戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 roid carcinoma and intestinal aganglionosis (Hirschsprung disease).
2 d has a putative role in the pathogenesis of Hirschsprung disease.
3 g preterm infants without cystic fibrosis or Hirschsprung disease.
4 ent cause colonic aganglionosis, also called Hirschsprung disease.
5  fibrosis and 15% of colonic obstructions to Hirschsprung disease.
6 on to Ret loss-of-function disorders such as Hirschsprung disease.
7 luding intellectual disability, epilepsy and Hirschsprung disease.
8 th the intestinal motility disorder known as Hirschsprung disease.
9  that increase GLI activity in patients with Hirschsprung disease.
10 disrupts NCC differentiation and might cause Hirschsprung disease.
11        No patient had muscle contractures or Hirschsprung disease.
12 ce and may contribute to the pathogenesis of Hirschsprung disease.
13 ntribute to the etiology and pathogenesis of Hirschsprung disease.
14 e carrying the Sox10Dom mutation, a model of Hirschsprung disease.
15 verity even for a multigenic disease such as Hirschsprung disease.
16 of the c-RET gene, which is often mutated in Hirschsprung disease.
17 ations in some cases of dominantly inherited Hirschsprung disease.
18 rget sequencing of DNA from 20 patients with Hirschsprung disease (16 men, 4 women), and 20 individua
19 re is strong evidence against linkage to two Hirschsprung disease (a condition that can cosegregate w
20                           Genetic studies of Hirschsprung disease, a common congenital malformation,
21                        Genes associated with Hirschsprung disease, a failure to form enteric ganglia
22 fied many key players in the pathogenesis of Hirschsprung disease, a large number of cases remain gen
23  including hypertensive cardiac hypertrophy, Hirschsprung disease and blood vessel formation.
24           RET, a gene causatively mutated in Hirschsprung disease and cancer, has recently been impli
25  of gut neurodevelopmental disorders such as Hirschsprung disease and congenital enteric neuropathies
26 n may not be required to explain co-existing Hirschsprung disease and MEN-associated tumors, but rath
27 ions has been identified among patients with Hirschsprung disease and multiple endocrine neoplasia ty
28  low penetrance susceptibility mutations for Hirschsprung disease and the R93W was not identified in
29  their potential use in cellular therapy for Hirschsprung disease and to assess differences in the pr
30                                              Hirschsprung disease and Waardenburg syndrome are human
31                    Mutations responsible for Hirschsprung disease and Waardenburg syndrome have been
32 41 (2.2%) had cystic fibrosis, 60 (3.3%) had Hirschsprung disease, and 1743 (94.5%) had neither predi
33 MRO cases per 100 000 births associated with Hirschsprung disease, and 187.3 MRO cases per 100 000 bi
34 d development abnormalities, particularly in Hirschsprung disease, and fueled by technical advances f
35 tified 3 mutations in GLI in 5 patients with Hirschsprung disease but no controls; all lead to increa
36 ered in neuroblastoma cases with CCHS and/or Hirschsprung disease, but a comprehensive survey for mut
37 g the receptor tyrosine kinase RET result in Hirschsprung disease, cancer and renal malformations.
38 l rat, a naturally occurring rodent model of Hirschsprung disease, carries a deletion in the endothel
39 syndrome, Type IV, also known as Waardenburg-Hirschsprung disease, characterized by pigmentation and
40 emia, transient myeloproliferative disorder, Hirschsprung disease, duodenal stenosis, imperforate anu
41 fish lacking an ENS due to a mutation in the Hirschsprung disease gene, sox10, develop microbiota-dep
42  regions from colon tissues of patients with Hirschsprung disease had ganglia in multiple layers and
43 ital utilization, and surgical management of Hirschsprung disease (HD) have changed over the last dec
44                                              Hirschsprung disease (HD) is a congenital disorder in th
45 transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD).
46 , the association of neuroblastoma (NB) with Hirschsprung disease (HSCR) (aganglionosis of the termin
47           The major genetic risk factors for Hirschsprung disease (HSCR) are three common polymorphis
48 heterogeneity, 72% of pathogenic alleles for Hirschsprung disease (HSCR) arise from coding and regula
49                                              Hirschsprung disease (HSCR) demonstrates a complex patte
50                           The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosin
51                                              Hirschsprung disease (HSCR) exhibits extensive genetic h
52 stal intestinal aganglionosis reminiscent of Hirschsprung disease (HSCR) in humans.
53                                              Hirschsprung disease (HSCR) is a common cause of intesti
54                                              Hirschsprung disease (HSCR) is a common congenital disor
55                                          The Hirschsprung disease (HSCR) is a complex congenital diso
56                                              Hirschsprung disease (HSCR) is a complex disorder that e
57                                              Hirschsprung disease (HSCR) is a congenital condition ch
58                                              Hirschsprung disease (HSCR) is a human congenital disord
59                                              Hirschsprung disease (HSCR) is a life-threatening birth
60                                              Hirschsprung disease (HSCR) is a multifactorial, non-men
61                                              Hirschsprung disease (HSCR) is a multigenic neurocristop
62                                              Hirschsprung disease (HSCR) is a multigenic, congenital
63                                              Hirschsprung disease (HSCR) is a neurocristopathy, yet p
64                                              Hirschsprung disease (HSCR) is a partially penetrant oli
65                                              Hirschsprung disease (HSCR) is a rare congenital intesti
66                                  The risk of Hirschsprung disease (HSCR) is approximately 15/100 000
67                                              Hirschsprung disease (HSCR) is caused by a reduction of
68                                              Hirschsprung disease (HSCR) is characterized by absence
69            Cumulative evidence suggests that Hirschsprung disease (HSCR) is the consequence of multip
70                                              Hirschsprung disease (HSCR) is the most common cause of
71                                              Hirschsprung disease (HSCR) is the most frequent develop
72  in congenic Sox10(Dom) mice, an established Hirschsprung disease (HSCR) model, on distinct inbred ba
73                       Clinical expression of Hirschsprung disease (HSCR) requires the interaction of
74                                              Hirschsprung disease (HSCR) results from defects in ENS
75                                              Hirschsprung disease (HSCR) results from incomplete NCC
76 gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold.
77 red the most preferable treatment method for Hirschsprung disease (HSCR) since it is less invasive an
78 ich we have recently identified a regulatory Hirschsprung disease (HSCR) susceptibility variant.
79 ts in RET and NRG1 have been associated with Hirschsprung disease (HSCR), a congenital disorder chara
80 nnervation of the gut is segmentally lost in Hirschsprung disease (HSCR), a consequence of cell-auton
81                                              Hirschsprung disease (HSCR), a multifactorial disorder o
82         Loss-of-function RET mutations cause Hirschsprung disease (HSCR), in which infants are born w
83 rom homozygous Ret null embryos, a model for Hirschsprung disease (HSCR), in which the ENS is absent.
84 tal aganglionic megacolon, commonly known as Hirschsprung disease (HSCR), is the most frequent cause
85                                              Hirschsprung disease (HSCR), or congenital aganglionic m
86                                              Hirschsprung disease (HSCR), or congenital aganglionic m
87                                              Hirschsprung disease (HSCR), or congenital intestinal ag
88                                              Hirschsprung disease (HSCR), the most common hereditary
89                                              Hirschsprung disease (HSCR), which is congenital obstruc
90 ET loss of function (LoF) is associated with Hirschsprung disease (HSCR), which is marked by aganglio
91 ir relevance to the human congenital disease Hirschsprung disease (HSCR).
92 sponsible for many human disorders including Hirschsprung disease (HSCR).
93 nteric ganglia that is a hallmark feature of Hirschsprung disease (HSCR).
94 ed distal colon aganglionosis reminiscent of Hirschsprung disease (HSCR).
95                                              Hirschsprung disease (HSCR, MIM #142623) is a multigenic
96 ma (FMTC), as well as some cases of familial Hirschsprung disease (HSCR1).
97            Performance of a primary ERPT for Hirschsprung disease in the newborn is an excellent opti
98 vanced the use of a primary pull-through for Hirschsprung disease in the newborn, and preliminary res
99                                              Hirschsprung disease is a serious disorder of enteric ne
100                                              Hirschsprung disease is associated with several other an
101 nalyses of stem cell function, suggests that Hirschsprung disease is caused by defects in neural cres
102                           BACKGROUND & AIMS: Hirschsprung disease is caused by failure of enteric neu
103                                              Hirschsprung disease is characterized by a deficit in en
104                                              Hirschsprung disease is the most common congenital malfo
105 nderscored by the effects of its mutation in Hirschsprung disease, leading to absence of gut innervat
106  expressivity, suggesting that some cases of Hirschsprung disease might be preventable by optimizing
107  disorders, including the congenital disease Hirschsprung disease, or various other functional gut ne
108  is a non-genetic risk factor that increases Hirschsprung disease penetrance and expressivity, sugges
109  influencing PKCzeta or GSK3beta might alter Hirschsprung disease penetrance or expressivity by affec
110                                Patients with Hirschsprung disease presenting with such mutations shou
111 PN22), prostate cancer (DG8S737, rs1447295), Hirschsprung disease (RET), and age-related macular dege
112 ver, 80% of HSCR patients have short-segment Hirschsprung disease (S-HSCR), which has not been associ
113                                Patients with Hirschsprung disease suffer from gastrointestinal motili
114  between loss of Ret and loss of Sema3d, two Hirschsprung disease susceptibility genes.
115 umor suppressor and the currently identified Hirschsprung disease susceptibility genes.
116 ong infants with neither cystic fibrosis nor Hirschsprung disease, those with gestational ages from 2
117 egion of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis).
118 use developmental defects in humans, such as Hirschsprung disease, velocardiofacial syndrome and rela
119         Colon from 2 pediatric patients with Hirschsprung disease was used to show distal colon witho
120  the potential for autologous transplants in Hirschsprung disease, we observed that Endothelin recept
121 applying our method to simulated data and to Hirschsprung disease, we show that it can detect both co
122            Rare families with both MEN 2 and Hirschsprung disease were found to have MEN 2-specific c
123                     Both Cre lines result in Hirschsprung disease when combined with conditional Ednr
124  example, leads to intestinal aganglionosis (Hirschsprung disease), whereas overactive RET can lead t
125 -function mutations in RET are implicated in Hirschsprung disease, whereas activating mutations in RE
126       Compromised ENCC migration can lead to Hirschsprung disease, which is characterized by an agang
127 well as the RET G731del mutation that causes Hirschsprung disease with total colonic aganglionosis, r
128            A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neu

 
Page Top