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 roprocessor component located in 22q, in the kindred.

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

5 AV by whole exome sequencing a multiplex BAV kindred.

6 mbian autosomal dominant Alzheimer's disease kindred.

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

8 riants completely segregated with CHD in the kindred.

9 sed in six individuals from a consanguineous kindred.

10 tal defects in 3 members of a consanguineous kindred.

11 nown genealogical connection to the original kindred.

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

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

14 ed to monogenic forms of diabetes in certain kindred.

15 rtin disease, the phenotype observed in this kindred.

16 e ameliorative response to treatment in this kindred.

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

18 in the proband from an extended Spanish DDD kindred.

19 pe correlation is reported in a large adPHA1 kindred.

20 hological and mutation analysis of the HDDD2 kindred.

21 d family members belonging to a single large kindred.

22 gene encoding for LAT was identified in this kindred.

23 of a primary immunodeficiency in an extended kindred.

24 wn autosomal dominant Alzheimer disease (AD) kindred.

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

26 with inverted kappa/lambda ratio in several kindreds.

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

28 WES was applied to 24 cases from 15 kindreds.

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

30 s, ranging from 3 to 34 years of age, from 9 kindreds.

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

32 ration, and cancer-predisposition in certain kindreds.

33 homozygous or with both polymorphisms in 124 kindreds.

34 lmoplantar keratoderma in multiple unrelated kindreds.

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

36 se phenotype in all affected persons in both kindreds.

37 r pedigrees especially for affected sib pair kindreds.

38 mpared with the next oldest generation in 11 kindreds.

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

40 reported in a very small number of melanoma kindreds.

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

42 nd through interviews with 5 patients from 4 kindreds.

43 with chronic granulomatous disease from 244 kindreds.

44 iniscent of that observed in our human TAPVR kindreds.

45 al dominant Alzheimer disease in a number of kindreds.

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

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

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

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

50 3 mutations segregating with arrhythmia in 3 kindreds.

51 screening recommendations for members of LFS kindreds.

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

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

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

55 gating with vibratory urticaria in two large kindreds.

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

57 ing of affected individuals from another 163 kindreds.

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

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

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

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

62 168Lys]) in RAB39B in an unrelated Wisconsin kindred affected by a similar clinical phenotype.

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

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

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

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

67 f the familial Alzheimer's disease Colombian kindred aged 8-75 years with no other neurological or he

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

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

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

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

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

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

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

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

76 1 was identified in an atrial septal defects kindred and is predicted to affect the enzymatic functio

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

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

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

80 l martyr narratives, which emphasize duty to kindred and religion.

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

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

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

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

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

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

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

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

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

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

91 g, followed by segregation analysis of large kindreds and transcriptional analysis of participant RNA

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

108 Kindred cells can have different genomes because of dyna

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

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

111 2019); and a Colombian autosomal-dominant AD kindred (cohort 3), including 365 PSEN1 E280A mutation c

112 We studied 160 subjects in 9 kindreds comprising 82 fainters and 78 controls.

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

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

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

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

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

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

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

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

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

122 2FsX448) in ENAM previously identified in AI kindreds from Slovenia and Turkey.

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

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

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

126 y monuments were associated with patrilineal kindred groups.

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

128 These kindreds had earlier unsuccessful candidate gene testing

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

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

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

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

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

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

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

136 Several kindreds having germline BAP1 mutations with a propensit

137 Whole-exome sequencing of an FNMTC kindred identified a novel Y1203H germline dual oxidase-

138 encing of DNA from probands of 24 rHS or HPP kindreds identified numerous mutations in erythrocyte me

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

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

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

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

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

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

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

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

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

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

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

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

151 The clinical penetrance in these kindreds is complete.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

168 pancreatitis sparked us to reexamine a large kindred originally reported over 50 years ago with an au

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

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

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

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

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

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

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

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

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

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

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

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

181 32 years of age, 12 and 17 years before the kindred's respective median ages at mild cognitive impai

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

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

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

185 sense mutations in four unrelated ichthyosis kindreds segregate with disease and disrupt protein resi

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

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

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

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

190 The PPND kindred showed severe sleep disturbance.

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

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

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

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

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

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

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

198 This kindred suggests abnormalities in FLI1 as causative of P

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

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

201 ant of another gene, KCNQ in this particular kindred, that modulates the excitability of iPSC-derived

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

224 rgest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment u

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

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

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

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

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

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

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

232 Here we report an ALS/FTD kindred with a novel K181E TDP-43 mutation that is locat

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

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

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

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

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

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

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

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

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

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

243 ely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was fol

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

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

246 The kindred with familial hypocalciuric hypercalcemia type 2

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

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

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

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

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

252 The largest kindred with inherited prion disease P102L, historically

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

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

255 We describe a kindred with slowly progressive gastrointestinal symptom

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

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 We report 12 patients from 8 unrelated kindreds with AD-HIES due to DN IL6ST mutations.

260 In this study, we characterized 9 kindreds with ADHCAI and identified 3 novel FAM83H trunc

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

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

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

264 onstrated in Tunisian Jewish and Palestinian kindreds with BCS.

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

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

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

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 e performed whole-exome sequence analysis in kindreds with extreme phenotypes of early-onset atherosc

271 290Ala and Gly298Ser forms of TDP-43, in two kindreds with familial ALS.

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

273 Numerous kindreds with familial frontotemporal dementia and/or am

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

288 ed seven affected males from five additional kindreds with novel and predicted pathogenic variants in

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 Five kindreds with similar immunophenotypes that included sel

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

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

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.