ライフサイエンスコーパス: hereditary disease

1 ent, epigenetics, cancer, brain function and hereditary disease.

2 effects on screening among women at risk for hereditary disease.

3 e identification of a gene responsible for a hereditary disease.

4 se of chemotherapy and failure to diagnose a hereditary disease.

5 e it is the only one to be associated with a hereditary disease.

6 has not previously been widely regarded as a hereditary disease.

7 nt retrieval on a collection of abstracts on hereditary diseases.

8 OH events, underlying human cancer and other hereditary diseases.

9 overy of chromosome 13 genes associated with hereditary diseases.

10 en shown to be responsible for about a dozen hereditary diseases.

11 g technology to correct the genetic basis of hereditary diseases.

12 th susceptibility to cancer as well as other hereditary diseases.

13 functions of this channel are known to cause hereditary diseases.

14 ng tools for long-term genetic correction of hereditary diseases.

15 s, the driving forces for carcinogenesis and hereditary diseases.

16 o provides new targeting of CAMs involved in hereditary diseases.

17 ns of the Sac3 gene have been found in human hereditary diseases.

18 eveloping treatments for MJD, HD and related hereditary diseases.

19 and coding region mutations can cause human hereditary diseases.

20 esis have been associated with several human hereditary diseases.

21 gene expression in patients with acquired or hereditary diseases.

22 e the population to more than 1000 different hereditary diseases.

23 SLC26A4) are associated with different human hereditary diseases.

24 quantifying the spinal cord abnormalities in hereditary diseases.

25 carcinoma or a variety of cancer-associated hereditary diseases.

26 tudies, cancer diagnostics, and diagnosis of hereditary diseases.

27 han 28.5 million relationships between 7,574 hereditary diseases (96% of OMIM) based on our similarit

28 patients with retinal iron overload from the hereditary disease aceruloplasminemia.

29 cause primary vesicoureteral reflux (VUR), a hereditary disease affecting approximately 1% of pregnan

30 nd patient-specific computational studies of hereditary diseases affecting the red cell cytoskeleton.

31 Hereditary diseases affecting the skeleton are heterogen

32 iciency virus, cancer, organ transplants, or hereditary disease (albinism and xeroderma pigmentosum),

33 roup of proteins known to be associated with hereditary diseases allows the detection of key distinct

34 en mapped on the human genome and a group of hereditary diseases among them have thus far proven unsu

35 ng and the fact that its deregulation causes hereditary disease and cancer.

36 e structure reveals the molecular basis of a hereditary disease and represents one of only a few stru

37 Gene delivery is a promising way to treat hereditary diseases and cancer; however, there is little

38 provides insights into the global nature of hereditary diseases and moreover can be used to predict

39 e discovery of the causative genes of common hereditary diseases and their mechanism of action.

40 CD-9-CM codes 740 to 759, plus neoplasms and hereditary diseases) and for birth defects defined as se

41 Hereditary diseases, animal models, and cell culture stu

42 These hereditary diseases are characterized by genetic anticip

43 Many hereditary diseases are characterized by region-specific

44 onsible for spinocerebellar ataxia type 1, a hereditary disease associated with protein aggregation a

45 utations supported by functional evidence or hereditary disease association to be classified either a

46 candidate genes for HPCX and multiple other hereditary diseases at Xq26.3-q27.3.

47 are some of the major manifestations of the hereditary disease ataxia telangiectasia, which is cause

48 ancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is

49 Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental p

50 seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide

51 Paramyotonia congenita (PC) is a human hereditary disease caused by one or more amino acid subs

52 ion and fusion, as evidenced not only by the hereditary diseases caused by mutations in fission/fusio

53 mann-Pick disease type C2 (NP-C2) is a fatal hereditary disease characterized by accumulation of low-

54 iple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructi

55 tients with the basal-cell nevus syndrome, a hereditary disease characterized by multiple BCCs and by

56 s of function of the RecQ helicase WRN, is a hereditary disease characterized by premature aging and

57 The hereditary disease Cockayne syndrome (CS) is a complex c

58 A and CSB, which are implicated in the human hereditary disease Cockayne syndrome, may have a role in

59 Psoriasis is a hereditary disease elicited by chronic activation of cut

60 e genome for linkage of markers with various hereditary diseases facilitates identification of affect

61 The human hereditary disease Fanconi anemia leads to severe sympto

62 Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cro

63 dered the species a powerful model for human hereditary diseases, for infectious disease agents, for

64 The same year, our father created the Hereditary Disease Foundation (HDF), dedicated to findin

65 sporadic, in rare cases, individuals have a hereditary disease, Gorlin syndrome, that predisposes to

66 east cancers, but samples from patients with hereditary disease had more frequent mutations than did

67 BGC) in human populations and its effects on hereditary disease have yet to be assessed on a genomic

68 A number of human hereditary diseases have been associated with the instab

69 erroportin cause a form of the iron overload hereditary disease hemochromatosis.

70 detection of genes likely to be involved in hereditary disease in the human genome.

71 (ADPKD) is the most common life-threatening hereditary disease in the USA.

72 eal dystrophy (GCD) is an autosomal dominant hereditary disease in which multiple discrete and irregu

73 revailing cause of dominant optic atrophy, a hereditary disease in which progressive degeneration of

74 (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opaciti

75 Cystic fibrosis (CF) is a childhood hereditary disease in which the most common mutant form

76 genomic rearrangements are common causes of hereditary diseases including hereditary nonpolyposis co

77 plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndro

78 units represent candidate genes for multiple hereditary diseases, including HPC1.

79 This hereditary disease is associated with chromosomal instab

80 Arrhythmogenic cardiomyopathy (AC) is a hereditary disease leading to sudden cardiac death or he

81 Several hereditary disease loci have been genetically mapped to

82 ble involvement in the pathogenesis of other hereditary diseases mapped to chromosome 10q24.

83 tants in these regions that give rise to the hereditary disease methemoglobinemia.

84 omas occurring spontaneously or as part of a hereditary disease neurofibromatosis type 2.

85 ip dysplasia remains one of the most serious hereditary diseases occurring in dogs despite long-stand

86 the instability of large triplet repeats in hereditary diseases occurs by a mechanism different from

87 rythropoietic protoporphyria (EPP) is a rare hereditary disease of heme biosynthesis that manifests a

88 cently isolated genes defective in the human hereditary diseases of copper metabolism, Menkes syndrom

89 ently, isolated genes defective in the human hereditary diseases of copper metabolism, namely Menkes

90 rophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in No

91 ene-based approach to identify genes causing hereditary diseases of the retina such as retinitis pigm

92 An awareness of these hereditary disease pathways to renal disease is essentia

93 Genetic variations predispose individuals to hereditary diseases, play important role in the developm

94 FAP is a hereditary disease predisposing to cancer in multiple or

95 sm for the dominant inheritance pattern of a hereditary disease resulting from mutation of the DLX3 g

96 er, the failure to warn family members about hereditary disease risks has already resulted in 3 lawsu

97 whereby gBGC causes substantial increases in hereditary disease risks.

98 Although not generally considered a hereditary disease, striking ethnic variation in prevale

99 uccessfully used in clinical trials to treat hereditary diseases such as haemophilia B, and have been

100 of NER proteins, like DDB and CSA, leads to hereditary diseases such as xeroderma pigmentosum (XP) a

101 al framework for how to deal with identified hereditary disease susceptibilities and how to return th

102 us malignant melanoma in Sinclair swine is a hereditary disease that develops in utero or during the

103 age syndrome (NBS) is an autosomal recessive hereditary disease that shares some common defects with

104 uvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in inf

105 and ligands have been linked to a variety of hereditary diseases that impact both the heart and the v

106 rimary disease severity (onset in infancy or hereditary disease), the presence of comorbidities or se

107 however, in muscle fibers from patients with hereditary disease there was no congophilia.

108 Methemoglobinemia, the first hereditary disease to be identified that involved an enz

109 Although sickle cell anemia was the first hereditary disease to be understood at the molecular lev

110 large amounts by patients suffering from the hereditary disease type I tyrosinaemia and its potent in

111 Hereditary disease was associated with 56% of bilateral

112 een for defects in the gene in patients with hereditary disease, we determined its genomic organizati

113 Additionally, 6% more abstracts on hereditary diseases were retrieved, and this percentage

114 Hermansky-Pudlak syndrome is an example of a hereditary disease whereby impaired PDI secretion contri

115 ricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10

116 titative magnetic resonance imaging in other hereditary diseases with spinal cord involvement.

117 ion that included the gene implicated in the hereditary disease xeroderma pigmentosum (XPG, also know

118 nding protein, a protein associated with the hereditary disease xeroderma pigmentosum group E, and to

119 the DDB2 gene have been correlated with the hereditary disease xeroderma pigmentosum group E.

120 (p48), in nucleotide excision repair and the hereditary disease xeroderma pigmentosum.