ライフサイエンスコーパス: Hirschsprung disease

1 roid carcinoma and intestinal aganglionosis (Hirschsprung disease).

2 luding intellectual disability, epilepsy and Hirschsprung disease.

3 th the intestinal motility disorder known as Hirschsprung disease.

4 that increase GLI activity in patients with Hirschsprung disease.

5 disrupts NCC differentiation and might cause Hirschsprung disease.

6 No patient had muscle contractures or Hirschsprung disease.

7 ce and may contribute to the pathogenesis of Hirschsprung disease.

8 on to Ret loss-of-function disorders such as Hirschsprung disease.

9 ntribute to the etiology and pathogenesis of Hirschsprung disease.

10 e carrying the Sox10Dom mutation, a model of Hirschsprung disease.

11 verity even for a multigenic disease such as Hirschsprung disease.

12 of the c-RET gene, which is often mutated in Hirschsprung disease.

13 ations in some cases of dominantly inherited Hirschsprung disease.

14 rget sequencing of DNA from 20 patients with Hirschsprung disease (16 men, 4 women), and 20 individua

15 re is strong evidence against linkage to two Hirschsprung disease (a condition that can cosegregate w

16 Genetic studies of Hirschsprung disease, a common congenital malformation,

17 Genes associated with Hirschsprung disease, a failure to form enteric ganglia

18 fied many key players in the pathogenesis of Hirschsprung disease, a large number of cases remain gen

19 RET, a gene causatively mutated in Hirschsprung disease and cancer, has recently been impli

20 ions has been identified among patients with Hirschsprung disease and multiple endocrine neoplasia ty

21 low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in

22 their potential use in cellular therapy for Hirschsprung disease and to assess differences in the pr

23 Hirschsprung disease and Waardenburg syndrome are human

24 Mutations responsible for Hirschsprung disease and Waardenburg syndrome have been

25 d development abnormalities, particularly in Hirschsprung disease, and fueled by technical advances f

26 tified 3 mutations in GLI in 5 patients with Hirschsprung disease but no controls; all lead to increa

27 ered in neuroblastoma cases with CCHS and/or Hirschsprung disease, but a comprehensive survey for mut

28 g the receptor tyrosine kinase RET result in Hirschsprung disease, cancer and renal malformations.

29 l rat, a naturally occurring rodent model of Hirschsprung disease, carries a deletion in the endothel

30 syndrome, Type IV, also known as Waardenburg-Hirschsprung disease, characterized by pigmentation and

31 emia, transient myeloproliferative disorder, Hirschsprung disease, duodenal stenosis, imperforate anu

32 fish lacking an ENS due to a mutation in the Hirschsprung disease gene, sox10, develop microbiota-dep

33 ital utilization, and surgical management of Hirschsprung disease (HD) have changed over the last dec

34 transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD).

35 transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD).

36 , the association of neuroblastoma (NB) with Hirschsprung disease (HSCR) (aganglionosis of the termin

37 Hirschsprung disease (HSCR) demonstrates a complex patte

38 The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosin

39 stal intestinal aganglionosis reminiscent of Hirschsprung disease (HSCR) in humans.

40 Hirschsprung disease (HSCR) is a common congenital disor

41 The Hirschsprung disease (HSCR) is a complex congenital diso

42 Hirschsprung disease (HSCR) is a complex disorder that e

43 Hirschsprung disease (HSCR) is a human congenital disord

44 Hirschsprung disease (HSCR) is a multifactorial, non-men

45 Hirschsprung disease (HSCR) is a multigenic neurocristop

46 Hirschsprung disease (HSCR) is a multigenic, congenital

47 Hirschsprung disease (HSCR) is a partially penetrant oli

48 The risk of Hirschsprung disease (HSCR) is approximately 15/100 000

49 Hirschsprung disease (HSCR) is caused by a reduction of

50 Cumulative evidence suggests that Hirschsprung disease (HSCR) is the consequence of multip

51 Hirschsprung disease (HSCR) is the most common cause of

52 in congenic Sox10(Dom) mice, an established Hirschsprung disease (HSCR) model, on distinct inbred ba

53 Clinical expression of Hirschsprung disease (HSCR) requires the interaction of

54 gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold.

55 ich we have recently identified a regulatory Hirschsprung disease (HSCR) susceptibility variant.

56 nnervation of the gut is segmentally lost in Hirschsprung disease (HSCR), a consequence of cell-auton

57 tal aganglionic megacolon, commonly known as Hirschsprung disease (HSCR), is the most frequent cause

58 Hirschsprung disease (HSCR), or congenital aganglionic m

59 Hirschsprung disease (HSCR), or congenital aganglionic m

60 Hirschsprung disease (HSCR), or congenital intestinal ag

61 Hirschsprung disease (HSCR), the most common hereditary

62 Hirschsprung disease (HSCR), which is congenital obstruc

63 sponsible for many human disorders including Hirschsprung disease (HSCR).

64 nteric ganglia that is a hallmark feature of Hirschsprung disease (HSCR).

65 ed distal colon aganglionosis reminiscent of Hirschsprung disease (HSCR).

66 Hirschsprung disease (HSCR, MIM #142623) is a multigenic

67 ma (FMTC), as well as some cases of familial Hirschsprung disease (HSCR1).

68 Performance of a primary ERPT for Hirschsprung disease in the newborn is an excellent opti

69 vanced the use of a primary pull-through for Hirschsprung disease in the newborn, and preliminary res

70 Hirschsprung disease is a serious disorder of enteric ne

71 Hirschsprung disease is associated with several other an

72 nalyses of stem cell function, suggests that Hirschsprung disease is caused by defects in neural cres

73 BACKGROUND & AIMS: Hirschsprung disease is caused by failure of enteric neu

74 Hirschsprung disease is characterized by a deficit in en

75 Hirschsprung disease is the most common congenital malfo

76 nderscored by the effects of its mutation in Hirschsprung disease, leading to absence of gut innervat

77 expressivity, suggesting that some cases of Hirschsprung disease might be preventable by optimizing

78 is a non-genetic risk factor that increases Hirschsprung disease penetrance and expressivity, sugges

79 influencing PKCzeta or GSK3beta might alter Hirschsprung disease penetrance or expressivity by affec

80 Patients with Hirschsprung disease presenting with such mutations shou

81 PN22), prostate cancer (DG8S737, rs1447295), Hirschsprung disease (RET), and age-related macular dege

82 ver, 80% of HSCR patients have short-segment Hirschsprung disease (S-HSCR), which has not been associ

83 Patients with Hirschsprung disease suffer from gastrointestinal motili

84 umor suppressor and the currently identified Hirschsprung disease susceptibility genes.

85 between loss of Ret and loss of Sema3d, two Hirschsprung disease susceptibility genes.

86 egion of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis).

87 use developmental defects in humans, such as Hirschsprung disease, velocardiofacial syndrome and rela

88 the potential for autologous transplants in Hirschsprung disease, we observed that Endothelin recept

89 applying our method to simulated data and to Hirschsprung disease, we show that it can detect both co

90 Rare families with both MEN 2 and Hirschsprung disease were found to have MEN 2-specific c

91 -function mutations in RET are implicated in Hirschsprung disease, whereas activating mutations in RE

92 well as the RET G731del mutation that causes Hirschsprung disease with total colonic aganglionosis, r

93 A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neu