ライフサイエンスコーパス: nonsyndromic

1 Most cases are sporadic and nonsyndromic.

2 t extracutaneous manifestations, and thus is nonsyndromic.

3 into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs.

4 in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes.

5 H mutations have rarely been observed in the nonsyndromic and common form of fibroids; however, loss

6 ns and CNVs in 13 genes/loci responsible for nonsyndromic and syndromic monofactorial obesity.

7 fied in port wine stains (both syndromic and nonsyndromic) and melanocytic ocular neoplasms.

8 The vast majority of birth defects are nonsyndromic, and although their etiologies remain mostl

9 1292 and W08-1833) previously diagnosed with nonsyndromic arRP, which cosegregated with the disease a

10 aracterized cohort of three individuals with nonsyndromic ASD sharing common behaviors and three cont

11 neurons and astrocytes from individuals with nonsyndromic ASD using induced pluripotent stem cells.

12 Nonsyndromic atrioventricular septal defects (AVSDs) are

13 the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), which we previ

14 recessive as well as dominant inheritance of nonsyndromic auditory neuropathy.

15 he pejvakin gene PJVK, are known to underlie nonsyndromic auditory neuropathy.

16 that glial dysfunctions could contribute to nonsyndromic autism pathophysiology using induced plurip

17 points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there

18 p and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability

19 tified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with

20 utch origin who was initially diagnosed with nonsyndromic autosomal recessive RP.

21 g in two consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability

22 gulator Wilms' Tumor 1 (WT1) as the cause of nonsyndromic, autosomal dominant FSGS in two Northern Eu

23 domain-containing protein 14), that cause a nonsyndromic, autosomal recessive form of intellectual d

24 ing trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense var

25 xample, NOTCH1, SMAD6) are known for <=1% of nonsyndromic BAV cases with and without AscAA(5-8), impe

26 ending aorta, similar to the pattern seen in nonsyndromic bicuspid aortic valve, is equally prevalent

27 However, nonsyndromic birth defects often exhibit non-Mendelian i

28 re but informative mutations associated with nonsyndromic birth defects.

29 rare variants in LRIG2 might be relevant to nonsyndromic bladder disease.

30 re genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together wi

31 xons of this gene in DNA from a total of 134 nonsyndromic cases.

32 in 75% of individuals, and 85% patients with nonsyndromic CC were found to have likely pathogenic mut

33 stimate that 29.5% of live-born infants with nonsyndromic CCHD in the NBDPS received a diagnosis more

34 Of 3746 live-born infants with nonsyndromic CCHD, late detection occurred in 1106 (29.5

35 ding both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281).

36 ompared copy number variants present in 4634 nonsyndromic CHD cases derived from publicly available d

37 e been found to affect the risk of sporadic, nonsyndromic CHD, but individual studies to date are of

38 Mutations in Cxs are the major cause of nonsyndromic childhood deafness, which are mostly found

39 m database was used to extract data of young nonsyndromic children (age </=14 years) who underwent LS

40 zygous somatic gain-of-function mutations in nonsyndromic children, whereas 2 subtypes, JMML in neuro

41 5-year survival rate rather than those with nonsyndromic CIDs.

42 Nonsyndromic cleft lip and palate (NS CLP) is a complex

43 Nonsyndromic cleft lip and/or palate (NSCL/P) is a preva

44 Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded

45 several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide

46 udy investigates the genetic contribution to nonsyndromic cleft lip and/or palate through the analysi

47 h nonsyndromic orofacial clefts (NSOFCs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft

48 MSX2, PAX9, BMP4 and GREM1) specifically for nonsyndromic cleft lip with cleft palate.

49 Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSC

50 Nonsyndromic cleft lip with or without cleft palate (NSC

51 Nonsyndromic cleft lip with or without cleft palate (NSC

52 Nonsyndromic cleft lip with or without cleft palate (nsC

53 loci have been implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSC

54 identified several genetic risk variants for nonsyndromic cleft lip with or without cleft palate (NSC

55 Cs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip with palate (NSCLP), and nonsyndr

56 Nonsyndromic cleft lip with/without cleft palate (nsCL/P

57 t lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most freq

58 an association of some loci with NSCL/P and nonsyndromic cleft palate only (NSCPO) in cohorts from A

59 Nonsyndromic cleft palate only (nsCPO) is a facial malfo

60 syndromic cleft lip with palate (NSCLP), and nonsyndromic cleft palate only (NSCPO).

61 ent of nsCL/P detectable that is shared with nonsyndromic cleft palate only (nsCPO).

62 Nonsyndromic clefting has been shown to arise through co

63 nts as primary contributory risk alleles for nonsyndromic clefting in humans.

64 To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in

65 nternational cohort to date of children with nonsyndromic clefts and their relatives, as compared wit

66 plausible hypothesis is that the apparently nonsyndromic clefts in these 3 patients might represent

67 Nonsyndromic clefts of the lip and palate are common bir

68 nternational cohort to date of children with nonsyndromic clefts, their relatives, and controls, this

69 uary 1, 1998, through December 31, 2007, and nonsyndromic, clinically verified CCHD conditions potent

70 isease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be associated with

71 ude syndrome and NME2 G71V in a patient with nonsyndromic CLP).

72 ith at least two individuals presenting with nonsyndromic CMI with or without syringomyelia.

73 equencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous

74 he frequency of STBMS1 as a cause of primary nonsyndromic comitant esotropia (PNCE).

75 ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such a

76 in whirlin cause Usher syndrome (USH2D) and nonsyndromic congenital deafness (DFNB31).

77 been identified in patients with isolated or nonsyndromic congenital heart defects (CHDs).

78 c hybridization, 316 children with sporadic, nonsyndromic congenital heart defects, including 76 coar

79 ndition that can occur in both syndromic and nonsyndromic congenital heart disease.

80 erturbations in PTPN11 function in sporadic, nonsyndromic congenital heart disease.

81 ctions whose mutation in humans is linked to nonsyndromic congenital hydrocephalus (NSCH).

82 Deletion of the ATOH7 human SE causes nonsyndromic congenital retinal nonattachment (NCRNA) di

83 used by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment.

84 at this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants id

85 to date, few genes associated with risk for nonsyndromic CP have been characterized.

86 The other half have nonsyndromic CP, and to date, few genes associated with

87 mutations in GRHL3 contribute to the risk of nonsyndromic CPO in the African population.

88 Patients with nonsyndromic craniosynostosis have an increased incidenc

89 -like family peptide receptor 2, in cases of nonsyndromic cryptorchidism are infrequent and of unclea

90 Nonsyndromic cryptorchidism or undescended testis is a s

91 tion of CEACAM16 leads to autosomal dominant nonsyndromic deafness (ADNSHL) at the autosomal dominant

92 1D; USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12).

93 lindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness (DFNB2, DFNA11).

94 ntegrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1

95 different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited p

96 protein connexin 26 (CX26) cause prelingual, nonsyndromic deafness and are responsible for as many as

97 gene encoding protocadherin 15, cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (

98 tte is a model for studying the mechanism of nonsyndromic deafness DFNB25.

99 oncoding variants in HGF are associated with nonsyndromic deafness DFNB39 However, the mechanism by w

100 r the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringi

101 een discovered, bringing the total number of nonsyndromic deafness genes to 64.

102 Mutations in the OTOF gene cause nonsyndromic deafness in humans, and OTOF knock-out mice

103 n associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide.

104 tation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on ch

105 mutations in other genes that cause USH1 and nonsyndromic deafness may also have distinct effects on

106 ve channel gating; and 4), Cx26V84L in M2, a nonsyndromic deafness mutant, retains normal dye couplin

107 The DFNB74 locus for autosomal-recessive, nonsyndromic deafness segregating in three families was

108 tients, they provide a new genetic model for nonsyndromic deafness with enlarged vestibular aqueduct

109 tochondrial DNA causes maternally inherited, nonsyndromic deafness, an extreme case of tissue-specifi

110 rnatively, the dfcr mouse may be a model for nonsyndromic deafness, due to the nonpathologic effect o

111 A specific allele, previously reported in nonsyndromic deafness, may be associated with a mild ret

112 ond identified gene associated with X-linked nonsyndromic deafness, PRPS1 will be a good candidate ge

113 ently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p.

114 g tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness.

115 eles of TBC1D24 can cause either epilepsy or nonsyndromic deafness.

116 ndidate lesion in lhfpl5a predicted to cause nonsyndromic deafness.

117 ost are loss-of-function mutations and cause nonsyndromic deafness.

118 orphic allele of BSND as a cause of apparent nonsyndromic deafness.

119 uences are the basis for either syndromic or nonsyndromic deafness.

120 rtholog of the murine Comt2 gene that causes nonsyndromic deafness.

121 ction in the EP, recapitulating human DFNB39 nonsyndromic deafness.SIGNIFICANCE STATEMENT Hereditary

122 Nonsyndromic defects in the urinary tract are the most c

123 mutation, the USH2A mutation associated with nonsyndromic disease, were compared with rates of change

124 V, and S183F) linked to various syndromic or nonsyndromic diseases to uncover the molecular mechanism

125 , 8, and 31 (PRPF3, PRPF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an

126 been shown to result in autosomal-dominant, nonsyndromic, early-onset deafness.

127 ttaining complete remission in children with nonsyndromic epilepsy (NSE) over the course of >/=10 yea

128 ions, genetic causes including syndromic and nonsyndromic etiologies, and trauma, among others.

129 del for the molecular pathogenesis of PS and nonsyndromic EVA that involves SLC26A4 and its transcrip

130 In nine patients with PS or nonsyndromic EVA, a novel c.-103T-->C mutation in this r

131 emaining 50 patients presented with variable nonsyndromic features including ataxia, neuropathy, and

132 nital ichthyosiform erythroderma (NCIE) is a nonsyndromic form of autosomal recessive congenital icht

133 ivating variants for an autosomal recessive, nonsyndromic form of BRA.

134 2 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.

135 tal deficits associated with this particular nonsyndromic form of X-linked ID.

136 Even nonsyndromic forms can be inherited in an autosomal domi

137 IRF6) are associated with both syndromic and nonsyndromic forms of cleft lip/palate (CLP).

138 We show how mouse models for nonsyndromic forms of deafness involving genes encoding

139 mutations in a gene can cause syndromic and nonsyndromic forms of deafness, as well as progressive a

140 T5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.

141 genetic studies support heritability of the nonsyndromic forms of this condition.

142 egulation of podocyte homeostasis and causes nonsyndromic FSGS.

143 es in the identification of the causation of nonsyndromic genetic cardiomyopathies.

144 ify the pathogenic substrate responsible for nonsyndromic, genotype-negative, autosomal dominant LQTS

145 at differed from the classical syndromic and nonsyndromic groups and that was defined by multiple mal

146 nty-eight patients diagnosed with apparently nonsyndromic HCM aged </=13 years underwent clinical and

147 ation Chinese family with autosomal dominant nonsyndromic hearing impairment (ADNSHI) was enrolled in

148 S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on

149 a locus associated with autosomal-recessive nonsyndromic hearing impairment (ARNSHI), was mapped to

150 rge Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical li

151 7, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL).

152 ed as causing progressive autosomal dominant nonsyndromic hearing loss (DFNA20/26), highlighting thes

153 nction protein known as tricellulin, lead to nonsyndromic hearing loss (DFNB49).

154 iant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disor

155 The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic diagnosis

156 dentified in people with profound congenital nonsyndromic hearing loss (NSHL).

157 onnexin-deficient mice that are models DFNB1 nonsyndromic hearing loss and deafness.

158 be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vesti

159 tions of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human c

160 kindred, dominant, adult-onset, progressive nonsyndromic hearing loss DFNA51 is due to a tandem inve

161 d identification of the causative allele for nonsyndromic hearing loss DFNB82 in a consanguineous Pal

162 ated with post-lingual, autosomal-recessive, nonsyndromic hearing loss in humans (DFNB91).

163 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and humans.

164 ous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromoso

165 ional 40 consanguineous families segregating nonsyndromic hearing loss to the DFNB39 locus and refine

166 consanguineous family segregating recessive, nonsyndromic hearing loss was used to make a library of

167 A gene causing autosomal-recessive, nonsyndromic hearing loss, DFNB39, was previously mapped

168 have also been found to cause low-frequency nonsyndromic hearing loss, progressive hearing loss, and

169 didate gene for genetic testing for X-linked nonsyndromic hearing loss.

170 the DFNA20/26 locus cause autosomal dominant nonsyndromic hearing loss.

171 The two variants both segregated with the nonsyndromic-hearing-impairment phenotype within the thr

172 the distribution to 1007 equally classified nonsyndromic heart defects of patients registered by EUR

173 h CHD7 mutations compared with patients with nonsyndromic heart defects.

174 inositol lipid phosphatase, cause recessive, nonsyndromic, hereditary hearing loss with associated ve

175 Several nonsyndromic high-grade myopia loci have been mapped pri

176 This is the first description of a nonsyndromic, high myopia-related, recessive RRD without

177 Nonsyndromic, high-grade myopia is highly heritable, and

178 ed positional candidate genes in 54 uncloned nonsyndromic human deafness intervals.

179 eins are enriched in hair cells and underlie nonsyndromic human deafness.

180 (Cx26) and Cx30 are the most common cause of nonsyndromic inherited deafness in humans.

181 tructural, and molecular genetic findings in nonsyndromic inherited retinal degenerations associated

182 inal disease are increasingly found to cause nonsyndromic inherited retinal degenerations.

183 cently also been identified in patients with nonsyndromic inherited retinal degenerations.

184 wo unrelated families with multigenerational nonsyndromic intellectual disability (ID) segregating wi

185 fied a genetic locus for autosomal-recessive nonsyndromic intellectual disability associated with var

186 ve external ophthalmoplegia, cardiomyopathy, nonsyndromic intellectual disability, apoptosis, and the

187 an Cc2d1a gene result in autosomal recessive nonsyndromic intellectual disability.

188 M6 mutations as underlying genetic causes of nonsyndromic isolated PDA in humans and implicates the w

189 Group 1 was nonsyndromic, isolated BA (without major malformations)

190 While the condition is nonsyndromic, it can be associated with other craniofaci

191 ailable means of diagnosis for syndromic and nonsyndromic left outflow tract abnormalities and implic

192 anding of the genetics of both syndromic and nonsyndromic left outflow tract disorders is hoped to le

193 ination of a severe and a mild variant cause nonsyndromic macular dystrophy with central cone involve

194 Heritable forms of nonsyndromic male infertility can arise from single-gene

195 rlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mut

196 tal disorders including Rett syndrome (RTT), nonsyndromic mental retardation, learning disability, an

197 as been linked to severe autosomal recessive nonsyndromic mental retardation.

198 d a missense mutation in another family with nonsyndromic mental retardation.

199 phenotype that approaches that of apparently nonsyndromic mental retardation.

200 ) have been found in patients suffering from nonsyndromic mitral valve dysplasia (MVD).

201 Nonsyndromic mitral valve prolapse (MVP) is a common deg

202 mutations are one of the few known causes of nonsyndromic monogenic obesity in both humans and mice.

203 n pedigrees (UR006 and UR077) with isolated, nonsyndromic myopia were studied, in which the condition

204 uman preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes.

205 often unidentifiable causes in patients with nonsyndromic, nonchromosomal forms of HPE.

206 erization of multiplex Chinese families with nonsyndromic (NS) tooth agenesis.

207 niosynostosis, but the majority of cases are nonsyndromic, occurring as isolated defects.

208 Nonsyndromic oculocutaneous Albinism (nsOCA) is clinical

209 thors also directly sequenced 7 genes in 184 nonsyndromic OFC (NSOFC) cases and 96 controls from Ghan

210 ated patients (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA) and in 8 patients wi

211 Thirty-six individuals diagnosed with nonsyndromic or syndromic bilateral congenital cataract

212 hese findings indicate that individuals with nonsyndromic oral clefts and their families do not have

213 uence variants at the TGFA genetic locus and nonsyndromic oral clefts, 47 studies have been carried o

214 tent with the oligogenic model suggested for nonsyndromic oral clefts.

215 ished for a genome-wide association study of nonsyndromic oral clefts.

216 w functional variants identified to date for nonsyndromic orofacial clefting.

217 ajor subphenotypes observed in patients with nonsyndromic orofacial clefts (NSOFCs) are nonsyndromic

218 Nonsyndromic orofacial clefts are a common complex birth

219 Nonsyndromic orofacial clefts are one of the most common

220 genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple s

221 rst time a role of a mutant G-protein in the nonsyndromic pacemaker disease because of GIRK channel a

222 Nonsyndromic patent ductus arteriosus (PDA) is a common

223 the pathogenesis of HH lesions in sporadic, nonsyndromic patients with HH and intractable epilepsy.

224 ole-exome sequencing data from 829 sporadic, nonsyndromic patients with Tetralogy of Fallot.

225 the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the sam

226 imately half of all cases of human autosomal nonsyndromic prelingual deafness.

227 ion in hearing in vertebrates, as underlying nonsyndromic prelingual sensorineural hearing impairment

228 onsanguineous Turkish kindred with recessive nonsyndromic, prelingual, profound hearing loss, we iden

229 The influence of genetic predisposition on nonsyndromic primary rhegmatogenous retinal detachment (

230 e a type of delayed onset autosomal dominant nonsyndromic progressive hearing loss, DFNA20/26.

231 at myosin IIIa, which has been implicated in nonsyndromic progressive hearing loss, is localized at s

232 nnel result in an autosomal dominant form of nonsyndromic progressive high frequency hearing loss.

233 rity of USH causative genes also involved in nonsyndromic recessive deafness (DFNB).

234 ations in the human pejvakin gene that cause nonsyndromic recessive deafness (DFNB59) by affecting th

235 The gene causative for the human nonsyndromic recessive form of deafness DFNB22 encodes o

236 mutants provide valuable models for studying nonsyndromic recessive sensorineural hearing loss (DFNB7

237 inition of human CalDAG-GEFI deficiency as a nonsyndromic, recessive PFD associated with a moderate o

238 These data show that autosomal dominant nonsyndromic renal hypodysplasia and associated urinary

239 ing, and genetic features of CLN3-associated nonsyndromic retinal degeneration.

240 s of 10 patients who presented with isolated nonsyndromic retinal disease and mutations in CLN3.

241 ype 2 (USH2) (n = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) (n = 47) associ

242 BS affect only photoreceptor cells and cause nonsyndromic retinitis pigmentosa (RP), raising the issu

243 Biedl syndrome (BBS), is sufficient to cause nonsyndromic retinitis pigmentosa (RP).

244 ur study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet ano

245 ntified 4 BBS2 missense mutations that cause nonsyndromic retinitis pigmentosa.

246 20 Israeli pedigrees with isolated familial, nonsyndromic RHD and screened for mutations in candidate

247 ariants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels,

248 In a single, one-generation, nonsyndromic RP family, we have identified a gene, dehyd

249 Screening of our nonsyndromic RP patient cohort revealed an additional in

250 age, 54 years vs. 72 years; P < 0.001) than nonsyndromic RP patients.

251 risk of visual impairment than those without nonsyndromic RP.

252 Usher syndrome results were like those in nonsyndromic RP.

253 a frequent cause of Usher syndrome, but also nonsyndromic RP.

254 ual prognosis in Usher syndrome type IIa and nonsyndromic RP.

255 the first genome-wide association study for nonsyndromic sagittal craniosynostosis (sNSC) using 130

256 re found in several human diseases including nonsyndromic sensorineural deafness, Charcot-Marie-Tooth

257 Loss of Cx26 function causes nonsyndromic sensorineural deafness, without consequence

258 ped a previously unknown autosomal-recessive nonsyndromic sensorineural hearing loss locus (DFNB91) t

259 in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss.

260 ed in individuals with recessively inherited nonsyndromic severe myopia.

261 to delineate the concept of syndromic versus nonsyndromic skin fragility disorders.

262 indreds ascertained via an index case with a nonsyndromic solitary kidney or renal hypodysplasia.

263 21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases.

264 tools of genetic epidemiology used to study nonsyndromic structural birth defects, many new approach

265 key to unraveling the complex etiologies of nonsyndromic structural birth defects.

266 akistani families, some members of which had nonsyndromic stuttering and in unrelated case and contro

267 Susceptibility to nonsyndromic stuttering is associated with variations in

268 tumors, including samples from syndromic and nonsyndromic subjects, and these levels correlated stron

269 hile single nucleotide variants in ELN cause nonsyndromic supravalvar aortic stenosis (SVAS).

270 Patients with nonsyndromic SVAS also had a lower freedom from reinterv

271 the arterial walls in patients with WBS and nonsyndromic SVAS compared with controls.

272 Patients with nonsyndromic SVAS presented at a younger age (median 0.3

273 Patients with nonsyndromic SVAS require early and more frequent vascul

274 Patients (81 WBS, 42 nonsyndromic SVAS) with cardiovascular disease were incl

275 ar disease outcomes in patients with WBS and nonsyndromic SVAS.

276 ative survival and predictors of outcomes in nonsyndromic TAA (NS-TAA) are incompletely defined compa

277 ventricular myocardium from 16 infants with nonsyndromic tetralogy of Fallot (TOF) without a 22q11.2

278 ant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO.

279 der caused by PTPRJ mutations presented as a nonsyndromic thrombocytopenia characterized by spontaneo

280 -15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and sugg

281 eleterious variants in the largest cohort of nonsyndromic TOF patients reported to date.

282 ent site of genetic variants predisposing to nonsyndromic TOF, followed by FLT4.

283 g the PTPN11 gene contributes to the risk of nonsyndromic TOF.

284 Isolated or nonsyndromic tooth agenesis or hypodontia is the most co

285 Patients with a nonsyndromic USH2A mutation have the same retinal diseas

286 markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroret

287 ssess the role of FH and the linked genes in nonsyndromic uterine fibroids, we explored a two-megabas

288 es, whole-exome sequencing can help diagnose nonsyndromic uveitis in patients harboring known variant

289 ome linkage and association scan in primary, nonsyndromic vesicoureteric reflux and reflux nephropath

290 c bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a p

291 e complex nature of the genetics of primary, nonsyndromic VUR.

292 and chromosome regions involved in primary, nonsyndromic VUR.

293 Patient categorization (syndromic vs nonsyndromic) was done via blinded medical chart review

294 Nonsyndromic WH is known to be inherited as either an au

295 ic diseases, or without associated findings (nonsyndromic WH).

296 We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 1

297 genital heart disease (CHD) are sporadic and nonsyndromic, with poorly understood etiology.

298 X chromosome in 208 unrelated families with nonsyndromic X-linked intellectual disability, we identi

299 ly expressed scaffold recently implicated in nonsyndromic, X-linked intellectual disability (NS-XLID)

300 activity with possible clinical relevance to nonsyndromic XLID.