ライフサイエンスコーパス: genetic diagnosis

1 ith diabetes before 2 years of age without a genetic diagnosis.

2 MD gene were taken as the model analytes for genetic diagnosis.

3 rtality was 57% (12 of 21) in infants with a genetic diagnosis.

4 997 of the 1652 patients (60.4%) received a genetic diagnosis.

5 studying genomic heterogeneity and enabling genetic diagnosis.

6 se accuracy and decrease effort for clinical genetic diagnosis.

7 forms of inherited polyneuropathies without genetic diagnosis.

8 nically characterized individuals who lack a genetic diagnosis.

9 c challenge, as many patients remain without genetic diagnosis.

10 n patients with atypical presentations using genetic diagnosis.

11 Approximately, 11% of probands have a genetic diagnosis.

12 face in their quest to establish a specific genetic diagnosis.

13 d presymptomatic testing and preimplantation genetic diagnosis.

14 nd many affected individuals have an unknown genetic diagnosis.

15 re recorded in 88 patients, of whom 68 had a genetic diagnosis.

16 CD3(+) determinations, and 80 of them had a genetic diagnosis.

17 e, conditioning regimen used, and underlying genetic diagnosis.

18 ncing has not previously been used to make a genetic diagnosis.

19 netic linkage studies, thereby improving the genetic diagnosis.

20 those with a familial linkage, lack a clear genetic diagnosis.

21 eatment plans will in the future be based on genetic diagnosis.

22 ased fashion remains a serious challenge for genetic diagnosis.

23 aternal circulation for noninvasive prenatal genetic diagnosis.

24 sampling are used to obtain fetal cells for genetic diagnosis.

25 ; however, most ASD cases continue to lack a genetic diagnosis.

26 manifestations was completed by those with a genetic diagnosis.

27 a small family with a previously unresolved genetic diagnosis.

28 otal of 228 children (80%) did not receive a genetic diagnosis.

29 ease, many patients with axonal forms lack a genetic diagnosis.

30 vast majority of adult patients lack a clear genetic diagnosis.

31 ith rare diseases remain without a confirmed genetic diagnosis.

32 , underscoring the importance of an accurate genetic diagnosis.

33 many individuals remain without a confident genetic diagnosis.

34 netic studies of human diseases and clinical genetic diagnosis.

35 D registry we were able to reach a molecular genetic diagnosis.

36 fully leverage computational predictors for genetic diagnosis.

37 uals suspected to have a rare disease lack a genetic diagnosis.

38 However, most cases remain without a genetic diagnosis.

39 any patients remain with an incomplete or no genetic diagnosis.

40 myopathy gene, often leaving them without a genetic diagnosis.

41 20% of all patients with tubulopathy lack a genetic diagnosis.

42 PCD genes in 42 patients with an incomplete genetic diagnosis.

43 -0.33) were the only factors associated with genetic diagnosis.

44 dividuals with neurological diseases with no genetic diagnosis.

45 f cases with HMN/CMT2 still remain without a genetic diagnosis.

46 h a probable genetic aetiology do not have a genetic diagnosis.

47 highlights major limitations of WES in ADPKD genetic diagnosis.

48 seizures were significantly associated with genetic diagnosis.

49 data of 42 subjects with EE and no previous genetic diagnosis.

50 y biopsy results, and 212 had an established genetic diagnosis.

51 he reader to discover the patient's ultimate genetic diagnosis.

52 man embryos by complementing preimplantation genetic diagnosis.

53 ntly more frequent in the patients without a genetic diagnosis.

54 h detailed phenotypic assessment in clinical genetic diagnosis.

55 tting, yet many individuals remain without a genetic diagnosis.

56 h complex III deficiency without a molecular genetic diagnosis.

57 nce, particularly in simplex cases without a genetic diagnosis.

58 adds a valuable tool for basic research and genetic diagnosis.

59 FHL and normal pigmentation remain without a genetic diagnosis.

60 zation and subsequently used preimplantation genetic diagnosis; 3 months ago she delivered a healthy

61 frequently found among individuals without a genetic diagnosis (30 of 64 individuals [47%]).

62 Among the 869 participants with a genetic diagnosis, 304 participants (35%) completed the

63 ighty-six patients (17.3%) had an incomplete genetic diagnosis, 42 of whom had end-to-end gene sequen

64 st 20 years, 28 of 51 who lacked a confirmed genetic diagnosis (55%) consented to NGS studies, leadin

65 Next-generation sequencing has made genetic diagnosis affordable, enabling effective genomic

66 The genetic diagnosis afforded by this mutation will be valu

67 Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for pr

68 on of individuals with NDDs remain without a genetic diagnosis after microarray and/or exome sequenci

69 ata on the desirability and acceptability of genetic diagnosis amongst adult patients with intellectu

70 This knowledge will enable early genetic diagnosis and better genetic counseling for fami

71 However, common workflows for genetic diagnosis and clinical variant interpretation fr

72 ression was used to estimate associations of genetic diagnosis and costs.

73 They have also important implications for genetic diagnosis and counseling in clinical practice be

74 lelic interactions are essential to optimize genetic diagnosis and counselling.

75 ellular protein complexes, pharmacogenomics, genetic diagnosis and gene therapies.

76 The technology of preimplantation genetic diagnosis and genetic testing in relatives of mu

77 Assuring that relatives are informed about a genetic diagnosis and have appropriate medical follow-up

78 ly actionable information, thereby improving genetic diagnosis and identifying novel points of therap

79 populations support the promise of precision genetic diagnosis and management of this devastating bra

80 muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of th

81 le DNA that could be enriched for both early genetic diagnosis and monitoring of pathological pregnan

82 gible for this study if they had no previous genetic diagnosis and no indication of an acquired cause

83 Genetic diagnosis and subsequent follow-up, including an

84 conditions based on the clinical utility of genetic diagnosis and the availability of specific medic

85 licing models with potential applications in genetic diagnosis and the development of splicing-based

86 A barrier to genetic diagnosis and translational research is the incr

87 view is to highlight the key publications on genetics, diagnosis and management of hemochromatosis an

88 (20 genetically defined cases and 24 without genetic diagnosis) and 19 healthy control subjects under

89 tood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking.

90 matic status before diagnosis, clinical, and genetic diagnosis, and breakthrough cardiac events after

91 IIS responsiveness, presence of a genetic diagnosis, and FSGS or diffuse mesangial scleros

92 y, development, immunology, pre-implantation genetic diagnosis, and neurobiology.

93 ith increasing evidence of the pathogenesis, genetics, diagnosis, and risk factors of the disease.

94 ese recent advancements in the epidemiology, genetics, diagnosis, and treatment of gestational tropho

95 polyps and summarizes the recent advances in genetics, diagnosis, and treatment of polyps in the larg

96 This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinso

97 ission, respectively; 27% in children with a genetic diagnosis; and 79% and 52% in children with hist

98 diagnosis, tissue biopsy findings, and final genetic diagnosis are discussed.

99 st than Western countries, the resources for genetic diagnosis are limited.

100 it is important to consider this alternative genetic diagnosis as early as possible, not only so that

101 ad to improvements in the accurate molecular genetic diagnosis, assessment of prognosis and multidisc

102 esence of structural cardiac anomaly without genetic diagnosis at the time of enrollment.

103 there was a treatment change prompted by the genetic diagnosis, but not directly related to known pat

104 mitochondrial disease have not only improved genetic diagnosis, but they have provided important insi

105 ximately 50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease

106 have a favourable probability of receiving a genetic diagnosis by WES.

107 erns of behavior, interests or activities, a genetic diagnosis can be established in only a minority

108 A genetic diagnosis can guide medical management, give an

109 A genetic diagnosis can help elucidate the prognosis of he

110 Genetic diagnosis can help predict prognosis, especially

111 Genetic diagnosis can inform progression of hearing loss

112 Accurate genetic diagnosis can now be made for five forms, and it

113 Genetic diagnosis can provide an explanation for lifelon

114 d allelic heterogeneity, making clinical and genetic diagnosis complex.

115 otype correlations are assessed, emphasizing genetic diagnosis complexities and diverse immune dysreg

116 In the SRNS patients without a genetics diagnosis confirmed, there was no statistically

117 The specific genetic diagnosis, consanguinity, and severe clinical co

118 ion is unknown, which presents challenges in genetic diagnosis, counseling, and management.

119 c diagnosis in 4 of 26 patients who lacked a genetic diagnosis despite routine functional and genetic

120 hanisms underlying disease risk will improve genetic diagnosis, drive phenotypic drug discovery and p

121 in populations are unknown, this complicates genetic diagnosis even after genome sequencing of patien

122 ty of nonsyndromic hearing loss (NSHL) makes genetic diagnosis expensive and time consuming using ava

123 The careful study of families and routine genetic diagnosis facilitated natural history studies ba

124 f which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients.

125 ved cases, our assay resulted in a molecular genetic diagnosis for 35 of 139 patients.

126 sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majority

127 Genetic diagnosis for FSHD is generally based on the siz

128 from nephrology research and preimplantation genetic diagnosis for heritable kidney diseases.

129 ons in SAG gene and may serve as a basis for genetic diagnosis for Oguchi disease.

130 Despite increasing success in determining genetic diagnosis for patients with inherited retinal di

131 ur results provide a foundation for improved genetic diagnosis for people with IRDs.

132 ardiac manifestations and requires molecular genetic diagnosis for prognostic determination and cardi

133 polyendocrinopathy, and enteropathy have no genetic diagnosis for their illness.

134 vious genetic diagnosis received a confirmed genetic diagnosis from the findings of the RNA-seq data.

135 discuss the implications of our studies for genetic diagnosis, genotype-phenotype correlations, and

136 summarize current knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, path

137 Early genetic diagnosis, genotype-tailored surveillance, and f

138 rently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is as

139 The WES-related molecular genetic diagnosis had implications for clinical care for

140 Genetic diagnosis has also revealed hitherto unexplained

141 Genetic diagnosis has helped our patients with IEI in ge

142 The availability of genetic diagnosis has led to a progressive broadening of

143 The availability of molecular genetic diagnosis has opened up a new field for patient

144 Genetic diagnosis has traditionally been difficult due t

145 Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal domin

146 MCOP cohort reported to date and provides a genetic diagnosis in 19/21 families (90.5%), including t

147 ing and chromosomal microarray established a genetic diagnosis in 32% (39 of 123).

148 NA-based strategy we have devised achieved a genetic diagnosis in 36% of individuals referred to our

149 The NGS method allowed us to make a genetic diagnosis in 4 of 26 patients who lacked a genet

150 summary, we were able to provide a positive genetic diagnosis in 43% and 41% of patients carrying th

151 fulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth

152 A genetic diagnosis in a patient with CKD allows for scree

153 Genetic diagnosis in affected family members and insight

154 A genetic diagnosis in Amyotrophic Lateral Sclerosis (ALS)

155 -effective diagnostic method to facilitate a genetic diagnosis in any of 170 known PID-related genes

156 -map regions of the genome and enabled rapid genetic diagnosis in clinical settings.

157 Confirmation of genetic diagnosis in correlation with clinical presentat

158 eling, prenatal testing, and preimplantation genetic diagnosis in extended families at risk of recurr

159 e genome, demonstrating valid approaches for genetic diagnosis in facioscapulohumeral muscular dystro

160 identify additional mutations to facilitate genetic diagnosis in genodermatoses.

161 These studies emphasize the relevance of genetic diagnosis in hypertrophic cardiomyopathy and pro

162 s needed to further assess the role of rapid genetic diagnosis in improving clinical, quality-of-life

163 Clinicians should have high suspicion for a genetic diagnosis in individuals with vPS, particularly

164 The genetic diagnosis in inherited optic neuropathies often

165 tients with chronic kidney disease yielded a genetic diagnosis in just under 10% of cases.

166 A genetic diagnosis in patients with CID was made in 48 (4

167 Genetic diagnosis in patients with FSGS is complicated b

168 lation is often not available, which makes a genetic diagnosis in patients with PIDs complex and labo

169 e spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with sever

170 Achieving a genetic diagnosis in these patients is important to our

171 multiexon genes and shows the feasibility of genetic diagnosis in this disorder.

172 in turn, for SRNS patients with a confirmed genetic diagnosis, in 57 of the 59 genes we found no sta

173 had a change in clinical care in response to genetic diagnosis, including 2 patients who received tar

174 n of transferrin, this test cannot provide a genetic diagnosis; indeed, many patients with abnormal t

175 f GDs in these patients can enable a precise genetic diagnosis, inform prognosis, and help stratify r

176 A genetic diagnosis informs on molecular pathology and may

177 The most frequent molecular genetic diagnosis is a P102L mutation of the prion prote

178 reasing use of next generation sequencing, a genetic diagnosis is achieved for a greater number of pa

179 set epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and elec

180 ADPKD genetic diagnosis is complicated by PKD1 pseudogenes loc

181 Early genetic diagnosis is critical to direct clinical managem

182 sequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics

183 dings may retain prognostic relevance when a genetic diagnosis is established.

184 A genetic diagnosis is feasible in a high proportion of fa

185 he DSD umbrella is challenging and molecular genetic diagnosis is frequently not achieved, which has

186 Establishing a genetic diagnosis is imperative for WT families so that

187 A genetic diagnosis is important as it can enable personal

188 ngside the scientific interest, molecular or genetic diagnosis is important for patients.

189 nate few who are diagnosed, the journey to a genetic diagnosis is long and perilous.

190 s due to a retinopathy, sometimes before the genetic diagnosis is made.

191 emain undiagnosed, in those patients where a genetic diagnosis is reached the commonest causes are SC

192 Because genetic diagnosis is the basis for molecular therapies,

193 A precise genetic diagnosis is the single most important step for

194 Early genetic diagnosis may allow treatment in some bulbar syn

195 ocus are expressed in the brain.(3-5) Third, genetic diagnosis might be made early in life, long befo

196 A total of 279 ALS cases (26.9%) received a genetic diagnosis, namely 75.2% of patients with a famil

197 Importantly, so far neither the genetic diagnosis nor basic measurements of T-cell immun

198 increased the likelihood of having a solved genetic diagnosis (odds ratio [95% confidence interval]

199 Thirteen of 51 had a genetic diagnosis of "atypical" SCID and 14 of 51 of CID

200 7 PCD genes was performed, following routine genetic diagnosis of a panel of more than 46 genes.

201 diagnosis of FHH1 and two individuals with a genetic diagnosis of ADH1 were identified in the 51,289

202 ive analysis of patients with a clinical and genetic diagnosis of BCD was conducted.

203 ees in any meridian, or both, with confirmed genetic diagnosis of biallelic RPE65 mutations, sufficie

204 ibution of the metabolites identified to the genetic diagnosis of breast cancer.

205 cation of array CGH to tumor specimens makes genetic diagnosis of cancers possible and may help to di

206 Genetic diagnosis of cardiomyopathy relies on complete s

207 s multicenter study, patients with confirmed genetic diagnosis of CHM were enrolled.

208 nrelated female patients with a clinical and genetic diagnosis of choroideremia carriers were include

209 es, aged 23 to 71 years, with a clinical and genetic diagnosis of choroideremia.

210 of this approach by making an unanticipated genetic diagnosis of congenital chloride diarrhea in a p

211 profiling is currently the gold standard for genetic diagnosis of copy number.

212 ncing is becoming increasingly important for genetic diagnosis of diseases including idiopathic infer

213 WES facilitates genetic diagnosis of fetal structural anomalies, which e

214 Thus, 38 individuals with a genetic diagnosis of FHH1 and two individuals with a gen

215 psy similar to that used in pre-implantation genetic diagnosis of genetic defects-that does not inter

216 Our goal was to improve the genetic diagnosis of HD phenocopies and to identify new

217 roducibility at levels sufficient to perform genetic diagnosis of hearing loss.

218 al recent advancements have been made in the genetic diagnosis of hemochromatosis and Wilson disease.

219 wo prospective cohorts of individuals with a genetic diagnosis of HVDAS.

220 Genetic diagnosis of Leigh syndrome is complicated on ac

221 Preimplantation genetic diagnosis of leukocyte adhesion deficiency-I led

222 Our central goals were to improve the genetic diagnosis of LGMD, investigate whether the WES p

223 ow accurate variant interpretation, expedite genetic diagnosis of LSS, and facilitate precision medic

224 Genetic diagnosis of malignant hyperthermia susceptibili

225 An accurate genetic diagnosis of maturity-onset diabetes of the youn

226 tochondrial dysfunction that can support the genetic diagnosis of mitochondrial diseases.

227 sease chromosomes, which are crucial for the genetic diagnosis of MLIV in the non-Jewish population,

228 None had a molecular genetic diagnosis of monogenic diabetes.

229 rt of consecutive children and adults with a genetic diagnosis of Noonan syndrome with multiple lenti

230 overy of novel disease-causing genes and the genetic diagnosis of patients with monogenic inborn erro

231 : 232 of 496 patients (46.8%) had a complete genetic diagnosis of PCD after stringent variant assessm

232 Genetic diagnosis of rare diseases requires accurate ide

233 ession dataset, and will be valuable for the genetic diagnosis of rare diseases, the analysis of rare

234 years or older, had a confirmed clinical and genetic diagnosis of RDEB, at least two chronic wounds (

235 ariant for ABCG5/ABCG8 genes, confirming the genetic diagnosis of sitosterolemia.

236 ciated with rare disorders, leading to rapid genetic diagnosis of the probands.

237 findings are beginning to be applied to the genetic diagnosis of these conditions.

238 diagnosis of TSC, and eleven patients had a genetic diagnosis of TSC.

239 ggest that our approach is effective for the genetic diagnosis of USH.

240 The effect of genetic diagnosis on clinical care requires continued im

241 lied as a generic method for preimplantation genetic diagnosis on single cells biopsied from human em

242 sting, advocating for its use only where the genetic diagnosis or its exclusion can impact the choice

243 the opportunity for combined preimplantation genetic diagnosis (PGD) and HLA antigen testing.

244 o describe the first case of preimplantation genetic diagnosis (PGD) and in vitro fertilization (IVF)

245 ess rates and limitations of preimplantation genetic diagnosis (PGD) for haematologic disease to enab

246 However, preimplantation genetic diagnosis (PGD) for this severe genetic disorder

247 Preimplantation genetic diagnosis (PGD) has become an option for couples

248 Indications for preimplantation genetic diagnosis (PGD) have recently been expanded to i

249 y, the methods available for preimplantation genetic diagnosis (PGD) of in vitro fertilized (IVF) emb

250 he current gold standard for preimplantation genetic diagnosis (PGD) of single-gene disorders (SGD),

251 these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select

252 Therefore, we used preimplantation genetic diagnosis (PGD) to select an embryo produced by

253 opsy similar to that used in preimplantation genetic diagnosis (PGD), which does not interfere with t

254 sents a new framework for clinical care with genetic diagnosis preceding development of clinical feat

255 Access to a precise genetic diagnosis (PrGD) in critically ill newborns is l

256 likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with

257 large-scale sequencing will assist molecular genetic diagnosis, prognosis, and specific treatment, an

258 For family planning, a genetic diagnosis provides reproductive options, includi

259 A genetic diagnosis provides the possibility to clarify ri

260 ular testing methods are required to improve genetic diagnosis rates and thereby improve clinical out

261 Four PCD-likely patients without a previous genetic diagnosis received a confirmed genetic diagnosis

262 of 32 of 109 children (29.4%) who received a genetic diagnosis received diagnoses that significantly

263 Genetic diagnosis remains difficult especially in sporad

264 disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in approximately 35%-4

265 Nevertheless, a genetic diagnosis remains unavailable for many patients.

266 ractical importance, because preimplantation genetic diagnosis requires removal of blastomeres from t

267 fected individuals remain without a clinical genetic diagnosis, suggesting variants in additional gen

268 ores, along with progress in preimplantation genetic diagnosis, suggests the possibility of screening

269 ected Mendelian conditions lacking a precise genetic diagnosis, T-LRS identified pathogenic or likely

270 Fifty-two patients (65%) received a genetic diagnosis (the M+ group): 49 carried germline mu

271 ns challenging but, with the availability of genetic diagnosis, this will largely supersede the use o

272 hom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phen

273 sis and highlight the importance of accurate genetic diagnosis to inform treatment decisions for BMF.

274 ersistent chylomicronemia (with or without a genetic diagnosis) to receive subcutaneous plozasiran (2

275 congenital myasthenic syndrome that lacked a genetic diagnosis underwent whole exome sequencing in or

276 uencing (WES) and assess the feasibility for genetic diagnosis using two founder variants in primary

277 g the combination of approaches, a confirmed genetic diagnosis was achieved in 51% (43 of 85).

278 A genetic diagnosis was achieved in 57% of all familial at

279 A genetic diagnosis was associated with changes in clinica

280 Genetic diagnosis was associated with neonatal seizure o

281 A molecular genetic diagnosis was available for 241 patients (61%),

282 y of patients with epilepsy with a molecular genetic diagnosis was conducted in six tertiary epilepsy

283 A genetic diagnosis was found in 63 of 76 families (83%),

284 The likelihood of detecting a molecular genetic diagnosis was highest for patients with urinary

285 viously reported SOCS1 haploinsufficiency, a genetic diagnosis was identified in 3 of 18 patients (17

286 A definite or probable genetic diagnosis was identified in 98/319 (31%) familie

287 ant in unstable infants, and those in whom a genetic diagnosis was likely to impact immediate managem

288 Of these, a clear clinical genetic diagnosis was made in 56 families (36.8%) owing

289 In this study, receiving a genetic diagnosis was not associated with cost savings.

290 In 66 patients (21%) a genetic diagnosis was obtained, of which 38 (12%) had ot

291 Overall, a genetic diagnosis was possible in more than 90% of our p

292 tation of all de novo variants, a conclusive genetic diagnosis was reached in 20 patients.

293 Patients with recently established molecular genetic diagnosis were followed up including multifocal

294 s therefore present a promising approach for genetic diagnosis which is not yet in routine use.

295 patients with suspected PMD remain without a genetic diagnosis, which restricts their access to in-de

296 alformations, and demonstrate feasibility of genetic diagnosis with clinically available testing in >

297 Genetic diagnosis with this mutation may be sufficient f

298 y-two percent of this cohort had a confirmed genetic diagnosis, with pathogenic variants in the MT-AT

299 ificant form of mental retardation for which genetic diagnosis would be appropriate.

300 No association was found between genetic diagnosis yield and other sociodemographic varia