(Q55140300)

22 June 2018

title

HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. (English)

1 reference

22 June 2018

12

Pawel Stankiewicz

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22 June 2018

author name string

Amarilis Sanchez-Valle

1

1 reference

22 June 2018

Xueqing Wang

2

1 reference

22 June 2018

Lorraine Potocki

3

1 reference

22 June 2018

Zhilian Xia

4

1 reference

22 June 2018

Sung-Hae L Kang

5

1 reference

22 June 2018

Mary E Carlin

6

1 reference

22 June 2018

Donnice Michel

7

1 reference

22 June 2018

Patricia Williams

8

1 reference

22 June 2018

Gerardo Cabrera-Meza

9

1 reference

22 June 2018

Ellen K Brundage

10

1 reference

22 June 2018

Anna L Eifert

11

1 reference

22 June 2018

Sau Wai Cheung

13

1 reference

22 June 2018

Seema R Lalani

14

1 reference

22 June 2018

language of work or name

English

0 references

publication date

1 November 2010

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22 June 2018

American Journal of Medical Genetics

published in

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22 June 2018

volume

152A

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22 June 2018

issue

11

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22 June 2018

page(s)

2854-2860

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22 June 2018

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Endogenous retroviruses and the human germline

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Retroelements in the human MHC class II region

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Fluorescence in situ hybridization: applications in cytogenetics and gene mapping

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

ERVK9, transposons and the evolution of MHC class I duplicons within the alpha-block of the human and chimpanzee.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3605882

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20979191

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33686

1 reference

22 June 2018

PMC publication ID

3605882

1 reference

22 June 2018

PubMed publication ID

20979191

1 reference

22 June 2018