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 otide repeat instability underlies >20 human hereditary disorders.

3 ereas iron excess is usually associated with hereditary disorders.

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

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

6 ith polyclonal hematopoiesis might represent hereditary disorders.

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

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

9 These hereditary disorders are known collectively as frontotem

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

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

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

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

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

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

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

17 Other hereditary disorders cause hemodynamic process that resu

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

41 Expansions of DNA repeats cause hereditary disorders in humans.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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