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1 ritical impact on the molecular diagnosis of Alagille syndrome.
2 reatment paradigm for chronic cholestasis in Alagille syndrome.
3 a primary cause of the multi-system disorder Alagille syndrome.
4 maralixibat for children with cholestasis in Alagille syndrome.
5 using Jag1Ndr/Ndr mice, which are a model of Alagille syndrome.
6 al disease model with a similar phenotype to Alagille syndrome.
7 Notch2 haploinsufficiency is associated with Alagille syndrome.
8 ulated the midfacial hypoplasia phenotype of Alagille syndrome.
9 d not recapitulate the midface hypoplasia of Alagille syndrome.
10  adult mice that are reminiscent of those in Alagille syndrome.
11 rtical infarcts and leukoencephalopathy) and Alagille syndrome.
12 -causing gene for the developmental disorder Alagille syndrome.
13 evelopmental abnormalities characteristic of Alagille syndrome.
14 ptors, cause the autosomal dominant disorder Alagille syndrome.
15  surgery type other than complete repair and Alagille syndrome.
16 aracteristic of Cm /+ mice or of humans with Alagille syndrome.
17 as been shown to be haploinsufficient in the Alagille syndrome.
18 ding evidence that it is the causal gene for Alagille syndrome.
19                                              Alagille syndrome, a chronic hepatobiliary disease, is c
20                                              Alagille syndrome (AGS) causes intractable pruritus and
21                                              Alagille syndrome (AGS) is a dominantly inherited disord
22                                              Alagille syndrome (AGS) is a dominantly inherited disord
23                                              Alagille syndrome (AGS) is a dominantly inherited multis
24                                          The Alagille Syndrome (AGS) is a heritable disorder affectin
25                                              Alagille syndrome (AGS) is a heterogeneous developmental
26                                              Alagille syndrome (AGS) is an autosomal dominant disorde
27                                              Alagille syndrome (AGS) is an autosomal-dominant disorde
28                                              Alagille syndrome (AGS) is caused by heterozygous mutati
29                                              Alagille syndrome (AGS) is caused by mutations in the ge
30 erozygous Jagged1 knockout mice, a model for Alagille Syndrome (AGS), also display stapes and incus d
31 ously described clinical syndrome, including Alagille syndrome (AGS), caused by haploinsufficiency fo
32 a Notch ligand, have been shown to result in Alagille syndrome (AGS), however, the causal link betwee
33 G1) result in a multi-system disorder called Alagille syndrome (AGS).
34 Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome (AGS).
35 ligand in the Notch signaling pathway, cause Alagille syndrome (AGS).
36 malies are among the most common features of Alagille syndrome (AGS).
37 ing pathway and mutations in this gene cause Alagille syndrome (AGS).
38 d in humans, since Notch2 mutations occur in Alagille syndrome (ALGS) 2 patients, which includes rena
39                                              Alagille syndrome (ALGS) is a multisystem developmental
40                                              Alagille syndrome (ALGS) is characterized by chronic cho
41 ically diagnosed children, including 20 with Alagille syndrome (ALGS), 16 with familial intrahepatic
42 city is characteristic of children born with Alagille Syndrome (ALGS), a disease associated with JAGG
43                             In patients with Alagille syndrome (ALGS), bile duct paucity often leads
44                For example, in patients with Alagille syndrome (ALGS), which is a genetic disease pri
45  liver transplantation (LT) in patients with Alagille syndrome (ALGS).
46  chronic intrahepatic cholestasis (CIC), and Alagille syndrome (ALGS).
47 1 antitrypsin deficiency (A1AT; n = 78), and Alagille syndrome (ALGS; n = 65) and correlated with liv
48 for clinical variant classification both for Alagille syndrome and globally across other disease gene
49  spectrum of cardiac phenotypes displayed in Alagille Syndrome and it demonstrates a crucial role for
50 model can be used to study other features of Alagille syndrome and organ development.
51 e a variety of congenital diseases including Alagille Syndrome and polycystic liver disease.
52  create a more representative mouse model of Alagille syndrome and provides a possible explanation of
53 ormalities of the JAG1 gene as the basis for Alagille syndrome and some cases of isolated tetralogy o
54 enetic disorders, including cystic fibrosis, Alagille syndrome, and Duchenne muscular dystrophy.
55  in conotruncal defects, Holt-Oram syndrome, Alagille syndrome, and total anomalous pulmonary venous
56 NA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahe
57 ith the JAG1/NOTCH2-related genetic disorder Alagille syndrome can thus experience hearing loss.
58                      JAGGED1 mutations cause Alagille syndrome, comprising a constellation of clinica
59 rom a CpG island in a YAC clone covering the Alagille syndrome critical region at chromosome 20p12 (t
60 portant Notch transmembrane receptor, to the Alagille syndrome critical region within 20p12.
61 S162 and D20S894 , an area that includes the Alagille syndrome critical region.
62 se physical location of this gene within the Alagille syndrome critical region.
63 dr/Ndr) livers and livers from patients with Alagille syndrome, cross-referenced to the Human Protein
64 ies, one baby, who was born to a mother with Alagille syndrome, died from congenital birth defects.
65 viduals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for th
66 phic mutations in the gene encoding Jagged1 (Alagille syndrome) failed to mount appropriate T(H)1 res
67  distinct coding mutations in JAG1 from four Alagille syndrome families, providing evidence that it i
68 Hepatocyte organoids have been used to study Alagille syndrome, fatty liver disease, Wilson disease,
69                                Patients with Alagille syndrome have midface hypoplasia giving them a
70             On multivariable Cox regression, Alagille syndrome (HR: 2.8; 95% CI: 1.4-5.7; P = 0.004),
71 of liver tissues from mice and patients with Alagille syndrome identified dysregulated genes encoding
72      Jag1(Ndr/Ndr) mice had many features of Alagille syndrome, including eye, heart, and liver defec
73                           BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by
74                                              Alagille syndrome is a human autosomal dominant developm
75                                              Alagille syndrome is a rare genetic disease that often p
76                                              Alagille syndrome is an autosomal dominant disorder caus
77                                              Alagille syndrome is an autosomal dominant disorder char
78                                              Alagille syndrome is an autosomal dominant disorder char
79                                              Alagille syndrome is caused by mutations in the Jagged 1
80 e characterized by reduced numbers of IHBDs, Alagille syndrome, is associated with mutations in Notch
81 nciple, we applied DUCT to a mouse model for Alagille syndrome (Jag1(Ndr/Ndr) mice), characterized by
82 bl6 background to generate a mouse model for Alagille syndrome (Jag1(Ndr/Ndr) mice).
83                             In children with Alagille syndrome, maralixibat is, to our knowledge, the
84 ated with defective Notch signaling, such as Alagille syndrome, maybe mechanistically related to cili
85 n-Williams familial arteriopathy (n=12), and Alagille syndrome (n=3).
86 extension in children (aged 1-18 years) with Alagille syndrome (NCT02160782).
87 cular structural defects of Marfan syndrome, Alagille syndrome, neurofibromatosis, and Cockayne's syn
88                                 Up to 40% of Alagille syndrome patients also display exocrine pancrea
89       The majority of JAG1 mutations seen in Alagille syndrome patients are null alleles, suggesting
90 noids from alpha1-antitrypsin deficiency and Alagille syndrome patients mirror the in vivo pathology.
91                                              Alagille syndrome patients present with loss of function
92 Jagged1-deficient mice and, by corollary, in Alagille syndrome patients.
93 e variable phenotypic expression observed in Alagille syndrome patients.
94 t exhibit other phenotypes characteristic of Alagille syndrome patients.
95 is gene is one of the mechanisms causing the Alagille syndrome phenotype.
96 upts bile duct development and recapitulates Alagille syndrome phenotypes in heart, eye, and craniofa
97 e use CLCs to model in vitro key features of Alagille syndrome, polycystic liver disease and cystic f
98                             For Angelman and Alagille syndromes, single genes have been identified, w
99 nts underlie three inherited human diseases: Alagille syndrome, spondylocostal dysostosis, and cerebr
100 ses affecting the skeletal tissue, including Alagille syndrome, spondylocostal dysostosis, and possib
101    The patient was a 2.5-year-old child with Alagille syndrome suffering from tetralogy of Fallot wit
102 lly detectable deletions including JAG1 have Alagille syndrome, supporting the hypothesis that haploi
103         We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms.
104 iliary cirrhosis and biliary atresia or with Alagille syndrome, two major pediatric cholestatic condi
105 inst Notch-based diseases (e.g. Alzheimer's, Alagille Syndrome, various cancers and other disease sta
106     In two of the families, the diagnosis of Alagille syndrome was further established in one infant
107 ic variant in JAG1, the gene associated with Alagille syndrome, was identified in three large familie
108 s of function of JAGGED1 in humans can cause Alagille syndrome, which has craniosynostosis as a featu
109 ltisystem autosomal dominant disorder called Alagille syndrome, which includes tetralogy of Fallot am
110 omal-dominant, multisystem disorder known as Alagille syndrome, which is characterized by a congenita

 
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