Compulsive Scale Modified for Body Dysmorphic Disorder (BDD-YBOCS) (the primary outcome mea

40 Body dysmorphic disorder (preoccupation with an imagined or s

41 notes of 100 consecutive patients with body dysmorphic disorder and compared with the same informati

42 ve than desipramine in the treatment of body dysmorphic disorder and is effective even among those pa

43 hypothesized that because patients with body dysmorphic disorder are preoccupied with their appearanc

44 timated the overall point prevalence of body dysmorphic disorder as 0.7% in women in this age range i

45 Twenty percent of the patients with body dysmorphic disorder had an occupation or education in ar

46 The prevalence of body dysmorphic disorder in an oculofacial surgical setting m

47 Muscle dysmorphia is a form of body dysmorphic disorder in which individuals develop a patho

48 Body dysmorphic disorder is common, distressing, and often se

49 eir estimate of the point prevalence of body dysmorphic disorder is consistent with data from a commu

50 Onset of body dysmorphic disorder is usually gradual during adolescenc

51 Adults (N=100) with DSM-IV body dysmorphic disorder received open-label escitalopram for

52 Body dysmorphic disorder severity (in both the intent-to-trea

53 ere no significant group differences in body dysmorphic disorder severity or insight, depressive symp

54 Among escitalopram-treated subjects, body dysmorphic disorder severity significantly decreased ove

55 Body dysmorphic disorder severity significantly improved duri

56 e measures included specific ratings of body dysmorphic disorder severity, delusionality, and functio

57 o desipramine in the acute treatment of body dysmorphic disorder symptoms as measured by assessment o

58 sible explanation is that patients with body dysmorphic disorder tend to have an interest in aestheti

59 Patients screening positively for body dysmorphic disorder tend to have higher postoperative pa

60 The authors found that the presence of body dysmorphic disorder was linked to the presence of major

61 The presence of body dysmorphic disorder was significantly associated with th

62 Rates and diagnostic correlates of body dysmorphic disorder were examined by using data from the

63 amined the prevalence and correlates of body dysmorphic disorder, a debilitating and chronic conditio

64 ulsive disorder (OCD), 20 patients with body dysmorphic disorder, and 10 patients with mood disorder

65 euptake inhibitors may be effective for body dysmorphic disorder, to date no controlled treatment stu

66 m the first relapse prevention study in body dysmorphic disorder.

67 >/=9 was used as a positive screen for body dysmorphic disorder.

68 enesis genes have been defined in multiorgan dysmorphic disorders in which renal dysplasia can featur

69 ung PINK1-deficient mice developed similarly dysmorphic, dysfunctional mitochondria in the AECIIs and

70 arval development, the Op is fused along the dysmorphic edge to adjacent dermal bones.

71 1) Renal remission (defined as < 10 dysmorphic erythrocytes per high-power field, the absenc

72 ydactylous digits are all similar, short and dysmorphic, even though endogenous 5'Hoxd genes are broa

73 ng to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycysti

74 f low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, pro

75 re, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, microc

76 al defects of the spine, brachydactyly and a dysmorphic facial appearance.

77 ented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, s

78 features of the 9p-deletion syndrome include dysmorphic facial features (trigonocephaly, midface hypo

79 ifferentiated by the presence of significant dysmorphic facial features and a more severe grade of li

80 ility, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentati

81 linked to HPE and to a characteristic set of dysmorphic facial features in humans.

82 Mildly dysmorphic facial features including hypotelorism, long

83 brachycephaly, congenital heart defects, and dysmorphic facial features with hypertelorism, synophrys

84 ilies affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvem

85 ois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.

86 here include structural brain malformations, dysmorphic facial features, and neonatal polycythemia.

87 rome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-ta

88 tiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth d

89 lization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic

90 autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature

91 Although all individuals had at least mild dysmorphic facial features, there was no characteristic

92 tinal, and growth problems as well as common dysmorphic facial features.

93 , feeding difficulties, deafness, and subtle dysmorphic facial features.

94 lity, global developmental delay, and mildly dysmorphic facial features.

95 d vertebrae, abnormal spinal curvatures, and dysmorphic facial/calvarial bones, similar to the human

96 lcification, and an overgrowth disorder with dysmorphic facies and psychosis, none of which overlaps

97 cribe five affected individuals with similar dysmorphic facies, and three of them had either complete

98 Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalc

99 tic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retarda

100 6/6), refractory seizures (5/6), and similar dysmorphic features (3/6), each harboring a de novo muta

101 y (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10).

102 frequency of periodic paralysis was 64% and dysmorphic features 78%.

103 Patient 3 is a 2-year-old girl with mild dysmorphic features and an interstitial deletion del(4)(

104 autosomal dominant disease characterized by dysmorphic features and cardiac abnormalities, with freq

105 ental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies.

106 om neonatal lethality to the relatively mild dysmorphic features and developmental delay found in ind

107 yndrome (radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties), whose ce

108 d by congenital cataracts, dental anomalies, dysmorphic features and mental retardation.

109 isability had clinical findings of seizures, dysmorphic features and microcephaly, but not statistica

110 Since 4q duplications usually manifest dysmorphic features and severe growth and mental retarda

111 cterized by overgrowth, learning disability, dysmorphic features and variable additional features.

112 Furthermore, the dysmorphic features of affected family members are consi

113 ssociation with developmental abnormalities, dysmorphic features or extra-intestinal tumours.

114 : biochemical abnormalities, encephalopathy, dysmorphic features or multiple malformations, neuromusc

115 ntal delay, hypospadias, inguinal hernia and dysmorphic features while, the second patient presented

116 ellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variabl

117 The patients exhibited growth restriction, dysmorphic features, and developmental delays.

118 on c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral

119 he human radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome,

120 congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels suffer f

121 rge syndrome (DGS) or velocardiofacial (VCF) dysmorphic features, and more common in tetralogy of Fal

122 cterized by congenital cardiopathies, facial dysmorphic features, and short stature.

123 in a child with CHI and CH with craniofacial dysmorphic features, choroidal coloboma and endoderm-der

124 ed by neonatal hypotonia, childhood obesity, dysmorphic features, hypogonadism, mental retardation, a

125 Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mand

126 loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlati

127 s on chromosome 7q11.23, is characterized by dysmorphic features, mental retardation or learning diff

128 He also had dysmorphic features, mental retardation, and cafe-au-lai

129 opmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellec

130 She presents with milder dysmorphic features, recognized by stereophotogrammetry

131 (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Caroli

132 d intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and de

133 is a developmental disorder with distinctive dysmorphic features, specific neurobehavioral attributes

134 microcephaly, hearing loss, and overlapping dysmorphic features.

135 ay, hypotonia, speech impairments, and minor dysmorphic features.

136 s in individuals with mental retardation and dysmorphic features.

137 neuronal migration defects and craniofacial dysmorphic features.

138 developmental delay, growth retardation, and dysmorphic features.

139 There were no dysmorphic features.

140 periodic paralysis, cardiac arrhythmias, and dysmorphic features.

141 bolism that cause cerebral malformations and dysmorphic features.

142 pre- and postnatal growth failure and other dysmorphic features.

143 tor retardation, seizures, growth delay, and dysmorphic features.

144 with developmental delay, macrocephaly, and dysmorphic features.

145 lopmental delay, intellectual disability and dysmorphic features.

146 atures of severe intellectual disability and dysmorphic features.

147 sability, a cleft palate, short stature, and dysmorphic features.

148 with seven members affected with ID and mild dysmorphic features.

149 neuploidies in multiple tissues and variable dysmorphic features.

150 eminal anaesthesia, towering skull shape and dysmorphic features.

151 bility syndrome associated with seizures and dysmorphic features.

152 atients presented with characteristic facial dysmorphic features.

153 X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro)

154 ns, and the distal aortic sac became grossly dysmorphic, forming a pair of bilateral, highly dilated

155 hyperplasia, dermal inflammatory infiltrate, dysmorphic hair follicles, and alopecia in perinatal mic

156 rt and one to the formation of a diminutive, dysmorphic heart.

157 zebrafish embryos lacking hrT function have dysmorphic hearts and an absence of blood circulation.

158 ryonic development causes neurodegeneration, dysmorphic hearts, and reduced motility as a result of i

159 Rescued embryos develop dysmorphic hearts, pericardial edema, few erythrocytes,

160 was immediately accompanied by enlarged and dysmorphic hepatocytes in the absence of significant cel

161 genetic deletion of RRP17 in mice results in dysmorphic LDCVs, impaired ANP secretion, and hypertensi

162 hypothesized that the origins of the larger, dysmorphic mandible observed in adult Ts1Rhr mice develo

163 is based on typical phenotypic features, the dysmorphic manifestations can be subtle and therefore ov

164 Such OSs consist of dysmorphic membranous structures devoid of lamellae.

165 ether the patients had insight or held their dysmorphic misperception with delusional intensity.

166 n was associated with retention of enlarged, dysmorphic mitochondria and paralleled by reduced muscle

167 ries, extensive foot process effacement, and dysmorphic mitochondria in podocytes.

168 f diabetic mice, apoptotic tubular cells and dysmorphic mitochondria were observed, Bcl-2 expression

169 ted with altered sperm motility patterns and dysmorphic mitochondrial structure in sperm.

170 were completely innervated, they also showed dysmorphic nerve terminals.

171 ritic changes ensue, leading to increasingly dysmorphic neurites over the next days to weeks.

172 fuscin accumulation was observed in abnormal dysmorphic neurones in 6 cases, but not in seven FCD typ

173 Abnormal dysmorphic neurones on proteomics analysis were comparab

174 Many dysmorphic neurons and giant cells in tubers were staine

175 ildren with pathogenic CNVs were noted to be dysmorphic on clinical genetics examination.

176 cal abnormalities of the inner ear, and also dysmorphic or missing kidneys.

177 Dysmorphic orthotopic otic vesicles or immature otic-lik

178 In Rds/Nrl double-null mice, S-cones form dysmorphic outer segments that lack lamellae and fail to

179 The addition of PEDF prevented the dysmorphic photoreceptor changes induced by RPE removal.

180 gressive retinal degenerations in humans and dysmorphic photoreceptors in murine models if defective

181 thin an altered mesenchymal environment in a dysmorphic proboscis.

182 rmal pulmonary vasculature formation and the dysmorphic pulmonary vasculature development associated

183 that have abnormal alveolar development and dysmorphic pulmonary vasculature.

184 age with at least a 50% reduction in urinary dysmorphic red cells (57% versus 0%), and 4) the percent

185 Adult Lyn(up/up) mice were anemic, with dysmorphic red cells (spherocyte-like, acanthocytes) in

186 The dysmorphic retina then slowly thinned over decades.

187 protein response (UPR) pathway and swollen, dysmorphic rough-ER.

188 Unexpectedly, the patient was also dysmorphic; showed severe growth failure, microcephaly,

189 ted by the presence of Turner-characteristic dysmorphic skeletal features in patients with SHOX nonse

190 rosomal membrane invaginations, and produced dysmorphic sperm with reduced ability to penetrate zona

191 gical analysis of mutant inner ears revealed dysmorphic stereocilia and progressive hair cell degener

192 Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynos

193 of the molecular basis of a number of human dysmorphic syndromes involving abnormalities of craniofa

194 Other associations with metabolic disease, dysmorphic syndromes, and neuromuscular disease are impo

195 -box genes are responsible for developmental dysmorphic syndromes, and several T-box genes have been

196 Apart from dysmorphic syndromes, pathogenic yields were highest for

197 several of the mutations identified in these dysmorphic syndromes.

198 dysplasia and intractable epilepsy, and one dysmorphic term infant with associated hydrocephalus and

199 educed size of the mutant heart is caused by dysmorphic ventricular cardiomyocytes and an increase in

200 Surviving VENs were often dysmorphic, with pathological tau protein accumulation i