|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Alport syndrome: impact of digenic inheritance in patients management.
|
27859054 |
2017 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.
|
27725546 |
2017 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
|
28013382 |
2017 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.
|
28570636 |
2017 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
|
26934356 |
2016 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
|
26809805 |
2016 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
|
26581810 |
2016 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
|
26934356 |
2016 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.
|
26866448 |
2016 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
|
26809805 |
2016 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
|
25307721 |
2015 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
|
26168235 |
2015 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
|
24033287 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
|
24854265 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
|
24522658 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
|
24304881 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.
|
24337245 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
|
24033287 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
|
24522658 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
Biomarker
|
disease |
MGD |
Mechanical response of wild-type and Alport murine lens capsules during osmotic swelling.
|
23707242 |
2013 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
|
23732293 |
2013 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family.
|
23085274 |
2013 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
|
21332469 |
2012 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome.
|
22921432 |
2012 |
|
ALPORT SYNDROME 1, X-LINKED
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.
|
21143337 |
2011 |