(Q45072730)

9 December 2017

title

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model (English)

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9 December 2017

Boris Utsch

13

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Stefan Mundlos

12

object named as

Stefan Mundlos

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9 December 2017

Jeffrey W Innis

1

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9 December 2017

Douglas Mortlock

2

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9 December 2017

Zhi Chen

3

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9 December 2017

Michael Ludwig

4

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9 December 2017

Melissa E Williams

5

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9 December 2017

Thomas M Williams

6

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9 December 2017

Colleen D Doyle

7

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9 December 2017

Zhihong Shao

8

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9 December 2017

Michael Glynn

9

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9 December 2017

Davor Mikulic

10

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9 December 2017

Katarina Lehmann

11

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9 December 2017

publication date

22 September 2004

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9 December 2017

published in

Human Molecular Genetics

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9 December 2017

volume

13

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9 December 2017

issue

22

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9 December 2017

page(s)

2841-2851

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A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

9 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Replication slippage between distant short repeats in Saccharomyces cerevisiae depends on the direction of replication and the RAD50 and RAD52 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Mutator specificity and disease: looking over the FENce

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

Efficiency of recombination by Cre transient expression in embryonic stem cells: comparison of various promoters

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH306

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH306

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9 December 2017

1 reference