ライフサイエンスコーパス: single gene disorder

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

27 Several single gene disorders are associated with allergic disea

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

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

30 Single-gene disorders associated with neurodevelopmental

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

58 Single-gene disorders may cause rare, hereditary disorde

59 Single gene disorders of the autophagy pathway are an em

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

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

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

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

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

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

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

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

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

69 Several single gene disorders share clinical and radiologic char

70 Human single gene disorders that affect the nervous system pro

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

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

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

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

75 Single-gene disorders that predispose to cancer afford a

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

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

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

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

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

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

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

83 Single gene disorders with Mendelian inheritance pattern

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

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

86 Single-gene disorders with "simple" Mendelian inheritanc

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

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