ライフサイエンスコーパス: genetic diagnosis

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

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

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

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

5 netic linkage studies, thereby improving the genetic diagnosis.

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

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

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

9 ased fashion remains a serious challenge for genetic diagnosis.

10 aternal circulation for noninvasive prenatal genetic diagnosis.

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

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

13 h detailed phenotypic assessment in clinical genetic diagnosis.

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

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

16 h complex III deficiency without a molecular genetic diagnosis.

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

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

19 FHL and normal pigmentation remain without a genetic diagnosis.

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

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

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

23 997 of the 1652 patients (60.4%) received a genetic diagnosis.

24 studying genomic heterogeneity and enabling genetic diagnosis.

25 se accuracy and decrease effort for clinical genetic diagnosis.

26 forms of inherited polyneuropathies without genetic diagnosis.

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

28 n patients with atypical presentations using genetic diagnosis.

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

30 man embryos by complementing preimplantation genetic diagnosis.

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

32 d presymptomatic testing and preimplantation genetic diagnosis.

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

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

35 The genetic diagnosis afforded by this mutation will be valu

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

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

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

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

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

41 Genetic diagnosis and subsequent follow-up, including an

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

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

44 (20 genetically defined cases and 24 without genetic diagnosis) and 19 healthy control subjects under

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

60 A genetic diagnosis can guide medical management, give an

61 Genetic diagnosis can help predict prognosis, especially

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

63 Genetic diagnosis can provide an explanation for lifelon

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

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

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

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

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

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

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

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

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

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

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

75 Genetic diagnosis has also revealed hitherto unexplained

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

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

78 Genetic diagnosis has traditionally been difficult due t

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

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

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

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

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

84 Genetic diagnosis in affected family members and insight

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

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

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

88 The genetic diagnosis in inherited optic neuropathies often

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

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

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

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

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

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

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

96 Early genetic diagnosis is critical to direct clinical managem

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

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

99 A genetic diagnosis is important as it can enable personal

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

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

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

103 Because genetic diagnosis is the basis for molecular therapies,

104 Early genetic diagnosis may allow treatment in some bulbar syn

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

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

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

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

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

110 Genetic diagnosis of cardiomyopathy relies on complete s

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

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

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

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

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

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

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

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

119 Preimplantation genetic diagnosis of leukocyte adhesion deficiency-I led

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

121 Genetic diagnosis of malignant hyperthermia susceptibili

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

123 None had a molecular genetic diagnosis of monogenic diabetes.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

142 Genetic diagnosis remains difficult especially in sporad

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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