Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.
|
23430799 |
2013 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.
|
23341816 |
2012 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.
|
20151198 |
2010 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
|
20232099 |
2010 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
|
19748572 |
2009 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
|
19344718 |
2009 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.
|
18280229 |
2008 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.
|
17294068 |
2007 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.
|
17437622 |
2007 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
|
16178026 |
2005 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
|
16178026 |
2005 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.
|
15742109 |
2005 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.
|
16198108 |
2005 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
|
14757860 |
2004 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.
|
15505189 |
2004 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MNGIE: diarrhea and leukoencephalopathy.
|
12084896 |
2002 |
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability in a Spanish family with MNGIE.
|
12177387 |
2002 |