ライフサイエンスコーパス: cleft lip

1 BMI change was not related to the risk of cleft lip.

2 tin cre transgenic line resulted in isolated cleft lip.

3 that disruption of this sequence results in cleft lip.

4 been identified in both mice and humans with cleft lip.

5 ed by persistence of the epithelial seam and cleft lip.

6 tches in the upper beak or the equivalent of cleft lip.

7 outgrowth, epithelial seam persistence, and cleft lip.

8 Cases were infants with isolated defects--cleft lip alone (n = 334), cleft lip and palate (n = 494

9 haled steroids were confirmed (cleft palate, cleft lip, anal atresia, and hypospadias).

10 beta2-agonists were found for spina bifida, cleft lip, anal atresia, severe congenital heart defects

11 ndwork for understanding the causes of human cleft lip and analyzing the mechanism of action of growt

12 the result is orofacial clefting, including cleft lip and cleft palate (CL/P).

13 Cleft lip and cleft palate (CLP) are common disorders th

14 Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thy

15 Because cleft lip and cleft palate do not frequently co-aggregat

16 Wnt9b mutations are associated with cleft lip and cleft palate in mice; however, the cause o

17 features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings.

18 the molecular pathogenesis of the bilateral cleft lip and cleft palate that results from mutation of

19 Among individuals with isolated cleft lip and cleft palate, increased risks of intellect

20 t between the facial processes that leads to cleft lip and cleft palate.

21 surgical outcome assessment in patients with cleft lip and for the rehabilitation of patients with fa

22 Cleft lip and other congenital anomalies are also linked

23 Cleft lip and palate (CL/P) is a common disfiguring birt

24 also observed wider de novo deletions among cleft lip and palate (CLP) cases than seen among cleft p

25 d MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).

26 isolated defects--cleft lip alone (n = 334), cleft lip and palate (n = 494), or cleft palate alone (n

27 Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect

28 shortened fifth fingers (one), microtia with cleft lip and palate (one), microtia alone (one), and ne

29 amilies with autosomal dominant nonsyndromic cleft lip and palate and 3 families with autosomal domin

30 We studied a patient with isolated cleft lip and palate and a balanced chromosomal transloc

31 syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for approximately 2% o

32 tudies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities.

33 ed from MMF to SRL during late pregnancy had cleft lip and palate and microtia) and three SA.

34 ere craniofacial defects including bilateral cleft lip and palate and tongue agenesis, following the

35 ate and accounts for approximately 2% of all cleft lip and palate cases.

36 Seventeen percent of those with cleft lip and palate had another defect compared with 9%

37 y drain saliva, and patients with the common cleft lip and palate have a higher prevalence of dental

38 ions (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004).

39 signaling pathway have been associated with cleft lip and palate in humans and mice, the mechanisms

40 Cleft lip and palate is a common human birth defect, and

41 most recent advances in the understanding of cleft lip and palate occurrence.

42 15 cleft lip and palate organisations totalled 26% of both

43 Recently, we identified a family in which cleft lip and palate segregated in two of three generati

44 surgery such as ophthalmology (88, 28%) and cleft lip and palate surgery (70, 22%) were also frequen

45 s are directed at ophthalmology, followed by cleft lip and palate surgery.

46 Cleft lip and palate syndromes are among the most common

47 Cleft lip and palate syndromes in humans are associated

48 For boys, the risk was greater for cleft lip and palate than for cleft lip only (odds ratio

49 20 patients with complete unilateral cleft lip and palate were prospectively recruited.

50 he disorder is an autosomal dominant form of cleft lip and palate with lip pits, and is the most comm

51 a positive dose response among infants with cleft lip and palate+ (for light smokers, odds ratio (OR

52 ditional malformations: cleft lip+ (n = 58), cleft lip and palate+ (n = 140), or cleft palate+ (n = 2

53 tations in several candidate genes may cause cleft lip and palate, but definitive evidence regarding

54 been shown to be an important contributor to cleft lip and palate, but the functional variant leading

55 s are candidate genes for genetic disorders (cleft lip and palate, certain forms of cancer) or solute

56 ed with syndromic and non-syndromic forms of cleft lip and palate, consistent with a role for Irf6 in

57 The proband presented with bilateral cleft lip and palate, malformed auricles, and bilateral

58 es a constellation of abnormalities, such as cleft lip and palate, pigmentary retinopathy, and multip

59 petitive urinary tract infections, bilateral cleft lip and palate, retinopathy, and gut malrotation.

60 involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome.

61 The risk of cleft lip only, but not of cleft lip and palate, was increased for twins (odds rati

62 ily of three affected siblings with isolated cleft lip and palate, we discovered that they share a no

63 eal pterygium syndrome, 2 syndromic forms of cleft lip and palate.

64 nomalies and facial dysmorphology, including cleft lip and palate.

65 he FGF family has also been shown to lead to cleft lip and palate.

66 on the current knowledge of the etiology of cleft lip and palate.

67 variation in IRF6 confers risk for isolated cleft lip and palate.

68 d to improve nasal symmetry in patients with cleft lip and palate.

69 th prolonged treatment trajectories, such as cleft lip and palate.

70 rimary cilium, and these patients often have cleft lip and palate.

71 splicing regulatory protein (Esrp1) develop cleft lip and palate.

72 ome (VWS), the most common syndromic form of cleft lip and palate.

73 ophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate.

74 detected in the DNA of 74 unrelated cases of cleft lip and/or cleft palate; no variants associated si

75 Cleft lip and/or palate (CL/P) are common structural bir

76 Cleft lip and/or palate (CL/P), the most frequent human

77 lex aetiology and the variable penetrance of cleft lip and/or palate (CL/P), understanding the molecu

78 Patients with cleft lip and/or palate (CLP), who undergo numerous medi

79 Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth de

80 Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital m

81 Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifa

82 l and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage anal

83 tes the genetic contribution to nonsyndromic cleft lip and/or palate through the analysis of family p

84 by bilateral choanal atresia, hearing loss, cleft lip and/or palate, and other craniofacial dysmorph

85 r because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dys

86 including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disa

87 NCC knockout embryos showed fully penetrant cleft lips and short snouts.

88 l tube defects to neurocristopathies such as cleft-lip and cleft-palate, cardiac septal defects, and

89 ults obtained using phenytoin (which induces cleft lip) and 6-aminonicotinamide (which induces cleft

90 at govern lip morphogenesis nor the cause of cleft lip are well understood.

91 The cleft lip area, bilateral nostril areas, and the nostril

92 Twenty-eight fetuses had a cleft lip at birth.

93 milies with NSCL/P, in particular those with cleft lip but not cleft palate.

94 others of limb deficiency, cleft palate, and cleft lip cases were, respectively, 1.8 (95% CI: 1.1, 3.

95 cases than seen among cleft palate (CP) and cleft lip (CL) cases.

96 s who consumed alcohol tended to be near to (cleft lip, cleft lip with cleft palate) or to exceed (cl

97 Orofacial clefts (cleft lip, cleft palate) are among the most common of al

98 tralogy of Fallot, coarctation of the aorta, cleft lip, cleft palate, anorectal atresia/stenosis, and

99 Cases with a cleft lip, cleft palate, or both and unaffected controls

100 We apply our method to data on cleft lip/cleft palate and schizophrenia.

101 uced by the method of Farrall and Holder for cleft lip/cleft palate data is not consistent with the p

102 ratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.

103 t disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, syndactyly and ora

104 Cleft lip defects are usually regarded as a single entit

105 rter snout, expansion of the facial midline, cleft lip, extensive exencephaly, and microphthalmia or

106 uals with isolated cleft palate (ie, without cleft lip) had increased mortality (hazard ratio, 3.4; 9

107 interesting because the occurrence of fetal cleft lip has been demonstrated to increase with materna

108 f a large multi-ethnic human population with cleft lip identified clusters of single-nucleotide polym

109 osome 4, inv(4)(p13q21) that segregates with cleft lip in a two-generation family.

110 Cleft lip is one of the most common human birth defects,

111 l defects, middle-ear defects, cleft palate, cleft lip, limb defects, limb-reduction defects, polydac

112 th clefts plus (+) additional malformations: cleft lip+ (n = 58), cleft lip and palate+ (n = 140), or

113 ct of the A allele, with a relative risk for cleft lip of 1.68 for the AG genotype and 2.40 for the A

114 , 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).

115 as greater for cleft lip and palate than for cleft lip only (odds ratio=2.4 vs. 1.8, p<0.001 for diff

116 They assessed the distribution of cleft lip only and cleft lip with cleft palate by covari

117 ce: Young adults who were born with isolated cleft lip only did not differ significantly from unaffec

118 With likelihood ratio test analysis, "cleft lip only" showed association with MSX1 (p = 0.04)

119 The risk of cleft lip only, but not of cleft lip and palate, was inc

120 nother defect compared with 9% of those with cleft lip only.

121 t lip with cleft palate and 1,122 cases with cleft lip only.

122 ity or mortality among persons with isolated cleft lip only.

123 ), hypospadias (0.6%), hydrocephalus (0.6%), cleft lip or palate (0%), and obstetric fistula (0%).

124 Cleft lip or palate (or the two in combination) is a com

125 or 12 percent of the genetic contribution to cleft lip or palate and tripled the risk of recurrence i

126 contribution of variants in single genes to cleft lip or palate is an important consideration in gen

127 Median CERs of cleft lip or palate repair ($47.74 per DALY), general su

128 control analyses, and determined the risk of cleft lip or palate that is associated with genetic vari

129 escended testes, hypospadias, hydrocephalus, cleft lip or palate, and club foot.

130 ts, and is the most common syndromic form of cleft lip or palate.

131 enesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to e

132 Patients with cleft lip/palate (CLP) have been reported, in some studi

133 ith both syndromic and nonsyndromic forms of cleft lip/palate (CLP).

134 hem, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome is caused by single poin

135 from ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome patients with p63 mutati

136 cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC) syndrome, comprising SHFM.

137 ns found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and

138 example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndr

139 yposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIH

140 dence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate

141 Patients with repaired cleft lip/palate had fewer mean movements than control i

142 Recent studies of cleft lip/palate have shown the association of genes inv

143 association of PRSS35 and SNAP91 genes with cleft lip/palate in the case-control cohort and in Cauca

144 Cleft lip/palate is a defect of craniofacial development

145 Since cleft lip/palate is also associated with both tooth agen

146 p revision surgery in patients with repaired cleft lip/palate is based on surgeons' subjective evalua

147 are linked to mental retardation (MR) and a cleft lip/palate phenotype.

148 To investigate if genes associated with cleft lip/palate were also associated with oral cancer,

149 escended testes, hypospadias, hydrocephalus, cleft lip/palate, and clubfoot) was determined by physic

150 lts in defects analogous to hypotelorism and cleft lip/palate, characteristics of the mild forms of h

151 urgically treatable conditions (breast mass, cleft lip/palate, club foot, hernia or hydrocele [adult

152 e been associated with cognitive defects and cleft lip/palate, its role in mammalian development and

153 representing 14 specialties (ophthalmology, cleft lip/palate, multidisciplinary teams, orthopaedics,

154 fferent surgical specialties (ophthalmology, cleft lip/palate, multidisciplinary teams, orthopaedics,

155 syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225

156 has been suggested as a candidate region for cleft lip/palate.

157 th several types of cancer and recently with cleft lip/palate.

158 this disorder; however, our understanding of cleft lip pathogenesis remains incomplete.

159 with the cellular mechanism demonstrated for cleft lip pathogenesis, we found that either SHH ligand

160 us mutants exhibit an incompletely penetrant cleft lip phenotype.

161 of the defect, epidemiologic assessments of cleft lip should, when possible, include separate analys

162 tributes to the etiology and pathogenesis of cleft lip through antagonistic interactions with other g

163 The location of the cleft lip was correctly identified in all fetuses with 3

164 Cleft lip, which results from impaired facial process gr

165 th cleft lip who had revision, patients with cleft lip who did not, and non-cleft control individuals

166 d clinical trial that included patients with cleft lip who had revision, patients with cleft lip who

167 ear two genes not previously associated with cleft lip with and without cleft palate (MAFB, most sign

168 e used in a genome-wide association study of cleft lip with and without cleft palate.

169 GI, the authors identified associations with cleft lip with cleft palate (aOR = 1.23) and anorectal a

170 een 1967 and 1998, there were 1,572 cases of cleft lip with cleft palate and 1,122 cases with cleft l

171 essed the distribution of cleft lip only and cleft lip with cleft palate by covariate.

172 Although cleft lip with cleft palate may simply represent a more

173 Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types.

174 med alcohol tended to be near to (cleft lip, cleft lip with cleft palate) or to exceed (cleft palate)

175 Wnt/beta-catenin signaling pathway, leads to cleft lip with cleft palate.

176 2%), encephalocele (83%), cleft palate (0%), cleft lip with or without cleft palate (14%), omphalocel

177 hree or more occasions: odds ratio = 3.2 for cleft lip with or without cleft palate (95% confidence i

178 vitamins or liver consumption would decrease cleft lip with or without cleft palate (CL +/- P) risk a

179 udies suggest that the risks of nonsyndromic cleft lip with or without cleft palate (CL+/-P) and isol

180 tudies suggest that the risk of nonsyndromic cleft lip with or without cleft palate (CL+/-P) and isol

181 g mutations by screening 33 individuals with cleft lip with or without cleft palate (CL/P) and 19 ind

182 Nonsyndromic cleft lip with or without cleft palate (CL/P) and nonsyn

183 de linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q3

184 Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a commo

185 Cleft lip with or without cleft palate (CL/P) is a commo

186 Non-syndromic (NS) cleft lip with or without cleft palate (CL/P) is a commo

187 Previous work suggested that cleft lip with or without cleft palate (CL/P) is genetic

188 Cleft lip with or without cleft palate (CL/P) is one of

189 a gene (TGFA) polymorphisms with the risk of cleft lip with or without cleft palate (CL/P) or cleft p

190 authors genotyped 244 infants with isolated cleft lip with or without cleft palate (CL/P), 99 with i

191 l clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among

192 Non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530

193 f delivering infants with cleft palate (CP), cleft lip with or without cleft palate (CLP), conotrunca

194 increased risk of anencephaly, spina bifida, cleft lip with or without cleft palate (CLP), or cleft p

195 lefts (n = 303), cleft palate (n = 108), and cleft lip with or without cleft palate (n = 195).

196 identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/P).

197 ndidate gene in the etiology of nonsyndromic cleft lip with or without cleft palate (NS-CL/P) and of

198 n implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in popul

199 Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among

200 Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one o

201 Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P) is stron

202 veral genetic risk variants for nonsyndromic cleft lip with or without cleft palate (NSCL/P).

203 P genes as candidate genes for non-syndromic cleft lip with or without cleft palate (NSCL/P).

204 Non-syndromic cleft lip with or without cleft palate (NSCLP) is a comm

205 Non-syndromic cleft lip with or without cleft palate (NSCLP) results f

206 ing) were more likely to have an infant with cleft lip with or without cleft palate (odds ratio = 2.2

207 separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft pal

208 Cleft lip with or without cleft palate is a common birth

209 Cleft lip with or without cleft palate is a common birth

210 Cleft lip with or without cleft palate is the most commo

211 rnal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1

212 .7), cleft palate, 0.9 (95% CI 0.5-1.6), and cleft lip with or without cleft palate, 1.3 (95% CI 0.8-

213 A total of 305 liveborn infants with cleft lip with or without cleft palate, 123 with cleft p

214 Participants were 377 infants with cleft lip with or without cleft palate, 196 with cleft p

215 Eight case groups were included: cleft lip with or without cleft palate, cleft palate onl

216 Distinguishing characteristics include cleft lip with or without cleft palate, isolated cleft p

217 common birth defects, including hypospadias, cleft lip with or without cleft palate, or hydrocephalus

218 toward understanding the genetic etiology of cleft lip with or without cleft palate, relatively littl

219 d into two groups, isolated cleft palate and cleft lip with or without cleft palate, representing a h

220 ng causal genes for isolated or nonsyndromic cleft lip with or without cleft palate.

221 Cleft lip with or without palate (CLP) and isolated clef

222 Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-ph

223 alysis, cleft lip with/without cleft palate, cleft lip with palate plus cleft palate only, and all da

224 Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsynd

225 h transmission disequilibrium test analysis, cleft lip with/without cleft palate, cleft lip with pala

226 Cleft lip, with or without cleft palate (CL/P), is one o

227 sociated with IRF6 are major contributors to cleft lip, with or without cleft palate.