ライフサイエンスコーパス: hereditary disorder

1 natal diagnosis and carrier detection of the hereditary disorder.

2 ereas iron excess is usually associated with hereditary disorders.

3 ith polyclonal hematopoiesis might represent hereditary disorders.

4 otide repeat instability underlies >20 human hereditary disorders.

5 denominator in the pathomechanisms of these hereditary disorders.

6 he site of well-characterised autoimmune and hereditary disorders.

7 se significant mortality, and >20% relate to hereditary disorders.

8 fecta (MIM 301200), a phenotypically diverse hereditary disorder affecting enamel development, is cau

9 utation is associated with developmental and hereditary disorders, aging, and cancer.

10 These hereditary disorders are known collectively as frontotem

11 associated with cancer and developmental and hereditary disorders, as well as biologic processes such

12 omal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from

13 Ciliopathies are a group of hereditary disorders associated with defects in cilia st

14 curring mutations in alphaTTP that cause the hereditary disorder ataxia with vitamin E deficiency dim

15 in human cancer; (b) we have found that the hereditary disorder Beckwith-Wiedemann syndrome, which p

16 an potentially expand the screening for rare hereditary disorders, but many questions surround its po

17 A category of hereditary disorders called the phakomatoses provide a p

18 s opens new perspectives for gene therapy of hereditary disorders, cardiovascular diseases, and cance

19 sequencing data from diagnostic testing for hereditary disorders, carrier screening, or preventive g

20 Other hereditary disorders cause hemodynamic process that resu

21 of human maple syrup urine disease (MSUD), a hereditary disorder caused by defects in BCKD activity.

22 ndrome is a premature aging and cancer-prone hereditary disorder caused by deficiency of the WRN prot

23 atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations

24 rotic plaques, but it can also manifest as a hereditary disorder caused by mutations of the APOA1 gen

25 n implicated in numerous diseases, including hereditary disorders caused by defects in genes encoding

26 taxia type 3 (SCA3) is an autosomal dominant hereditary disorder, caused by an expansion of polygluta

27 These hereditary disorders, caused by mutations in genes encod

28 beta-Thalassemia (BT) is a hereditary disorder characterized by altered hemoglobin

29 Congenital motor nystagmus (CMN) is a hereditary disorder characterized by bilateral ocular os

30 derived from patients with Fanconi anemia, a hereditary disorder characterized by bone marrow failure

31 lasia type 1 (MEN1) is an autosomal dominant hereditary disorder characterized by multiple parathyroi

32 ne neoplasia type 1 is an autosomal dominant hereditary disorder characterized by multiple parathyroi

33 h Beckwith-Wiedemann syndrome, a pleiotropic hereditary disorder characterized by overgrowth and pred

34 ity of Cockayne syndrome (CS), a devastating hereditary disorder characterized by physical impairment

35 Bloom syndrome (BS) is a hereditary disorder characterized by pre- and postnatal

36 Usher syndrome (USH) is a human hereditary disorder characterized by profound congenital

37 type (WT) and col4alpha5 knockout AS mice, a hereditary disorder characterized by progressive renal f

38 Werner syndrome is a hereditary disorder characterized by the early onset of

39 inant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by the progressive enl

40 s of individuals with Cockayne's syndrome, a hereditary disorder characterized by transcription-coupl

41 torage diseases are a heterogeneous group of hereditary disorders characterized by a deficiency in ly

42 genital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morpholog

43 Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weak

44 The defective gene in this hereditary disorder, CLN2, encodes a recently identified

45 Gene therapy to treat hereditary disorders conventionally delivers the normal

46 d epidemiologists often observe that certain hereditary disorders cooccur in individual patients sign

47 Wilson's disease (WD) is a rare hereditary disorder due to ATP7B gene mutation, causing

48 he previous decade, there remain a number of hereditary disorders for which a causative gene has yet

49 Single-gene disorders may cause rare, hereditary disorders for which stroke is a primary manif

50 Cystinuria is an autosomal recessive hereditary disorder in which high urinary cystine excret

51 Nearly 30 hereditary disorders in humans result from an increase i

52 Expansions of DNA repeats cause hereditary disorders in humans.

53 e pathway can cause a variety of somatic and hereditary disorders in humans.

54 ns of DNA repeats are implicated in numerous hereditary disorders in humans.

55 ions for genetic counseling of families with hereditary disorders, information regarding the incidenc

56 ditary lymphedema, and LD is only the second hereditary disorder known to be caused by a mutation in

57 Alport syndrome is a progressive, hereditary disorder of basement membranes caused by vari

58 Alport syndrome is a hereditary disorder of basement membranes especially aff

59 Canavan's disease (CD) is a fatal, hereditary disorder of CNS development that has been lin

60 Chronic granulomatous disease (CGD) is a hereditary disorder of host defense due to absent or dec

61 slow-channel myasthenic syndrome (SCS) is a hereditary disorder of the acetylcholine receptor (AChR)

62 mann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by

63 recently have been shown to underlie several hereditary disorders of bone development, with specific

64 syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common f

65 tionized the diagnosis and treatment of rare hereditary disorders of FGF23 excess that cause hypophos

66 Knowledge of the genetic basis of these hereditary disorders of phosphate homeostasis and studie

67 In human megakaryopoiesis, hereditary disorders of platelet production have confirm

68 have resulted in the identification of rare hereditary disorders of renal magnesium and salt handlin

69 tments of demyelinating disease, stroke, and hereditary disorders of the central nervous system.

70 This model proposes that hereditary disorders of the epigenetic apparatus lead to

71 pigmentosa (RP) is a heterogeneous group of hereditary disorders of the retina caused by mutation in

72 d oocyte-derived mRNA, and define a group of hereditary disorders plausibly modulated by dietary vita

73 Genetic studies of complex hereditary disorders require for their mapping the deter

74 nfected RBCs (Pf-RBCs) and defective RBCs in hereditary disorders, such as spherocytosis and elliptoc

75 olycystic kidney disease (ADPKD) is a common hereditary disorder that accounts for 8-10% of end stage

76 Waardenburg syndrome (WS) is a hereditary disorder that causes hypopigmentation and hea

77 reakage syndrome, a rare autosomal recessive hereditary disorder that imparts an increased predisposi

78 Androgenetic alopecia (AGA), a hereditary disorder that involves the progressive thinni

79 s function is impaired in Alport syndrome, a hereditary disorder that is caused by mutations in the g

80 Huntington's disease (HD) is a hereditary disorder that typically manifests in adulthoo

81 molybdenum cofactor (MoCo) deficiencies are hereditary disorders that affect the catabolism of sulfu

82 h genetic diseases which affect the eyelids, hereditary disorders that affect the lacrimal system are

83 s, a heterogenous group of neurodegenerative hereditary disorders that include chorea-acanthocytosis

84 tein 32 (TRIM32) are responsible for several hereditary disorders that include limb girdle muscular d

85 ing h-BAG1 to 9p12, a region associated with hereditary disorders that may involve developmental dysr

86 re for identifying loci associated with rare hereditary disorders using Bayesian model comparison.

87 Paramyotonia congenita (PC) is a human hereditary disorder wherein missense mutations in the sk

88 beta-thalassemia is a hereditary disorder with limited approved treatment opti

89 he linkage of mutations in helicase genes to hereditary disorders with defects in DNA repair, the rep

90 Retinal dystrophy (RD) is a broad group of hereditary disorders with heterogeneous genotypes and ph

91 re analysis of possible association of human hereditary disorders with mutations in LHX5.

92 also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from gene