Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion (Q43174232)

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scientific article published on 4 February 2010

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English	Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion	scientific article published on 4 February 2010

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scholarly article

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

title

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion (English)

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

author name string

Naoya Morisada

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1

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Europe PubMed Central

PubMed publication ID

20130917

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Nanna Dahl Rendtorff

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2

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

Kandai Nozu

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3

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

Takahiro Morishita

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4

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

Takayuki Miyakawa

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5

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

Tohru Matsumoto

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6

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

Satoshi Hisano

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7

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PubMed publication ID

20130917

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Kazumoto Iijima

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8

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PubMed publication ID

20130917

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Lisbeth Tranebjaerg

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9

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

Akira Shirahata

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10

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PubMed publication ID

20130917

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Masafumi Matsuo

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11

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

Koichi Kusuhara

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12

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

publication date

4 February 2010

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

published in

Pediatric Nephrology

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

volume

25

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Europe PubMed Central

PubMed publication ID

20130917

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15 November 2017

issue

7

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Europe PubMed Central

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20130917

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15 November 2017

page(s)

1343-1348

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20130917

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15 November 2017

cites work

Phenotypic manifestations of branchio-oto-renal syndrome.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

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inferred from PubMed ID database lookup

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant branchiootorenal dysplasia

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

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inferred from PubMed ID database lookup

A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mobile elements: drivers of genome evolution

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LINE-1 retrotransposons: modulators of quantity and quality of mammalian gene expression?

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20130917

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12 December 2020

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Identifiers

DOI

10.1007/S00467-010-1445-X

1 reference

stated in

Europe PubMed Central

PubMed publication ID

20130917

retrieved

15 November 2017

Dimensions Publication ID

1000466134

0 references

PubMed publication ID

20130917

1 reference

stated in

Europe PubMed Central

PubMed publication ID

20130917

retrieved

15 November 2017

ResearchGate publication ID

41405800

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