Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome (Q36001944)

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3 April 2020

title

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome (English)

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Veronica van Heyningen

52

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Isabel Hanson

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Louise Harewood

6

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Brunella Franco

13

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Colin E. Willoughby

17

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Jens M Hertz

42

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Karen Temple

48

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Katherine L Lachlan

49

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David R. FitzPatrick

53

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Ruth Newbury-Ecob

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36

Lily Islam

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Ken K Nischal

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author name string

Morad Ansari

1

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Jacqueline Rainger

2

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Kathleen A Williamson

4

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Freddie Sharkey

5

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Angela Sandilands

7

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Jill Clayton-Smith

8

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Helene Dollfus

9

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Francoise Meire

11

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Judy Fantes

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Birgit Lorenz

14

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David S Taylor

15

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Fiona Stewart

16

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Meriel McEntagart

18

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Peng Tee Khaw

19

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Carol Clericuzio

20

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Denise Williams

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Elias I Traboulsi

24

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Eduardo D Silva

25

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Mukhlis M Madlom

26

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David R Goudie

27

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Brian W Fleck

28

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Dagmar Wieczorek

29

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Juergen Kohlhase

30

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Alice D McTrusty

31

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Carol Gardiner

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Christopher Yale

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Anthony T Moore

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Isabelle Russell-Eggitt

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Melissa Lees

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Philip L Beales

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Stephen J Tuft

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Juan B Solano

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Trine E Prescott

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Deborah J Shears

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Martine Doco-Fenzy

46

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Fabienne Prieur

47

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Giuseppe Damante

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Danny A Morrison

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language of work or name

English

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publication date

28 April 2016

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volume

11

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page(s)

e0153757

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issue

4

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Creative Commons Attribution 4.0 International

3 April 2020

copyright license

start time

28 April 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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2 October 2017

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2 October 2017

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Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects

2 October 2017

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Gillespie syndrome: a report of two further cases

2 October 2017

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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Gillespie syndrome reported as bilateral congenital mydriasis

2 October 2017

1 reference

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

2 October 2017

1 reference

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Non-isotopical labeling of murine heterochromatin in situ by hybridization with in vitro-synthesized biotinylated gamma (major) satellite DNA.

2 October 2017

1 reference

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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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

[Gillespie syndrome: an uncommon presentation of congenital aniridia]

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Gillespie syndrome: two further cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Esophageal dysmotility in gillespie syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Changes in causes of low vision between 1988 and 2009 in a Dutch population of children

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Aniridia among children and teenagers in Sweden and Norway

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Gillespie syndrome: additional findings and parental consanguinity.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4849793

[Gillespie syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)]

23 September 2018

1 reference

12 December 2020

Absence ofSIX6Mutations in Microphthalmia, Anophthalmia, and Coloboma

1 reference

12 December 2020

Gillespie syndrome with impaired accommodation

1 reference

12 December 2020

Gillespie syndrome with impaired accommodation

1 reference

12 December 2020

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

1 reference

12 December 2020

Anirdia-like phenotype caused by 6p25 dosage aberrations

1 reference

12 December 2020

Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter

1 reference

12 December 2020

Case of Gillespie's syndrome

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0153757

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124303%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124303%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference