(Q34587624)

3 August 2017

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation (English)

1 reference

3 August 2017

Benjamin H Ticho

1

1 reference

3 August 2017

Clair Hilchie-Schmidt

2

1 reference

3 August 2017

Robert T Egel

3

1 reference

3 August 2017

Elias I Traboulsi

4

1 reference

3 August 2017

Rachel J Howarth

5

1 reference

3 August 2017

David Robinson

6

1 reference

3 August 2017

1 December 2006

1 reference

3 August 2017

1 reference

3 August 2017

27

1 reference

3 August 2017

4

1 reference

3 August 2017

145-149

1 reference

ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.

3 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Axenfeld-Rieger syndrome in the age of molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Gillespie syndrome: a report of two further cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600976897

10.1080/13816810600976897

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

1 reference