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 The continuum between non-syndromic and syndromic monogenic obesity, with evid

9 ence suggest genetic aetiology, most ARM are non-syndromic and their causal genetic mechanisms and no

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

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

12 uld improve diagnostic label accuracy in the non-syndromic ASD population and paves the way for perso

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

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

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

16 genes were enriched for genes implicated in non-syndromic autism spectrum disorder (ASD) and were di

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

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

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

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

21 Mutations in the CABP2 gene underlie non-syndromic autosomal recessive hearing loss DFNB93.

22 Ildr1(w-/-)) mouse, a model of human DFNB42, non-syndromic autosomal recessive hereditary hearing los

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

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

25 Non-syndromic AVCDs have been attributed to multifactori

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

27 d SLC12A2 variants in three individuals with non-syndromic bilateral sensorineural hearing loss and v

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

29 tion, which is found in 90% of syndromic and non-syndromic capillary malformations (CM), respond to i

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

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

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

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

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

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

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

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

38 4 has been associated with increased risk of non-syndromic CL/P in humans, but the genes and pathways

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

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

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

42 Non-syndromic cleft is often non-familial in nature and

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

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

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

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

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

48 1p22, a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS

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

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

51 Our sample included 814 non-syndromic cleft lip with or without palate (NSCL/P),

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

53 cleft cases, focused on subtypes other than non-syndromic cleft lip with/without cleft palate, or in

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

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

56 eft lip with or without palate (NSCL/P), 205 non-syndromic cleft palate only (NSCPO), and 2150 unrela

57 ), CASC20 (Pierre Robin Sequence) and CHRM2 (non-syndromic cleft palate only).

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

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

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

61 al CNV-associated gene losses likely driving non-syndromic clefting phenotypes.

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

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

64 (DoSM) are a diverse group of syndromic and non-syndromic conditions caused by mosaic variants in ge

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

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

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

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

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

70 Single-suture non-syndromic craniosynostosis (NSC) is the most common

71 Lambdoid craniosynostosis (LC) is a rare non-syndromic craniosynostosis characterised by fusion o

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

73 2, a locus also known to cause syndromic and non-syndromic craniosynostosis.

74 ter variant in HSCB in a female patient with non-syndromic CSA.

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

76 or the first time, the accurate detection of non-syndromic cyanotic CHD using maternal salivary metab

77 AI), for the prenatal detection of isolated, non-syndromic cyanotic CHD.

78 rate that in male mice which model recessive non-syndromic deafness (DFNB6), inactivation of Tmie in

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

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

81 2S rRNA has been found to be associated with non-syndromic deafness and aminoglycoside-induced deafne

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

105 s disorder can be classified as syndromic or non-syndromic depending on the presence or absence of ad

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

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

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

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

110 bled us to distinguish between syndromic and non-syndromic fetal anomalies (eg, congenital heart dise

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

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

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

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

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

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

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

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

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

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

121 thways have been identified in syndromic and non-syndromic forms of PLE.

122 associated with OCA including syndromic and non-syndromic forms of the condition.

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

124 retinal degeneration, in both syndromic and non-syndromic forms.

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

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

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

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

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

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

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

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

133 genes have been identified to link to human non-syndromic hearing impairment.

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

135 ne Australian family with autosomal dominant non-syndromic hearing loss (ADNSHL).

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

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

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

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

140 20 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aquedu

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

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

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

144 family with post-lingual autosomal dominant non-syndromic hearing loss from southern China.

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

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

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

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

149 30 (Cx30) have been linked to syndromic and non-syndromic hearing loss in mice and humans.

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

151 and congenital heart disease p.(Arg169His), non-syndromic hearing loss p.(Glu465Ala) and congenital

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

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

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

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

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

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

158 raitser-Winter cerebrofrontofacial syndrome, non-syndromic hearing loss, or isolated eye coloboma.

159 c motor properties have been associated with non-syndromic hearing loss, suggesting that the motor pr

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

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

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

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

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

165 odystrophy, mental retardation, seizures) to non-syndromic hearing loss.

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

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

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

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

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

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

172 Recessive mutations in ACP4 cause non-syndromic hypoplastic amelogenesis imperfecta (AI1J,

173 clinical spectrum is wider and also includes non-syndromic ID without epilepsy or myoclonus.

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

175 Non-syndromic inherited defects of tooth dentin are caus

176 mosome have been implicated in syndromic and non-syndromic intellectual disability disorders.

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

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

179 3 have been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia

180 other 10 patients (52.6%) had a diagnosis of non-syndromic IQCB1-retinopathy and maintained normal re

181 Non-syndromic IRDs were significantly higher than syndro

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

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

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

185 n NMNAT1 have been previously shown to cause non-syndromic Leber congenital amaurosis (LCA).

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

187 Non-syndromic low frequency sensorineural hearing loss (

188 128 Caucasian and 61 Hispanic patients with non-syndromic lumbar-sacral myelomeningocele.

189 d cardiomyopathy and heart failure in young, non-syndromic mdx mice.

190 r cohort overlapped with known syndromic and non-syndromic Mendelian clefting loci.

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

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

193 suture closure, including two with isolated non-syndromic metopic craniosynostosis.

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

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

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

197 study, probands of two Turkish families with non-syndromic moderate HL were subjected to exome sequen

198 tide polymorphisms have been implicated, but non-syndromic monogenic causes are lacking.

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

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

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

202 s-Baraitser syndrome, or other syndromic and non-syndromic NDDs.

203 gs suggest that variants in CAPZA2 lead to a non-syndromic neurodevelopmental disorder in children.

204 A variety of syndromic and non-syndromic neurodevelopmental disorders have been con

205 ne if SPECC1L deficiency also contributed to non-syndromic (ns) CL/P.

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

207 om HLRCC (n = 16; FH-mutation confirmed) and non-syndromic (NS) patients (n = 12) identified a signif

208 In a cohort with common non-syndromic obesity, we independently observed a negat

209 Comparison with non-syndromic OC gene networks led us to propose that ch

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

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

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

213 c locus associated with an increased risk of non-syndromic orofacial cleft.

214 n in jaw shape and with an increased risk of non-syndromic orofacial clefting.

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

216 Non-syndromic orofacial clefts (NSOFCs) are common birth

217 ome/disease (41.2%), blunt trauma (21%), and non-syndromic pathologic myopia (11%).

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

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

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

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

222 ter of three Labrador retrievers affected by non-syndromic PRA; the parents and three other siblings

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

224 A point mutation in miR-96 causes non-syndromic progressive peripheral hearing loss and al

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

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

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

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

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

230 and translational research in syndromic and non-syndromic retinal degeneration.

231 ations affecting dolichol biosynthesis cause non-syndromic retinal degeneration.

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

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

234 mong the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP).

235 cause a significant proportion of recessive non-syndromic RP and USH type II (USH2).

236 ne to identify disease causing variants in a non-syndromic RP family, two USH2 families and two Kerat

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

238 HO (c.448G > A, p.Glu150Lys) associated with non-syndromic RP, and MYO7A (c.487G > A, p.Gly163Arg) as

239 dividuals (four families) with recessive and non-syndromic RP, carrying as well bi-allelic DNA change

240 ate that variants in COQ8B lead to recessive non-syndromic RP, possibly by impairing the biosynthesis

241 , and also contribute to autosomal recessive non-syndromic RP.

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

243 el neurodevelopmental disorder and bilateral non-syndromic sensorineural hearing loss and provide fur

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

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

246 ons, with 15 reported individuals presenting non-syndromic, sensorineural, bilateral and progressive

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

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

249 or several rare genetic disorders, including non-syndromic skin-limited diseases.

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

251 Non-syndromic thoracic aortic aneurysms and dissections

252 rlying molecular etiologies of syndromic and non-syndromic thoracic insufficiency and predict extra-s

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

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

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

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

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

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

259 lue rubber bleb nevus syndrome (BRBNS) and a non-syndromic venous malformation.

260 Vs across cleft types or in individuals with non-syndromic versus syndromic clefts were not observed;

261 ndrini syndromes, the ocular associations of non-syndromic vitiligo are incompletely understood.

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

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

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

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

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

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