Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Jagged1 (JAG1): Structure, expression, and disease associations.
|
26548814 |
2016 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Verify the involvement of JAG1 variants in the pathogenesis of congenital thyroid defects and the frequency of unexplained hypothyroidism in a series of ALGS1 patients.
|
26760175 |
2016 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
|
25676721 |
2015 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
|
26076142 |
2015 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
|
24748328 |
2014 |
Alagille Syndrome 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical utility gene card for: Alagille Syndrome (ALGS).
|
23881058 |
2014 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.
|
23801938 |
2013 |
Alagille Syndrome 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Moyamoya vascular pattern in Alagille syndrome.
|
22759690 |
2012 |
Alagille Syndrome 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Renal anomalies in Alagille syndrome: a disease-defining feature.
|
22105858 |
2012 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
|
22487239 |
2012 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
|
22488849 |
2012 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
|
22487239 |
2012 |
Alagille Syndrome 1
|
0.710 |
Biomarker
|
disease |
CTD_human |
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
|
21532573 |
2011 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
|
20437614 |
2010 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
|
16575836 |
2006 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
|
16575836 |
2006 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
|
15712272 |
2005 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
|
15712272 |
2005 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
|
12497640 |
2003 |
Alagille Syndrome 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
|
12442286 |
2002 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
|
12442286 |
2002 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
|
11180599 |
2001 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
|
11157803 |
2001 |
Alagille Syndrome 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.
|
11139247 |
2001 |