|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
Together, these data demonstrate that the L236P mouse phenotype is more similar to the human phenotype and should be used as a tool for further research into the human Pendred syndrome.
|
31155292 |
2019 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
|
15689455 |
2005 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
14679580 |
2004 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
|
12974744 |
2003 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
|
12788906 |
2003 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
|
11919333 |
2002 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
|
12354788 |
2002 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
|
11375792 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
|
11317356 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in the pendrin gene associated with Pendred's syndrome.
|
10718825 |
2000 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
|
10878664 |
2000 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
|
10602116 |
2000 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of the PDS gene in Pendred syndrome.
|
9618167 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of the PDS gene in Pendred syndrome.
|
9618167 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
|
9398842 |
1997 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
|
24051746 |
2013 |