ライフサイエンスコーパス: single gene disorder

1 for the hemoglobinopathies, the most common single gene disorders.

2 se (SCD) is one of the most common inherited single gene disorders.

3 ion for patients' phenotypes when describing single gene disorders.

4 ties, as well as areas of distinction within single gene disorders.

5 lity of NIPD for fetal sex determination and single gene disorders.

6 etermination, fetal rhesus D status and some single gene disorders.

7 ct sizes modify phenotypic expression of the single gene disorders.

8 sickle cell anaemia, globally the commonest single gene disorders.

9 ht us underlying mechanisms via more than 20 single-gene disorders.

10 ls as opposed to biopharmaceuticals to treat single-gene disorders.

11 S cases represent a large collection of rare single-gene disorders.

12 e capture analysis for broadly heterogeneous single-gene disorders.

13 when interpreting the molecular pathology of single-gene disorders.

14 lian patterns of inheritance as is seen with single-gene disorders.

15 pies for human cleft palates that arise from single-gene disorders.

16 fication of the genetic variation underlying single-gene disorders.

17 encing increasingly challenges notions about single-gene disorders.

18 Single-gene disorders accounted for a quarter of the sei

19 Spinal muscular atrophy (SMA) is a single gene disorder affecting motor function in uterus.

20 The study of single-gene disorders affecting adipose tissue may eluci

21 The lissencephalies are usually single-gene disorders affecting neuronal migration durin

22 diabetes of the young comprises a number of single-gene disorders affecting pancreatic beta-cell fun

23 eatment of cleft palate conditions and other single-gene disorders affecting the craniofacial complex

24 a-1 antitrypsin (AAT) deficiency is a common single-gene disorder among Northern Europeans and North

25 beta-thalassemias are the most common single gene disorders and are potentially amenable to ge

26 alignant gliomas, Parkinson's disease, known single gene disorders and cerebral ischaemia.

27 ca have provided new therapeutic options for single gene disorders and for hematologic malignancies.

28 ted outcome of Mendelian autosomal recessive single gene disorders and may also be interpreted as tha

29 t insights into the phenotypic expression of single gene disorders and the complexity of the dysregul

30 ides the basis that allows us to move beyond single gene disorders and to contemplate progress for co

31 pes for therapies that would be specific for single-gene disorders and identify cellular targets in i

32 ance per person in 187 genes associated with single-gene disorders and the proportions of individuals

33 one MDS patient had suggested that MDS was a single gene disorder, and that LIS1 spans in excess of 4

34 eneous and include chromosome abnormalities, single gene disorders, and teratogenic exposures.

35 Several single gene disorders are associated with allergic disea

36 The causal variants in single gene disorders are necessary and sufficient to im

37 Recognition of a single-gene disorder as causal for a patient's 'multiple

38 Neurofibromatosis 1 (NF1) is a single-gene disorder associated with cognitive phenotype

39 Single-gene disorders associated with neurodevelopmental

40 ry efforts have expanded the number of known single-gene disorders associated with stroke and have li

41 l determination of the molecular genetics of single-gene disorders, attention has not surprisingly tu

42 tion case subjects do not have evidence of a single gene disorder, but rather have the other major ri

43 Thus, prenatal diagnosis of single gene disorders by recovering fetal cells from mat

44 Single-gene disorders can behave as complex traits, whic

45 Diagnostic testing for "single-gene" disorders can be done by targeted analysis

46 Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect

47 Sickle cell disease (SCD) is a single-gene disorder caused by a point mutation of the b

48 Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in

49 AS is a single gene disorder, caused by the loss of function of

50 Inclusion of Black individuals in whom the single-gene disorder CF is much less common but genomic

51 Neurofibromatosis Type I (NF1) is a single-gene disorder characterized by a high incidence o

52 Angelman syndrome is a single-gene disorder characterized by intellectual disab

53 ganglia encompass an expanding collection of single gene disorders collectively known as neurodegener

54 genes may confer carrier status for multiple single-gene disorders, for complex syndromes resulting f

55 The characterization of single gene disorders has provided important insights in

56 ular genetic basis of cardiac hypertrophy in single-gene disorders has been partially elucidated.

57 Not surprisingly, the genes implicated in single-gene disorders have also been shown to be linked

58 DSVs responsible for single gene disorders impart the largest effect sizes, w

59 l models, genetics, post-mortem studies, and single-gene disorders implicate synaptopathology.

60 Cystic fibrosis (CF), the most common lethal single gene disorder in Caucasians, is due to mutations

61 HPS is the most common single-gene disorder in Puerto Rico, with an incidence o

62 S is frequently fatal and is the most common single-gene disorder in Puerto Rico.

63 keratinization and one of the most frequent single-gene disorders in humans.

64 death, to our knowledge, the contribution of single-gene disorders in this group is undetermined.

65 hies are discussed as prototypic examples of single-gene disorders, including their genetics, clinica

66 to identification of the causal variants for single gene disorders is genetic linkage.

67 ed the phenotypic heterogeneity of mendelian single-gene disorders is best explained by single-nucleo

68 Huntington disease (HD), a highly penetrant, single-gene disorder, is unknown.

69 This is the first single gene disorder linked to defects in deubiquitinati

70 for mutations previously ascribed to causing single-gene disorders, map GWAS associations to likely c

71 hts gained from FXS and other autism-related single-gene disorders may also assist in identifying mol

72 Single-gene disorders may cause rare, hereditary disorde

73 Like other single-gene disorders, muscular dystrophy displays a ran

74 Single gene disorders of the autophagy pathway are an em

75 The study of single gene disorders often provides insight for more co

76 he study of autism associated with Mendelian single gene disorders or known chromosomal etiologies pr

77 The molecular characterization of single-gene disorders or chromosomal abnormalities that

78 xpression of cardiac hypertrophy, whether in single-gene disorders or in complex traits.

79 Rapid DNA sequencing is being embraced for single gene disorders, particularly for sporadic cases a

80 These single-gene disorders provide insight, indeed direct gen

81 whole-genome sequencing (WGS), many cases of single-gene disorders remain unsolved, impeding diagnosi

82 Knowledge of a disease-causing mutation in a single-gene disorder represents one of the most robust d

83 turity-onset diabetes of the young (MODY), a single-gene disorder responsible for 2-5% of NIDDM, is c

84 ic kidney disease (ADPKD) is the most common single gene disorder resulting in renal failure.

85 tions in PKD1 or PKD2 and is the most common single-gene disorder resulting in kidney failure.

86 turation are largely unclear, but studies of single-gene disorders resulting in craniofacial malforma

87 r preimplantation genetic diagnosis (PGD) of single-gene disorders (SGD), this approach can be hamper

88 Several single gene disorders share clinical and radiologic char

89 Human single gene disorders that affect the nervous system pro

90 Here we review single gene disorders that have the potential to mimic m

91 eads, with converging insights emerging from single-gene disorders that bear ASD features, with parti

92 tosis type I (NF1) is one of the most common single-gene disorders that causes learning deficits in h

93 s (NPHP)-related ciliopathies are recessive, single-gene disorders that collectively make up the most

94 Single-gene disorders that predispose to cancer afford a

95 and dissections (TAAD) can be inherited as a single-gene disorder, the genetic predisposition in the

96 However, despite being a single gene disorder, there are multiple cystic fibrosis

97 to proteomic and from the individually rare, single-gene disorders to common disorders.

98 verity, and distinctive findings suggested a single gene disorder underlying the phenotype.

99 w report the detection of point mutations in single gene disorders using this method of prenatal diag

100 s have been extensively utilized in studying single-gene disorders, where the founder effect has clea

101 with large effect sizes are responsible for single-gene disorders, whereas complex polygenic disease

102 HSCR may be inherited as a single gene disorder with reduced penetrance or as a mul

103 Single gene disorders with Mendelian inheritance pattern

104 likely results from a mix of teratogenic and single gene disorders with variable expression and incom

105 , contrasts with fragile X syndrome (FXS), a single-gene disorder with definite alterations of gene e

106 Single-gene disorders with "simple" Mendelian inheritanc

107 Autism is a complex genetic disorder, but single-gene disorders with a high prevalence of autism o

108 Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure