ライフサイエンスコーパス: kindred

1 peak LOD score 3.5 at D1S2652 in the largest kindred).

2 sampling strategy (33 HLHS kindreds, 102 BAV kindreds).

3 d family members belonging to a single large kindred.

4 ize a novel prion disease in a large British kindred.

5 riants completely segregated with CHD in the kindred.

6 tal defects in 3 members of a consanguineous kindred.

7 ATA (p.Asp490Glu-Pro491Tyr), in one European kindred.

8 gene encoding for LAT was identified in this kindred.

9 us for the disease on chromosome 2p15 in one kindred.

10 ed to monogenic forms of diabetes in certain kindred.

11 rtin disease, the phenotype observed in this kindred.

12 e ameliorative response to treatment in this kindred.

13 gnated the polyposis in the rat colon (Pirc) kindred.

14 in the proband from an extended Spanish DDD kindred.

15 pe correlation is reported in a large adPHA1 kindred.

16 hological and mutation analysis of the HDDD2 kindred.

17 etween ALS and FTD can occur within the same kindred.

18 wn autosomal dominant Alzheimer disease (AD) kindred.

19 BX18) in seven affected members of the large kindred.

20 f 13 subjects from two generations of an LFS kindred.

21 AV by whole exome sequencing a multiplex BAV kindred.

22 ration, and cancer-predisposition in certain kindreds.

23 homozygous or with both polymorphisms in 124 kindreds.

24 .V338E, and c.1130C>T p.T377M, in 3 Japanese kindreds.

25 se phenotype in all affected persons in both kindreds.

26 r pedigrees especially for affected sib pair kindreds.

27 mpared with the next oldest generation in 11 kindreds.

28 y the FAM38A gene, in 2 multigenerational HX kindreds.

29 reported in a very small number of melanoma kindreds.

30 known DBA gene regions in 3 patients from 2 kindreds.

31 nd through interviews with 5 patients from 4 kindreds.

32 with chronic granulomatous disease from 244 kindreds.

33 iniscent of that observed in our human TAPVR kindreds.

34 al dominant Alzheimer disease in a number of kindreds.

35 controls, but was found in 5 additional NCMD kindreds.

36 nd 3.1, respectively, was identified in HLHS kindreds.

37 ous in-frame deletion mutations in all three kindreds.

38 at chromosomes 18q22, 13q34, and 5q21 in BAV kindreds.

39 n in 95 patients with TGCT from 64 unrelated kindreds.

40 3 mutations segregating with arrhythmia in 3 kindreds.

41 screening recommendations for members of LFS kindreds.

42 mprehensive, genome-wide linkage scan of 194 kindreds.

43 igh bone mass trait (HBM) in two independent kindreds.

44 the PDE11A isoform-4 gene (PDE11A) in three kindreds.

45 gating with vibratory urticaria in two large kindreds.

46 moderate or severe ichthyosis vulgaris in 15 kindreds.

47 etected in approximately 30% of familial FTD kindreds.

48 channel, encoded by the KCNN4 gene, in both kindreds.

49 ing of affected individuals from another 163 kindreds.

50 ite familial disease being present in 44% of kindreds.

51 WES was applied to 24 cases from 15 kindreds.

52 TLC1, DCTN1, REEP1) were identified in three kindreds.

53 ing, we identified mutations in MATR3 in ALS kindreds.

54 Pathogenic mutations were identified in five kindreds: (1) ATL1-p.Val253Ile; (2) LITAF-p.Gly112Ser; (

55 sing a sequential sampling strategy (33 HLHS kindreds, 102 BAV kindreds).

56 of TRMU in 613 subjects from 1 Arab-Israeli kindred, 210 European (Italian pedigrees and Spanish ped

57 -wide linkage analysis was used to study one kindred (4 generations, 32 individuals) with predominant

58 Ten subjects were recruited from the PPND kindred; 5 affected and 5 unaffected.

59 In two unrelated kindreds, a point mutation (c --> g) at position -270 fr

60 168Lys]) in RAB39B in an unrelated Wisconsin kindred affected by a similar clinical phenotype.

61 d whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia, we identified

62 were also identified in a second independent kindred affected by AR isolated dystonia.

63 n two siblings of a consanguineous Pakistani kindred affected by LCA.

64 f the familial Alzheimer's disease Colombian kindred aged 18-60 years were recruited from the Alzheim

65 We report three patients from unrelated kindreds, aged 8, 12, and 37 yr with isolated CMC, who d

66 We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth reta

67 le proband, unaffected parents, and, in most kindreds, an unaffected sibling.

68 from 35 multiple-case WM and 46 mixed WM/BCD kindred and 28 nonfamilial (sporadic) WM patients, using

69 We evaluated a consanguineous kindred and a genetically unrelated nonconsanguineous ki

70 RDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage wa

71 ggested a single founder for both this large kindred and a smaller family in the mid-18th century.

72 s) in two American kindreds and one Japanese kindred and a triple nucleotide change, c.1470-1472TCC>A

73 d with one 'private' mutation in an extended kindred and four founder mutations in multiple kindreds

74 1 was identified in an atrial septal defects kindred and is predicted to affect the enzymatic functio

75 chanism for adult-onset hearing loss in this kindred and may serve as one model for age-related heari

76 is locus, segregating as expected within the kindred and not found in a homozygous state in 300 Bedou

77 lected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to invest

78 ic deletion identified in affected Pakastani kindreds and a missense mutation detected in an Iraqi fa

79 wn hereditary nonpolyposis colorectal cancer kindreds and also occurs in sporadic tumors in a variety

80 N2A are frequently identified among melanoma kindreds and are associated with increased atypical nevu

81 We analyzed patients from five separate kindreds and characterized their peripheral nerve functi

82 up of 64 patients from 59 British and German kindreds and found the truncating mutation, c.191dupA in

83 ative and neuropsychiatric conditions in ALS kindreds and matched healthy controls.

84 We report detailed mapping in extended TAPVR kindreds and mutation analysis in TAPVR patients that im

85 tion c.1484A>G (p.Tyr495Cys) in two American kindreds and one Japanese kindred and a triple nucleotid

86 sequencing of other CDH cohorts or multiplex kindreds and provide ideal candidates for further functi

87 amyotrophic lateral sclerosis (ALS) patient kindreds and psychiatric symptoms may precede the onset

88 been reported in a small number of multiplex kindreds and sporadic cases.

89 reds, including 5 previously unreported HHRH kindreds and two cases with IH, in which known and novel

90 perexcitability which underlies pain in this kindred, and suggest that small peripheral nerve fibre d

91 were obtained from members of two unrelated kindreds, and 9 were from patients with sporadic cases.

92 cases from representative multi-generational kindreds, and by analysing the age of onset, gender rati

93 Incomplete penetrance was suggested in two kindreds, and the youngest generation had significantly

94 ated that members of a three-generation MEN1 kindred are heterozygous for a donor splice site mutatio

95 t complex inheritance, and both HLHS and BAV kindreds are enriched for BAV.

96 enome-wide linkage analysis was performed in kindreds ascertained by either an HLHS or BAV proband.

97 We studied seven multiplex kindreds ascertained via an index case with a nonsyndrom

98 milial PD or dementia with LBs (DLB) in rare kindreds, but abnormal accumulations of wildtype alpha-S

99 disease gene for pleiotropic DHSt in a large kindred by exome sequencing analysis within the previous

100 rited erythromelalgia, characterized in most kindreds by early-age onset of severe pain.

101 We believe that the Pirc rat kindred can address many of the current gaps in the mode

102 Patients from two kindreds carried biallelic loss-of-expression and loss-o

103 ysautonomia, small hands and small feet in a kindred carrying a novel Na(V)1.7 mutation.

104 A Colombian kindred carrying the PS1-E280A mutation is the largest k

105 Kindred cells can have different genomes because of dyna

106 By sequencing three kindred cells, we were able to identify individual singl

107 ons (SNVs) can be accomplished by sequencing kindred cells.

108 mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients a

109 at co-segregated with aHUS in nine unrelated kindreds, defining a distinctive Mendelian disease.

110 nd hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring t

111 Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause C

112 a type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents

113 kindreds, including from one of the first HX kindreds described, who lack predicted heterozygous PIEZ

114 Four children from two unrelated kindreds died of severe pulmonary disease during infancy

115 In an Israeli kindred, dominant, adult-onset, progressive nonsyndromic

116 ate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of cra

117 a high frequency risk allele occurs in pVUR kindreds from many different populations.

118 2FsX448) in ENAM previously identified in AI kindreds from Slovenia and Turkey.

119 Combined data from these cases and 62 kindreds from the literature revealed four common mutati

120 somal dominant FSGS in two Northern European kindreds from the United States.

121 ndred and four founder mutations in multiple kindreds gave an estimation by maximum likelihood of 5 x

122 -microglobulin, the affected members of this kindred had normal renal function and normal circulating

123 These kindreds had earlier unsuccessful candidate gene testing

124 Affected members of the other two kindreds had KCNJ5(G151E) mutations, which are not seen

125 KCNJ5 revealed that affected members of two kindreds had KCNJ5(G151R) mutations, identical to one of

126 Four familial NSC kindreds had mutations in genes previously implicated in

127 Approximately half of the kindreds had mutations in KRT6A (52%), 28% had mutations

128 Half of hereditary nonpolyposis colon cancer kindreds harbor mutations that inactivate MutLalpha (MLH

129 protein (WASp) resulting in an X-linked SCN kindred has been reported.

130 Further haplotype analysis of six affected kindreds has demonstrated genetic heterogeneity for this

131 uencing of the PRKAR1A gene in more than 150 kindreds has revealed a number of pathogenic mutations;

132 Several new familial GIST kindreds have been reported, including those with germli

133 Studies in individuals or small kindreds have implicated rare variants in 25 different g

134 e set out to identify the JP gene in a large kindred having 10 affected members without SMAD4 or BMPR

135 Several kindreds having germline BAP1 mutations with a propensit

136 nd a genetically unrelated nonconsanguineous kindred in which affected subjects exhibited progressive

137 estigated a large, consanguineous, multiplex kindred in which biological features of ALPS were found

138 egregating in three unrelated consanguineous kindreds in which affected children present with a fatal

139 tions (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregating as an autosomal do

140 With the exception of the Lister kindred, in each family the multiplication event appears

141 The 972 kindreds include 2284 cases of BPI disorder, 498 individ

142 This mutation segregated with disease in the kindred, including in three other children with LCA.

143 We recruited 23 members of a four-generation kindred, including ten persons with dentin defects, and

144 aboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindred

145 describes patients from 2 well-phenotyped HX kindreds, including from one of the first HX kindreds de

146 f renal disease from 11 ostensibly unrelated kindreds, including the original two families.

147 report the results of genetic analyses of a kindred inheriting a unique autosomal-recessive lymphede

148 mate pyruvate transaminase 2 (GPT2) in large kindreds initially ascertained for intellectual and deve

149 The clinical penetrance in these kindreds is complete.

150 encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6.

151 In some kindreds, linked -108/-153 nucleotide substitutions have

152 kers of AD were assessed from 54 PSEN1 E280A kindred members (age range, 20-59 years).

153 s identified 5030 variants in a sample of 20 kindred members.

154 In the remaining seven kindreds, multiple rare or novel variants were identifie

155 In several kindreds, mutations in the insulator led to impaired ank

156 y-onset AD and noncarrier controls from both kindreds (n = 2) were studied with PiB-PET imaging and c

157 ome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of ea

158 , identification of an endophenotype in this kindred not only aided ascertainment of additional famil

159 analysis was performed in a 4-generation AF kindred of 27 individuals, 8 with AF documented by elect

160 In a large kindred of German descent, we found a novel allele that

161 on mutations in seven individuals from three kindreds of different ethnic origins with both candidias

162 ed variants in control groups matched to two kindreds of patients for age and ethnic origin.

163 f72 repeat expansion, but is also present in kindreds of those without the C9orf72 expanded repeat.

164 er variation (tgCNV) in six individuals; two kindreds of two parents and a child, using high coverage

165 osatellite haplotype background to the large kindred or each other.

166 We resequenced ANGPTL3 in 4 members of 3 kindreds originally identified for very low levels of lo

167 Furthermore, the consistent kindred presentation of the DD or DGI phenotype appears

168 Within the high subgroup, ALS kindreds presented a significantly higher rate of psychi

169 y associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked t

170 The Pirc rat kindred provides several unique and favorable features f

171 ntify PIEZO1 mutations in individuals from 9 kindreds referred with suspected hereditary xerocytosis

172 No members of this kindred reported a history of uveal melanoma.

173 otspots accounting for 37 (55%) and 50 (75%) kindreds, respectively.

174 ural hearing loss DFNA41 in a six-generation kindred revealed a rare heterozygous allele, P2RX2 c.178

175 tein from serum of an affected member of the kindred revealed mutation in the constant region of kapp

176 on of affected individuals in 163 additional kindreds revealed another eight families (4.7%) with het

177 h cognitive decline up to 6 years before the kindred's estimated median age of 44 years (95% CI, 43-4

178 32 years of age, 12 and 17 years before the kindred's respective median ages at mild cognitive impai

179 discovery rate = .01) was replicated in the kindred sample (OR = 1.54, p = .01), strengthening the o

180 We also used the kindred sample where linkage was detected (125 SZ, 120 b

181 In the kindred sample, onset of either SZ or BD was, on average

182 samples of an individual from a large Dutch kindred segregating the P51S mutation and adult human un

183 identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4

184 f global microsatellite variation on the two kindreds sequenced at high depth (~20x-60x) in the 1000

185 astly, WT mice engrafted with marrow from KO kindred showed loss of trabecular bone analogous to KO m

186 The PPND kindred showed severe sleep disturbance.

187 PCR of lymphocyte cell lines from one of the kindreds showed reduced levels of only the long isoform,

188 ed Mg(2+) wasting disorder in consanguineous kindred shows that EGF acts as an autocrine/paracrine ma

189 indered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may no

190 half the patients and over one-third of the kindreds studied.

191 from four cohorts (the International Sarcoma Kindred Study [ISKS], 966 probands; Project GENESIS, 48

192 reported in a consanguineous Israeli Bedouin kindred suffering from Pelizaeus-Merzbacher-like disease

193 In a number of human kindreds suffering from congenital hypothyroidism, and i

194 This kindred suggests abnormalities in FLI1 as causative of P

195 alogical analyses of eight separate European kindreds support multiple distinct mutational events at

196 and alcoholism, occur more frequently in ALS kindreds than in controls.

197 In two such kindreds, the English and the Tottori, the mutations pro

198 In the original HPP kindred, there is compound heterozygosity for an allele

199 We describe the first kindred to date with a germline mutation in BAP1 associa

200 ome-wide linkage analysis in a large ALS/FTD kindred to identify a novel disease locus on chromosome

201 pressions of dementia observed in this large kindred, to identify the causal mutation in affected ind

202 IL-17F deficiency, each reported in a single kindred, underlie CMC in otherwise healthy patients.

203 analysis in a large atrial fibrillation (AF) kindred using AF and abnormally prolonged signal-average

204 me-wide linkage study in a large ALS and FTD kindred using Affymetrix 10K GeneChip microarrays.

205 lpha-chain amyloidosis have been in isolated kindreds, usually in the context of a novel amyloidogeni

206 k of venous thrombosis (VT) among members of Kindred Vermont II but fails to fully account for the in

207 genome-wide scan on 151 DNA samples from 70 kindreds was completed using deCODE 1100 short tandem re

208 Fine mapping on a total of 184 DNAs from 83 kindreds was done in regions suggesting linkage.

209 In one kindred, we confirmed the de novo occurrence of the muta

210 In a large AF kindred, we have identified a novel AF locus on chromoso

211 Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20

212 ng in a recessive isolated dystonia-affected kindred, we identified disease-segregating compound hete

213 ur affected individuals in three independent kindreds, we captured and sequenced coding regions to a

214 Thirty-six participants from a large Spanish kindred were clinically examined, and 33 family members

215 Affected subjects in the consanguineous kindred were homozygous for disease-specific NTE mutatio

216 autosomal dominant Alzheimer disease (ADAD) kindred were used to track the longitudinal trajectory o

217 A total of 16 participants with BSI from 13 kindreds were identified from 6 academic medical centers

218 All of the smaller P102L kindreds were linked to polymorphic human prion protein

219 Affected subjects from 25 kindreds were selected from an ongoing FIP registry for

220 impairment, can be strikingly early in this kindred when compared with other inherited or sporadic p

221 ere found in three additional unrelated HHRH kindreds, which supports the conclusion that this diseas

222 er in a hereditary breast and ovarian cancer kindred who developed a low-grade malignant appendiceal

223 ar-old girl from a nonconsanguineous Angolan kindred, who was born in France and developed disseminat

224 year-old woman from an Iranian consaguineous kindred, who was living in Iran and developed disseminat

225 n extended Lebanese Brown-Vialetto-Van Laere kindred, whose affected members were negative for SLC52A

226 We studied a large German kindred with 10 affected members.

227 We describe a five*generation kindred with a history of atrial and ventricular arrhyth

228 Here we identify a DD kindred with a novel -1 bp frameshift (c.3141delC) that

229 clinical and proteomics studies of a French kindred with a novel amyloidogenic fibrinogen Aalpha-cha

230 Interestingly, a kindred with a specific G228W AIRE variant presented wit

231 carriers aged 9 to 17 years from a Colombian kindred with ADAD.

232 We identified a kindred with an autosomal dominant form of CAKUT.

233 We identified a kindred with an autosomal-dominant form of CAKUT with pr

234 By far the largest known kindred with an inherited prion disease caused by a prio

235 a mutation (c.346G>A) identified in a human kindred with autosomal dominant odontohypophosphatasia.

236 ng F cell levels in an extended Asian-Indian kindred with beta thalassemia to a 1.5-Mb interval on ch

237 In a six-generation consanguineous Turkish kindred with both essential tremor and Parkinson disease

238 t of CBZ on mutant Na(v)1.7 channels in this kindred with CBZ-responsive inherited erythromelalgia.

239 In this study, we describe the first kindred with defective LAT signaling caused by a homozyg

240 nel, Nav1.5, which was identified in 1 large kindred with dilated cardiomyopathy (DCM) and multiple a

241 n (Del-L955) in NaV1.7 sodium channel from a kindred with erythromelalgia hyperpolarizes activation.

242 kage studies and whole-exome sequencing in a kindred with familial FSGS, we identified a missense mut

243 The kindred with familial hypocalciuric hypercalcemia type 2

244 We performed GNA11 mutational analysis in a kindred with familial hypocalciuric hypercalcemia type 2

245 iant of HABP2 in seven affected members of a kindred with familial nonmedullary thyroid cancer and in

246 p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strate

247 Individuals from a large kindred with HDGC who were identified to have a CDH1 mut

248 By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mu

249 Kindred with inherited prion disease can show remarkable

250 The largest kindred with inherited prion disease P102L, historically

251 In a large consanguineous Turkish kindred with recessive nonsyndromic, prelingual, profoun

252 k inducer of apoptosis (TWEAK; TNFSF12) in a kindred with recurrent infection and impaired antibody r

253 We describe a kindred with slowly progressive gastrointestinal symptom

254 ociated hereditary diffuse gastric carcinoma kindred with synchronous primary diffuse gastric carcino

255 We previously reported a kindred with three cases of dementia, in which the proba

256 rythroderma in patients from three unrelated kindreds with a clinical diagnosis of NLSDI.

257 Exclusion from the analysis of kindreds with a phenotype of multiple polyposis also fou

258 We describe members of 4 kindreds with a previously unrecognized syndrome charact

259 of identifying disease-causing mutations in kindreds with AI, and this technique should prove clinic

260 e cohort family study was carried out on 192 kindreds with at least one member with homozygous FVL or

261 d to segregate with disease in two unrelated kindreds with autosomal dominant B-ALL.

262 onstrated in Tunisian Jewish and Palestinian kindreds with BCS.

263 e sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, ren

264 al recessive mutations in ORAI1 in unrelated kindreds with CID, autoimmunity, ectodermal dysplasia wi

265 cohort of 11 individuals from six unrelated kindreds with congenital myopathy.

266 patterns of partial tooth agenesis in seven kindreds with defined MSX1 mutations and ten kindreds wi

267 kindreds with defined MSX1 mutations and ten kindreds with defined PAX9 mutations.

268 Recordings from 20 patients from eight kindreds with different KCNA1 point mutations were compa

269 We report herein members of four kindreds with early onset primary aldosteronism of unkno

270 290Ala and Gly298Ser forms of TDP-43, in two kindreds with familial ALS.

271 WES was performed on 9 kindreds with familial CHD, 4 with atrial septal defects

272 Numerous kindreds with familial frontotemporal dementia and/or am

273 We recently identified several kindreds with familial FTDP associated with mutations in

274 yndrome, parathyroid cancer, and a subset of kindreds with familial isolated hyperparathyroidism.

275 Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identica

276 In eight kindreds with FIHP, we identified three rare missense va

277 index-case individuals from eight unrelated kindreds with FIHP.

278 members and screened for in an additional 32 kindreds with FIHP.

279 CM2 CCID, and found in seven of the 40 (18%) kindreds with FIHP.

280 Here, we present six kindreds with hereditary FSGS that did not associate wit

281 ard ratio of VTE for relatives selected from kindreds with heterozygous probands with VTE was 4.14 (9

282 my specimens of patients from four different kindreds with high risk of familial pancreatic cancer wh

283 Compared with relatives belonging to kindreds with homozygous probands without VTE, the adjus

284 rtifact of incomplete time of observation of kindreds with HPAH due to BMPR2 mutations.

285 Here, seven UFS kindreds with HPSE2 mutations are presented, including o

286 sk of ALS in family members, and to identify kindreds with increased aggregation of neurodegenerative

287 yroidectomy in asymptomatic young members of kindreds with MEN-2A who had a mutated allele of the RET

288 MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at

289 exome sequencing of eight subjects from six kindreds with onset of portal hypertension of indetermin

290 long-QT syndrome and have been described in kindreds with other arrhythmias.

291 ribed in seven patients from three unrelated kindreds with profound T-cell deficiency and various vir

292 F, we performed exome sequencing of familial kindreds with pulmonary fibrosis.

293 ncing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme

294 uropsychiatric disease that is pronounced in kindreds with the C9orf72 repeat expansion, but is also

295 Can kindreds with tooth agenesis caused by MSX1 or PAX9 muta

296 Family-based association analysis on kindreds with type 1 VWD demonstrated an excess transmis

297 the cause of disease in 3 unrelated Finnish kindreds with variable symptoms of immunodeficiency and

298 nearly all the phenotypic variation in these kindreds, with highly significant evidence of genetic in

299 In this study, we report on two unrelated kindreds, with two patients each, who had cryptosporidia

300 en reproducibly identified in melanoma-prone kindreds worldwide.