(Q24632196)

1

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Koki Yamada

2

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Cynthia St Hilaire

3

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Wai-Man Chan

4

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Caroline Andrews

5

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Nathalie McIntosh

6

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Motoi Nakano

7

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E Jean Martonyi

8

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William R Raymond

9

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Sada Okumura

10

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Michael M Okihiro

11

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Elizabeth C Engle

American Journal of Human Genetics

12

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language of work or name

English

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publication date

November 2002

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published in

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volume

71

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issue

5

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page(s)

1195-9

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Murine Sall1 represses transcription by recruiting a histone deacetylase complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Characteristics of Okihiro syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Localization of a gene for Duane retraction syndrome to chromosome 2q31

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Bilateral Duane's retraction syndrome. A clinical-pathologic case report

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

The genetics of hand malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Clinical diversity of hereditary Duane's retraction syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

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.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Unilateral Duane's retraction syndrome (Type 1).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385096

Duane syndrome and congenital upper-limb anomalies. A familial occurrence

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12395297

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/343821

1 reference

1 reference

1 reference

PubMed publication ID

12395297

1 reference