ライフサイエンスコーパス: proband

1 variation (approximately 36.0% in hereditary probands).

2 stent with Mendelian inheritance only in the proband.

3 ies, the mutation was a de novo event in the proband.

4 analysis of the ABCA4 gene for a homozygous proband.

5 ted by the multiorgan syndromes noted in the proband.

6 FTR-mediated chloride transport in the adult proband.

7 also derived and matched 1:5 with each case proband.

8 and third-degree relatives of OCD and TD/CTD probands.

9 ed in the co-affected siblings and unrelated probands.

10 and percentage dft, dt, DFT, and DT in case probands.

11 P=0.04) compared with sarcomere-positive HCM probands.

12 ozygous mutations in the PAX9 gene among 120 probands.

13 nd IQs of siblings of BPI vs matched control probands.

14 of urinary marker proteins in healthy human probands.

15 ts was assessed in the family members of the probands.

16 performance than for the siblings of control probands.

17 132 parent-offspring trios and 59 additional probands.

18 met major cardiac MR imaging criteria and in probands.

19 evaluate the effect size of the variants in probands.

20 ITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands.

21 by sex and intellectual disability among the probands.

22 tified 11 different mutations in 15/110 FEVR probands.

23 genes in a cohort of 12 unrelated Uyghur IRD probands.

24 exome sequencing on samples obtained from 47 probands.

25 proband with both parents) vs 40% for single probands.

26 tively, these mutations contribute to 10% of probands.

27 t probands from those (n = 91) of the latest probands.

28 iabetes was the presenting feature in 6 of 9 probands.

29 creening is positive in approximately 50% of probands.

30 iopsies and whole peripheral blood of living probands.

31 ntly more cortical inhibition than their SCZ probands.

32 CNVs were identified in 11 (6.9%) of the 160 probands.

33 iagnosis was achieved in 110 (40%) unrelated probands.

34 Proband 1 inherited a splice-site variant that results i

35 sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios).

36 al of 3,326 subjects were included: 639 case probands, 1,549 unaffected relatives, and 1,138 controls

37 Of the probands, 14 had a clinical diagnosis of homozygous FH a

38 Twenty-three probands (16.1%) and 4 affected relatives (2.8%) (mean [

39 to retinal function were found in another 11 probands (16.4%), but the clinical correlations showed i

40 A total of 5 of 29 probands (17.2%) with a strong family history of neurops

41 .8%), with CNVs inherited from a parent in 4 probands (17.4%).

42 Proband 2 inherited two missense variants in the dimeriz

43 The study sample comprised the proband 2002 laboratory study of the Tasmanian Longitudi

44 Most probands (36 [80.0%] of 45) met major or minor cardiac M

45 , 92% had a SADS diagnosis (92%) as either a proband (50%) or an affected relative (42%); 8% of parti

46 A germline mutation was identified in 23 probands (53.5 +/- 14.9%): 8 in ENG (34.8 +/- 14.2%), 1

47 We obtained a diagnosis in 28 of 41 probands (68%) who were evaluated.

48 Sixteen of 23 probands (69.6%) presented with previously cataloged hum

49 Thirteen probands (7%) had damaging de novo or rare transmitted m

50 ounder mutations in BRCA1 or BRCA2; of these probands, 7 (0.8%) carried another pathogenic mutation i

51 ormed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment

52 Neither proband age at CRC diagnosis, family history of CRC, nor

53 tives followed regional patterns observed in probands, albeit less extensive.

54 MSI/MMR testing reliably identifies LS probands, although 7.0% of patients with CRC carry non-L

55 luation of primary cells from the homozygous proband and a heterozygous parent indicated that the obs

56 natal diabetes genes detected one additional proband and an affected sibling with the same homozygous

57 us included sex, age at genetic testing, and proband and family cancer histories.

58 The proband and other subjects with mutations associated wit

59 The SVM algorithm categorized the proband and subjects with other immunodeficiency-associa

60 of genetic risk of schizophrenia in 130 COS probands and 103 healthy siblings.

61 sity mapping and whole-exome sequencing in 5 probands and 2 unaffected family members from 4 unrelate

62 re, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a c

63 METHODS AND Clinical data of 23 probands and 35 family members carrying this variant wer

64 was used to confirm variants in all mutated probands and analyze their segregation in probands' rela

65 ranscriptome and protein analyses in arhinia probands and controls showed no differences in SMCHD1 mR

66 8 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNM

67 cardiac samples are difficult to obtain from probands and especially from family members.

68 The phenotype in probands and family members was characterized by atriove

69 abnormalities that are intermediate between probands and healthy controls.

70 diabetes genes was carried out in 55 family probands and identified mutations verified among their r

71 earched for BMP6 mutations in relatives of 5 probands and in 200 healthy individuals (controls), as w

72 ormed Sanger sequence validation in affected probands and parental samples.

73 ation was collected, and cancer diagnoses in probands and relatives were independently verified.

74 hysiological endophenotypes in schizophrenia probands and their families.

75 ted polygenic risk score comparisons for COS probands and their healthy siblings.

76 correlated with aspects of cognition in the probands and their relatives.

77 orrelations in SA and IQs between the pre-SZ probands and their siblings were significantly lower tha

78 n those observed between the matched control probands and their siblings.

79 ified using co-affected siblings of the GWAS probands and trend effect across unrelated patients.

80 Comparing probands and unaffected siblings, we observe several DNM

81 on V1 was performed in the remaining 4 NCMD probands, and 2 additional novel single nucleotide varia

82 er a pathogenic 346 kb inversion in multiple probands, and cDNA sequencing and a splicing assay estab

83 icipants were unaffected family members of a proband; and genetic confirmation was reported by 73%.

84 , 48 probands; Asan Bio-Resource Center, 138 probands; and kConFab, ten probands), who were older tha

85 lowered cognitive performance in the pre-SZ probands appears to arise from qualitative developmental

86 g simulated variants constructed from 79,214 probands, as well as 379 true variants.

87 dy [ISKS], 966 probands; Project GENESIS, 48 probands; Asan Bio-Resource Center, 138 probands; and kC

88 cutive genotyped hypertrophic cardiomyopathy probands at 5 tertiary hypertrophic cardiomyopathy cente

89 These traits are also expressed in probands at high genetic risk of BD.

90 clear families consisting of a schizophrenia proband, at least one unaffected sibling, and both paren

91 tives, and bipolar disorder I with psychosis probands (BDP) and their first-degree relatives.

92 Three FGFR1 mutations seen in HPE probands behave identical to wild-type FGFR1 in rescue a

93 We included 447 probands belonging to families with a diagnostic type 1

94 K87) critical for crosslinking is reduced in proband bone tissue, consistent with decreased lysyl hyd

95 t burden analysis, 638 (55%) of 1162 sarcoma probands bore an excess of pathogenic germline variants

96 cal disease occurred during childhood in the proband, but not in the other seven homozygotes.

97 ently detected in our screen of over 200 HPE probands by next generation sequencing, only five distin

98 ched for potential "multiple-hit" cases; one proband carried a rare AUTS2 variant in combination with

99 66 of 1162 probands carried notifiable variants following expert cl

100 tients should be advised), whereas 293 (25%) probands carried variants with potential therapeutic sig

101 ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FS

102 score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower me

103 Probands carry more gene-disruptive CNVs and SNVs, resul

104 Nine probands carry secondary CNVs that disrupt genes associa

105 Analysis of cancers in the pedigree of the proband carrying the S98R variant and in two other pedig

106 Two of these three probands carrying BAP1 loss-of-function variants also ha

107 In contrast to control cells, the probands' cells showed mitochondrial swelling, which was

108 rmine the odds of EoE among relatives of EoE probands compared with the odds of EoE among relatives o

109 r burden of damaging mutations in EGs in ASD probands compared with their non-ASD siblings.

110 o be higher in mothers and fathers of TD/CTD probands (compared with siblings).

111 Schizophrenia probands derived from the multiply affected families als

112 aMKIIalpha catalytic domain, identified in a proband diagnosed with ASD, decreases both CaMKIIalpha s

113 This study sought to investigate the Brugada probands diagnosed from 1986 through the next 28 years.

114 Unaffected siblings of ASD probands did not show evidence of heightened preference

115 e was 29.0 (2.2) days for infants undergoing proband exome sequencing, 31.5 (3.9) days for trio exome

116 Exome sequencing types included proband exome, trio exome, and critical trio exome, a ra

117 erebral cortex and cerebellum of an affected proband, expanding our understanding of mechanisms attri

118 vere neurological defects reminiscent of the probands' features.

119 the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in

120 HODS AND A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutat

121 in 202 cSVD unrelated probands, including 1 proband from the first reported pontine autosomal domina

122 4-SNP GRS was detected among those unrelated probands from 4 family groups with the earliest, earlier

123 silencing transcription factor (REST) in the probands from all families and further genetic and genom

124 without mutations affecting p16INK4A, and 69 probands from different families carrying CDKN2A mutatio

125 tified recessive variants in PYROXD1 in nine probands from five families.

126 affecting p16INK4A (wild-type p16INK4A); 191 probands from melanoma-prone families with a single mela

127 nes in an RP cohort of 35 unrelated Hispanic probands from the Miami area.

128 o-affected siblings (n = 90) of the earliest probands from those (n = 91) of the latest probands.

129 , and Sanger sequencing of DNA from affected probands from unrelated families with thoracic aortic di

130 tigate mutations in LOX in an additional 410 probands from unrelated families.

131 Probands grouped by Biotype versus healthy controls show

132 Proband groups showed a significant age-related decrease

133 No proband had 2 LP/P variants.

134 No proband had multiple LP/P variants in contrast to previo

135 The remaining 41 probands had been born to predominantly nonconsanguineou

136 Mothers of Tourette syndrome probands had high rates of symmetry (49%) but not disinh

137 COS probands had higher genetic risk scores of both schizoph

138 was 46 years (IQR 29-58), 170 (15%) of 1162 probands had multiple primary cancers, and 155 (17%) of

139 Of the 1007 probands in the study, 903 probands had no founder mutations in BRCA1 or BRCA2; of

140 Sixteen probands had normal resting QTc values and only develope

141 ognitive performance, the siblings of the SZ probands had SA and IQs that did not differ from populat

142 oral and parietal regions; psychotic bipolar probands had small reductions, primarily in frontal regi

143 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a const

144 nal unrelated probands, including the PADMAL proband, harbored heterozygous variants in this microRNA

145 ification by whole-exome sequencing of seven probands harboring dominant, de novo SLC25A4 mutations.

146 enome sequence (WGS) data from two unrelated probands harbouring a de novo 3Mb 22q11.2 deletion and t

147 Approximately 40% of HCM probands have a nonfamilial subtype, with later onset an

148 Probands have a significant burden of synonymous PMMs an

149 ed populations, the odds of psychiatric case probands having an affected mate were significantly elev

150 entricular outflow tract obstruction than G- probands, however, had more hypertrophy, and nonsustaine

151 Family studies of probands identified ten additional TT homozygotes.

152 There were 165 probands in the early group and 282 in the latter group.

153 Of the 1007 probands in the study, 903 probands had no founder mutat

154 tely 0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB

155 hieved nearly complete resolution in the two probands in whom it has been applied, consistent with th

156 gene was then screened in 202 cSVD unrelated probands, including 1 proband from the first reported po

157 e sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implic

158 We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610)

159 Five additional unrelated probands, including the PADMAL proband, harbored heteroz

160 These findings hold independent of proband IQ.

161 al increased in subcohorts of families where probands lacked nonsynonymous germline mutations, especi

162 Germline DNA from 144 HDGC probands lacking CDH1 mutations was screened using multi

163 sible genetic cause was identified in 51% of probands, likely indicating the existence of as yet unid

164 ated with increased dental anomalies in case probands may be superseded by possible greater access to

165 s to obtain the genomic DNA of 200 ADHD male probands (mean age: 8.7 years), 192 patients' mothers an

166 probands, n = 190; schizoaffective disorder probands, n = 142; unaffected relatives, n = 483 [SZ rel

167 of 1381 subjects (SZ probands, n = 224; PBD probands, n = 190; schizoaffective disorder probands, n

168 neurocognitive analyses of 1381 subjects (SZ probands, n = 224; PBD probands, n = 190; schizoaffectiv

169 ents were detected in approximately 7% of AC probands negative for pathogenic point mutations in desm

170 A proband of Brugada syndrome (BrS) is the first patient d

171 zygous MRPS34 mutations were identified in a proband of French ancestry; a missense (c.37G>A [p.Glu13

172 revealed a higher prevalence of DNMs in the probands of all four disorders compared with the one in

173 in those with MPM, and 2.9% (2 of 69) in the probands of families with p16INK4A mutations.

174 ied recessive null mutations in 8 additional probands, of which, 3 had NDM (<6 months).

175 After matching SZ and control probands on cognitive performance, the siblings of the S

176 ated significantly with breast cancer in the proband or first-degree relative (P < .01), and with col

177 (P < .01), and with colorectal cancer in the proband or first-degree relative (P < .01), but not fami

178 Twenty unrelated probands or families from Greece have been analyzed, of

179 Also, proband osteoblasts have broadly defective differentiati

180 istent with decreased lysyl hydroxylase 1 in proband osteoblasts.

181 the ICR1000 UK exome series), and a clinical proband-parent trio dataset.

182 We performed WES in three families, using proband-parent trios and two additional affected sibling

183 ome or whole-genome sequencing studies (4167 probands plus 1786 controls) with our Chinese population

184 Twenty-seven probands possessed reported pathogenic KCNE2 mutations,

185 The proband presented with bilateral cleft lip and palate, m

186 e truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogen

187 ernational Sarcoma Kindred Study [ISKS], 966 probands; Project GENESIS, 48 probands; Asan Bio-Resourc

188 ed probands and analyze their segregation in probands' relatives.

189 failure to identify mutation carriers among probands represents a lost opportunity to prevent cancer

190 tified 0, 1, and >/=2 VOIs in 72, 74, and 28 probands, respectively.

191 spiratory epithelial cell RNA from the adult proband revealed only aberrant CA12 transcripts and in v

192 ly damaging missense) are overrepresented in probands (RR 1.37, p = 0.003).

193 In the proband's father, who had 0.0 logMAR visual acuity, sign

194 We also detected the mutant peptide in the proband's renal amyloid deposits.

195 We also detected the mutant peptide in the proband's renal and GI amyloid deposits.

196 scription factors, consistent with decreased proband secretion of type I collagen.

197 unohistochemical analysis of muscle from the proband showed a significant decrease in protein express

198 report that compared to control individuals, probands showed a significant (p = 0.03) enrichment of d

199 The SZ and PBD probands showed robust and significant reductions, where

200 Clinical re-evaluation of these probands shows that some of them have subtle syndromic f

201 ed with families with only a single affected proband (singleton).

202 Out of the 12 probands, six are solved with high confidence, two with

203 ctions and sustained ventricular arrhythmia; proband status; extent of structural disease; cardiac sy

204 The older proband subsequently developed refractory status epilept

205 ic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of dis

206 Nine variants (in eight probands) survived our filtering/prioritization strategy

207 s among healthy subjects (HP), schizophrenia probands (SZ) and their first-degree relatives, and bipo

208 sequently screened 73 genotype-negative ARVC probands tested previously for mutations in known ARVC g

209 ally expressed genes were more common in ASD probands than controls (P < 1 x 10(-6)), and genes carry

210 d heterozygous mutations in 30/97 (30.9%) of probands, the largest SPG11 series reported to date, and

211 In 3 probands, the underlying genetic defect was not found.

212 Whole brain GMD measures were examined in probands, their relatives, and healthy subjects organize

213 is mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with cli

214 gnosed arrhythmia, we studied 7,500 affected probands undergoing commercial gene-panel testing.

215 pts and protein expression were increased in proband versus control EBV-immortalized lymphoblastoid c

216 Schizophrenia and schizoaffective probands versus healthy controls showed overlapping GMD

217 The number of comorbidities in a case proband was associated with the proportion of affected m

218 , mucocutaneous ulceration in a family whose proband was dependent on anti-TNF therapy for sustained

219 The proband was overweight (body mass index 29.1) with a slo

220 The proband was referred because of resistant hypokalemic hy

221 dian age at cancer diagnosis in 1162 sarcoma probands was 46 years (IQR 29-58), 170 (15%) of 1162 pro

222 Genomic DNA from all 1007 NYBCS probands was sequenced for 23 known and candidate breast

223 with PD and a replication cohort of familial probands was used.

224 Of eighteen probands we can confidently diagnose three with OA and O

225 Four of the 8 probands we present had no history of BAP1-associated ma

226 In 37 probands, we identified variants in 2 genes newly implic

227 THODS AND Of 758 hypertrophic cardiomyopathy probands, we included 382 with >/=45 cardiomyopathy gene

228 All probands were affected by moderate-severe forms of the d

229 Three probands were homozygous for Arg264Trp, Arg286Gln, or Ar

230 were found in either APOB or PCSK9, but nine probands were homozygous for seven different LDLR mutati

231 Of the 2335 patients, 143 probands were investigated (mean [SD] age, 24.6 [10.8] y

232 tives of patients with SCZ and their related probands were investigated to assess frontal cortical in

233 Probands were more likely than controls to have multiple

234 However, spouses of EoE probands were observed to be at increased risk of EoE (O

235 Probands were screened for mutations in the LDLR, APOB,

236 precision of BRCA2 prevalence estimates, 290 probands were selected from 3 strata, based on family hi

237 FG+ and G+ probands were younger with less left ventricular outflow

238 mutation and its effects are limited to the proband, whereas mosaicism also affecting the gametes, s

239 ilar in mothers, fathers and siblings of OCD probands, whereas it tended to be higher in mothers and

240 dentified a human tRNA[Ser]Sec mutation in a proband who presented with a variety of symptoms, includ

241 identified a pathogenic BRCA2 mutation in a proband who was diagnosed with breast cancer on follow-u

242 obustly the most cost-effective strategy for probands who are younger than 60 years.

243 ource Center, 138 probands; and kConFab, ten probands), who were older than 15 years at the time of c

244 Studies of infant siblings of older autistic probands, who are at elevated risk for autism, have demo

245 s identified a de novo p.R294H mutation in a proband with ataxia and ID.

246 gnostic rate of 60% for "trios" (an affected proband with both parents) vs 40% for single probands.

247 s, including an early nonsense mutation in a proband with femorogluteal lipodystrophy and non classic

248 , and an essential splice site mutation in a proband with partial lipodystrophy and a history of chil

249 sequencing in families identified through a proband with severe, early-onset COPD would identify add

250 Seven probands with a clinical diagnosis of FH were mutation n

251 Seven of 10 probands with a compound heterozygous TGM1 genotype had

252 ore component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlap

253 in alpha-actinin 1, in 10 of 239 consecutive probands with an inherited thrombocytopenia--making ACTN

254 dividuals with de novo mutations by matching probands with and without these genetic events on sex, I

255 ible for inherited aortopathy and tested 248 probands with aortic disease or Marfan syndrome.

256 whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative varian

257 urodevelopmental disorders among siblings of probands with ASD vs siblings of matched controls.

258 opmental disorders cluster among siblings of probands with ASD.

259 ly lower (by 26.3 points) in the duplication probands with ASD.

260 overlap between genes with damaging DNMs in probands with CHD and autism was also found.

261 osis in 22 of 92 patients (24%), including 9 probands with CKD of unknown cause and encompassing 13 d

262 Forty-five of 59 probands with confirmed or probable diagnoses had varian

263 rmed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dys

264 Probands with DNMs or rare inherited mutations in the 67

265 oradic case with M-D, but in none of the 146 probands with familial M-D.

266 neration sequencing to analyze 404 unrelated probands with focal epilepsy.

267 sequently identified in additional unrelated probands with Grange syndrome.

268 HODS AND Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center betwe

269 8+/-6 years, cardiovascular mortality in FG+ probands with HCM was similar to G+ HCM (22% versus 14%;

270 The clinical phenotype of FG+ and G+ probands with HCM was similar.

271 FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM a

272 study included 680 271 FG+ carriers, 132 G+ probands with HCM, and 277 G- probands with HCM.

273 systolic and diastolic dysfunction than FG+ probands with HCM.

274 rriers, 132 G+ probands with HCM, and 277 G- probands with HCM.

275 offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in

276 phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and un

277 novo heterozygous missense mutations in four probands with intellectual disability, abnormal neurolog

278 in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76% and 40%, respectively; P<0.001).

279 VOIs were found in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76%

280 ional analysis of a prospective cohort of 26 probands with NAFLD-cirrhosis and 39 first-degree relati

281 demonstrated that first-degree relatives of probands with NAFLD-cirrhosis have a 12 times higher ris

282 vanced fibrosis in first-degree relatives of probands with NAFLD-cirrhosis was significantly higher t

283 fibrosis among the first-degree relatives of probands with NAFLD-cirrhosis were odds ratio 14.9 (95%

284 vanced fibrosis in first-degree relatives of probands with NAFLD-cirrhosis.

285 A mutations were identified among 4,760 trio probands with neurodevelopmental diseases; this is highl

286 There were 251 (61%) probands with no reported family history of HCM, includi

287 history of HCM, including 166 (40% of total) probands with no sarcomere mutation, that is, nonfamilia

288 From 36 European patients, we identify two probands with novel RFX6 heterozygous nonsense variants.

289 Of six probands with only a single heterozygous mutation in TYR

290 by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of func

291 e psychosis groups, the anterior splenium in probands with PBD showed a stronger correlation with psy

292 Five of the 23 probands with positive results (21.7%) had more than 1 C

293 to cognition, psychotic symptoms, and age in probands with schizophrenia (SZ), psychotic bipolar diso

294 D and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposin

295 sis (GWAS) was conducted in 94 schizophrenia probands with the earliest AAO and 91 with the latest AA

296 A characteristic phenotype was identified in probands with truncating mutations in FLNC.

297 ction mutations were identified in PARN in 2 probands with tubulointerstitial fibrosis.

298 We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot-M

299 Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis

300 tiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (