(Q55043116)

16 June 2018

title

[Gillespie syndrome: an uncommon presentation of congenital aniridia] (English)

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16 June 2018

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Defreyn A

1

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16 June 2018

Maugery J

series ordinal

2

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16 June 2018

Chabrier S

series ordinal

3

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16 June 2018

Coullet J

series ordinal

4

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16 June 2018

publication date

1 January 2007

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16 June 2018

Journal Francais d'Ophtalmologie

published in

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16 June 2018

volume

30

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16 June 2018

issue

1

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16 June 2018

page(s)

e1

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16 June 2018

ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.

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Adult Wilms' tumor: management considerations

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Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients

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[Bilateral congenital aniridia: 5 case reports]

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7 January 2021

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

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7 January 2021

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

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7 January 2021

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

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7 January 2021

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

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7 January 2021

PAX-6 in development and evolution

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7 January 2021

Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

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7 January 2021

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

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7 January 2021

A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells

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7 January 2021

Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13

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7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

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7 January 2021

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

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7 January 2021

The Syndrome of Congenital Cerebellar Ataxia, Aniridia and Mental Retardation

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7 January 2021

Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations

1 reference

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7 January 2021

Ataxia with aniridia of Gillespie: a case report

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Gillespie syndrome: a report of two further cases

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7 January 2021

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

1 reference

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7 January 2021

10.1016/S0181-5512(07)89554-4

Identifiers

DOI

1 reference

16 June 2018

PubMed ID

17287663

1 reference

16 June 2018