(Q38312712)

2 September 2017

Mutations in PAX3 associated with Waardenburg syndrome type I. (English)

1 reference

2 September 2017

A Milunsky

6

0 references

author name string

C T Baldwin

1

1 reference

2 September 2017

N R Lipsky

2

1 reference

2 September 2017

C F Hoth

3

1 reference

2 September 2017

T Cohen

4

1 reference

2 September 2017

W Mamuya

5

1 reference

2 September 2017

1 January 1994

1 reference

2 September 2017

1 reference

2 September 2017

3

1 reference

2 September 2017

3

1 reference

2 September 2017

205-211

1 reference

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

2 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

The molecular basis of the undulated/Pax-1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Mouse small eye results from mutations in a paired-like homeobox-containing gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Pax: a murine multigene family of paired box-containing genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

In Situ Hybridization applied to Waardenburg Syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030306

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030306

1 reference

2 September 2017

1 reference