ライフサイエンスコーパス: non-syndromic

1 genes which impair auditory function alone (non-syndromic).

2 he first missense mutation causing isolated, non-syndromic 46,XX testicular/ovotesticular DSD in huma

3 Non-syndromic amelogenesis imperfecta (AI) is a collecti

4 emonstrate related pathophysiology of common non-syndromic and rare syndromic craniosynostoses.

5 e identification of mutated genes that cause non-syndromic and syndromic forms of deafness.

6 us group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutation

7 in RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic iRD.

8 y to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeli

9 Thus, in this small trial of children with non-syndromic ASD and language impairment, treatment wit

10 n together, these results implicate GLRA2 in non-syndromic ASD, unveil a novel role for GLRA2 in syna

11 yndrome (Phelan-McDermid syndrome) and other non-syndromic ASDs.

12 proves verbal communication in children with non-syndromic autism spectrum disorder (ASD) and languag

13 own to date about the etiology of idiopathic non-syndromic autism.

14 disruption of TRPC6, a cation channel, in a non-syndromic autistic individual.

15 sed in OHCs and is responsible for a form of non-syndromic autosomal dominant deafness.

16 hearing-impaired members of Family 1070 with non-syndromic autosomal dominant hearing loss (DFNA4) wh

17 anomalies and severe valve calcification in non-syndromic autosomal-dominant human pedigrees.

18 Human KCNQ4 mutations known as DFNA2 cause non-syndromic, autosomal-dominant, progressive high-freq

19 Non-syndromic AVCDs have been attributed to multifactori

20 e mutations contribute to both syndromic and non-syndromic AVSDs in humans and provide a model that p

21 most frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaur

22 only associated with Down syndrome, although non-syndromic cases also occur.

23 ndromic disease to find genes accounting for non-syndromic cases may prove broadly relevant to unders

24 been shown to underlie a number of familial, non-syndromic cases.

25 causative mutations have been identified in non-syndromic cases.

26 Inherited isolated (non-syndromic) cataract represents a significant proport

27 ar, which could be one factor underlying the non-syndromic character of the deafness caused by mutati

28 h genetic linkage analysis of pedigrees with non-syndromic CHDs.

29 We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence vari

30 4 has been associated with increased risk of non-syndromic CL/P in humans, but the genes and pathways

31 terozygosity for this mutation and sporadic, non-syndromic CL/P in northern Venezuela.

32 a significant overlap between syndromic and non-syndromic CL/P.

33 d in the genetic basis of both syndromic and non-syndromic CL/P.

34 Non-syndromic cleft lip and/or palate (NSCLP) is a commo

35 Non-syndromic cleft lip with or without cleft palate (CL

36 Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL

37 1p22, a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS

38 or MMP and TIMP genes as candidate genes for non-syndromic cleft lip with or without cleft palate (NS

39 Non-syndromic cleft lip with or without cleft palate (NS

40 Non-syndromic cleft lip with or without cleft palate (NS

41 Non-syndromic cleft lip with palate (NSCLP) is the most

42 N-ethyl-N-nitrosourea-induced mouse model of non-syndromic cleft palate (NSCP) that is caused by an i

43 n the MSX1 homeobox gene are associated with non-syndromic cleft palate and tooth agenesis in humans.

44 X22 mutations are also found in around 5% of non-syndromic cleft palate patients.

45 It is a useful genetic model for non-syndromic cleft palate, a common congenital disorder

46 o the cellular and molecular etiology of the non-syndromic clefting associated with Msx1 mutations.

47 nvolved in the pathogenesis of syndromic and non-syndromic clefting.

48 es of a large family with autosomal dominant non-syndromic coloboma.

49 nd out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to t

50 n in FGFR3 is a frequent cause of apparently non-syndromic coronal craniosynostosis.

51 hologue, EFNA4, in three of 81 patients with non-syndromic coronal synostosis.

52 that mutations in human EFNA4 are a cause of non-syndromic coronal synostosis.

53 Non-syndromic craniosynostosis (NSC) is a frequent conge

54 e few articulations that are associated with non-syndromic craniosynostosis conditions have statistic

55 to determine the genetic cause for non-GC-C non-syndromic CSD in 18 patients from 16 unrelated famil

56 e mutations in Tecta cause dominant forms of non-syndromic deafness and a genotype-phenotype correlat

57 e mutation at position 1555, associated with non-syndromic deafness and aminoglycoside-induced deafne

58 2S rRNA has been found to be associated with non-syndromic deafness and aminoglycoside-induced deafne

59 on 1555 associated with maternally inherited non-syndromic deafness and sensitivity to aminoglycoside

60 role in the phenotypic manifestation of the non-syndromic deafness associated with the A1555G mutati

61 transferase (TOMT/LRTOMT) is responsible for non-syndromic deafness DFNB63.

62 for human Usher syndrome type IC and for the non-syndromic deafness disorder DFNB18.

63 By screening families with non-syndromic deafness from China, we have identified tw

64 Over 25 loci involved in non-syndromic deafness have been mapped and mutations in

65 chromosomal locations of about 70 genes for non-syndromic deafness have been mapped, and the genes o

66 rkable total of twenty-two genes involved in non-syndromic deafness in humans have been localized wit

67 'mild' mutations in WFS1 might be a cause of non-syndromic deafness in the general population should

68 that it should be considered a candidate for non-syndromic deafness in the human population.

69 tin gene, which is responsible for recessive non-syndromic deafness in two unrelated families.

70 are responsible for most cases of recessive non-syndromic deafness, accounting for 30-40% of all chi

71 ene disrupt its various isoforms and lead to non-syndromic deafness, blindness and deaf-blindness.

72 ng loss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31.

73 tions at this locus can also cause recessive non-syndromic deafness, we screened 25 Chinese families

74 ) in a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a hom

75 ssive blindness, as well as certain forms of non-syndromic deafness.

76 e associated with aminoglycoside-induced and non-syndromic deafness.

77 discriminator base of tRNA(Ser(UCN))) causes non-syndromic deafness.

78 st alpha connexin gene to be associated with non-syndromic deafness.

79 lead to both recessive and dominant forms of non-syndromic deafness.

80 ne in humans cause Usher syndrome type 1B or non-syndromic deafness.

81 cently reported to be implicated in USH2 and non-syndromic deafness.

82 ra Syndrome (OS) and two patients had severe non-syndromic early-onset epilepsy (NSEOE).

83 en different MMP20 mutations in humans cause non-syndromic enamel malformations, termed amelogenesis

84 o the best of our knowledge, this pattern of non-syndromic, familial tooth agenesis has not been prev

85 glioma has been consistently observed within non-syndromic families.

86 ndelian inherited CTNNB1 mutations can cause non-syndromic FEVR and that FEVR can be a part of the sy

87 hile we recently described four cases of the non-syndromic form of CSD that were caused by dominant a

88 oding connexin31 (Cx31) can cause a dominant non-syndromic form of hearing loss (DFNA2).

89 owever, the genetic cause of the more common non-syndromic forms is unknown.

90 f Rett syndrome, and a Met-knockout model of non-syndromic forms of autism.

91 r 6 (IRF6) are associated with syndromic and non-syndromic forms of cleft lip and palate, consistent

92 the most frequently occurring syndromic and non-syndromic forms of hereditary hearing loss, Pendred

93 study of 55 multiplex families with apparent non-syndromic forms of oral clefts from four distinct po

94 s genes in which mutations may contribute to non-syndromic forms of oral clefts; however, an interact

95 , have Mendelian or teratogenic origins; the non-syndromic forms of orofacial clefts are more common

96 delian variants associated with syndromic or non-syndromic forms of the disease.

97 cid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessi

98 Optic neuropathies may range from non-syndromic genetic entities, to rare syndromic multis

99 imary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three ye

100 positional candidate genes for 18 different non-syndromic hearing disorders.

101 s strains of mice, in contrast, present with non-syndromic hearing impairment due to the effects of m

102 ich a gene for autosomal dominant late-onset non-syndromic hearing impairment is segregating, we have

103 Late-onset non-syndromic hearing impairment is the most common type

104 Previously, a novel autosomal recessive non-syndromic hearing impairment locus DFNB44 was mapped

105 genetic defects that cause severe prelingual non-syndromic hearing impairments.

106 The DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to a

107 The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a

108 mutations reported only in individuals with non-syndromic hearing loss (V480D, V653A and I490L/G497S

109 ical role in the phenotypic manifestation of non-syndromic hearing loss and aminoglycoside toxicity a

110 20 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aquedu

111 s of this gene also cause autosomal dominant non-syndromic hearing loss as a dominant-negative conseq

112 for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromos

113 autosomal-dominant 9), an autosomal-dominant non-syndromic hearing loss disorder.

114 Over 100 non-syndromic hearing loss genes have been identified in

115 main-containing ferlin family protein, cause non-syndromic hearing loss in humans (DFNB9 deafness).

116 Given that most autosomal-dominant non-syndromic hearing loss in humans is caused by this m

117 and Pjvk, both of which are associated with non-syndromic hearing loss in mammals.

118 30 (Cx30) have been linked to syndromic and non-syndromic hearing loss in mice and humans.

119 human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus.

120 ican and one Dutch) with autosomal dominant, non-syndromic hearing loss to have mutations in COL11A2

121 dred with autosomal dominant transmission of non-syndromic hearing loss was clinically studied.

122 ide exposure or any other clinical features (non-syndromic hearing loss).

123 on of inner-ear architecture associated with non-syndromic hearing loss, and suggest that tectorial m

124 c enhancers in which mutations could lead to non-syndromic hearing loss, craniofacial defects or limb

125 forms lead to early-onset autosomal dominant non-syndromic hearing loss, familial thoracic aortic ane

126 nally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pen

127 rrelation in which hypomorphic alleles cause non-syndromic hearing loss, while more severe mutations

128 ) are the major cause of autosomal recessive non-syndromic hearing loss.

129 me, multiple mitochondrial dysfunctions, and non-syndromic hearing loss.

130 n associated with aminoglycoside-induced and non-syndromic hearing loss.

131 previously shown to cause both syndromic and non-syndromic hearing loss.

132 Although non-syndromic hereditary gingival fibromatosis (HGF) is

133 tations in the Myh9 gene have been linked to non-syndromic hereditary hearing impairment DFNA17 as we

134 for the first time that AMTN mutations cause non-syndromic human AI and explores the human phenotype,

135 for the first time that AMBN mutations cause non-syndromic human AI and that mouse models with disrup

136 ks in the Beethoven mouse, a murine model of non-syndromic human deafness caused by a dominant gain-o

137 k (approximately 70%) of genetic deafness is non-syndromic, in which hearing impairment is not associ

138 th motor and sensory dysfunctions as well as non-syndromic intellectual disability in humans.

139 uses a surprisingly common form of sporadic, non-syndromic intellectual disability with autism in hum

140 3 have been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia

141 matic mutations in PTPN11 account for 34% of non-syndromic JMML.

142 ly39dup and p.Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a child

143 The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structur

144 In humans, over 150 non-syndromic loci have been identified, and there are m

145 Non-syndromic low frequency sensorineural hearing loss (

146 128 Caucasian and 61 Hispanic patients with non-syndromic lumbar-sacral myelomeningocele.

147 ported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguine

148 MECP2 mutations also cause non-syndromic mental retardation in males and females, a

149 cessive CHX10 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and

150 To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynos

151 Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many

152 component, the genetic aetiology leading to non-syndromic MVP has remained elusive.

153 a large multigenerational family segregating non-syndromic MVP underwent capture sequencing of the li

154 annels by certain mutations may underlie the non-syndromic nature of the deafness.

155 Non-syndromic (NS) cleft lip with or without cleft palat

156 5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respective

157 g a cohort of 145 unrelated individuals with non-syndromic oligodontia, we identified three additiona

158 ldren of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of E

159 (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the mo

160 enced these enhancer elements in a cohort of non-syndromic patients with isolated atrial and/or ventr

161 e previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity

162 n and is frequently mutated in syndromic and non-syndromic photoreceptor degeneration.

163 Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANC

164 ipated to have relevance for more common and non-syndromic presentations of selected aspects of the M

165 cted members were diagnosed with early onset non-syndromic progressive retinal degeneration and the p

166 Non-syndromic recessive deafness (NSRD) is the most comm

167 omain-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian fa

168 One locus for non-syndromic recessive deafness, DFNB2, has been locali

169 Here we report that non-syndromic recessive hearing loss (DFNB23) is caused

170 s should also be considered in subjects with non-syndromic retinal dystrophy.

171 ong which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent fin

172 me sequencing in an individual affected with non-syndromic RP revealed two plausibly disease-causing

173 To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptib

174 th an autosomal dominant form of progressive non-syndromic sensorineural hearing loss.

175 tains a gene, DFNBL, for autosomal recessive non-syndromic sensorineural hearing loss.

176 were also found in three autosomal recessive non-syndromic sensorineuronal deafness pedigrees, geneti

177 , little is known about the genetic basis of non-syndromic (single phenotypic disease) deafness.

178 a substantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating gen

179 Non-syndromic thoracic aortic aneurysms and dissections

180 K1 was sequenced in a discovery cohort of 93 non-syndromic TOF probands to identify rare variants.

181 ranscription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects

182 Age-related hearing loss (Ahl) is a non-syndromic trait in common inbred strains of mice ass

183 tly, FH mutations have been detected in some non-syndromic UL.

184 in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS

185 nes and loci for the more common and complex non-syndromic variants.

186 th dominantly inherited hearing loss, either non-syndromic (W44S, R75W) or with various skin disorder

187 The majority are non-syndromic where CL/P occurs in isolation of other ph

188 Non-syndromic X-linked deafness is a rare form of geneti

189 -of-function mutations in PAK3 contribute to non-syndromic X-linked intellectual disability (NS-XLID)

190 Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized

191 FRAXE, the most common form of non-syndromic X-linked mental retardation, is caused by