SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders (Q28266245)

acro-renal-ocular syndrome

inferred from title

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Jürgen Kohlhase

1

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David Chitayat

2

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Dieter Kotzot

3

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Serdar Ceylaner

4

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Ursula G Froster

5

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Sigrun Fuchs

6

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Tara Montgomery

7

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Bernd Rösler

Further delineation of the acro-renal-ocular syndrome

8

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language of work or name

English

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publication date

September 2005

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published in

Human Mutation

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volume

26

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issue

3

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page(s)

176-83

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Duane's retraction syndrome and associated congenital malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

The mutation spectrum in Holt-Oram syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

The DNA sequence and comparative analysis of human chromosome 20

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Cloning and expression of CSAL2, a new member of the spalt gene family in chick.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Simultaneous occurrence of the Holt-Oram and the Duane syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Xenopus Xsal-1, a vertebrate homolog of the region specific homeotic gene spalt of Drosophila

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

SALL3, a new member of the human spalt-like gene family, maps to 18q23.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

SALL1 mutations in Townes-Brocks syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Genomic cloning, chromosomal mapping, and expression analysis of msal-2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Okihiro syndrome is caused by SALL4 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

spalt encodes an evolutionarily conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Thalidomide may be a mutagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Holt-Oram syndrome: a clinical genetic study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Molecular cloning of a novel Xenopus spalt gene (Xsal-3).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

The mouse homolog of the region specific homeotic gene spalt of Drosophila is expressed in the developing nervous system and in mesoderm-derived structures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Disruption of a putative Cys-zinc interaction eliminates the biological activity of the Krüppel finger protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Chromosome 20 long arm deletion in an elderly malformed man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20215

7 January 2021

Identifiers

DOI

10.1002/HUMU.20215

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

16086360

1 reference

Consolidated OpenCitations Corpus – April 2017