(Q37065180)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18220287%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR (English)

1 reference

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1 January 2020

7

1 reference

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1 January 2020

Richard J Smith

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18220287%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

5

Cor W R J Cremers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18220287%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Dana J Orten

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18220287%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Stephanie M Fischer

2

1 reference

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1 January 2020

Jessica L Sorensen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18220287%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Uppala Radhakrishna

4

1 reference

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1 January 2020

Henri A M Marres

6

1 reference

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1 January 2020

Katherine O Welch

8

1 reference

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1 January 2020

William J Kimberling

10

1 reference

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1 January 2020

publication date

1 April 2008

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1 January 2020

1 reference

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1 January 2020

volume

29

1 reference

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1 January 2020

issue

4

1 reference

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1 January 2020

page(s)

537-544

1 reference

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Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

1 January 2020

cites work

1 reference

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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

21 January 2018

1 reference

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ConSeq: the identification of functionally and structurally important residues in protein sequences.

21 January 2018

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The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye.

21 January 2018

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21 January 2018

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Genetic determination of nephrogenesis: the Pax/Eya/Six gene network.

21 January 2018

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Induction and specification of the vertebrate ectodermal placodes: precursors of the cranial sensory organs

21 January 2018

1 reference

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Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome

21 January 2018

1 reference

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Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study

21 January 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

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Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development

21 January 2018

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Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

21 January 2018

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Phenotypic manifestations of branchio-oto-renal syndrome.

21 January 2018

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Method of predicting splice sites based on signal interactions

21 January 2018

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The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

21 January 2018

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The earpits-deafness syndrome. Clinical and genetic aspects.

21 January 2018

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The cellular basis of kidney development

21 January 2018

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A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype

21 January 2018

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RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

21 January 2018

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Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

21 January 2018

1 reference

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The molecular basis of neurosensory cell formation in ear development: a blueprint for hair cell and sensory neuron regeneration?

21 January 2018

1 reference

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Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.

21 January 2018

1 reference

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Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome

21 January 2018

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Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome

21 January 2018

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Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

21 January 2018

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Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family

21 January 2018

1 reference

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Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20691

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20691

Identification of two major loci that suppress hearing loss and cochlear dysmorphogenesis in Eya1bor/bor mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20691

Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20691

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

21 January 2018

1 reference

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SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

21 January 2018

1 reference

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Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

21 January 2018

1 reference

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An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

21 January 2018

1 reference

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Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

21 January 2018

1 reference

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Folic acid supplements and risk of facial clefts: national population based case-control study

21 January 2018

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A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10

21 January 2018

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Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome

21 January 2018

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Methylation-dependent transition rates are dependent on local sequence lengths and genomic regions.

21 January 2018

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Eya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes

21 January 2018

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A family affected by branchio-oto syndrome with EYA1 mutations

21 January 2018

1 reference

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Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

21 January 2018

1 reference

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Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation

21 January 2018

1 reference

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7 January 2021

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

1 reference

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7 January 2021

Congenital pre-auricular fistula communicating with the tympanic cavity

1 reference

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7 January 2021

Neo-oval window technique and myringo-chorda-vestibulopexy in the BOR syndrome

1 reference

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7 January 2021

Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome

1 reference

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7 January 2021

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

1 reference

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7 January 2021

Gene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition

1 reference

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7 January 2021

Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya

1 reference

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7 January 2021

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

1 reference

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7 January 2021