(Q36001944)

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

3 April 2020

title

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

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

1 reference

Veronica van Heyningen

52

1 reference

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3 April 2020

Isabel Hanson

3

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

Louise Harewood

6

1 reference

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3 April 2020

Brunella Franco

13

1 reference

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3 April 2020

Colin E. Willoughby

17

1 reference

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3 April 2020

Jens M Hertz

42

1 reference

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3 April 2020

Karen Temple

48

1 reference

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3 April 2020

Katherine L Lachlan

49

1 reference

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3 April 2020

David R. FitzPatrick

53

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

23

Ruth Newbury-Ecob

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

36

Lily Islam

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

45

Ken K Nischal

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

author name string

Morad Ansari

1

1 reference

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3 April 2020

Jacqueline Rainger

2

1 reference

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3 April 2020

Kathleen A Williamson

4

1 reference

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3 April 2020

Freddie Sharkey

5

1 reference

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3 April 2020

Angela Sandilands

7

1 reference

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3 April 2020

Jill Clayton-Smith

8

1 reference

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3 April 2020

Helene Dollfus

9

1 reference

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3 April 2020

Francoise Meire

11

1 reference

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3 April 2020

Judy Fantes

12

1 reference

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3 April 2020

Birgit Lorenz

14

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

David S Taylor

15

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

Fiona Stewart

16

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

Meriel McEntagart

18

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

Peng Tee Khaw

19

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

Carol Clericuzio

20

1 reference

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3 April 2020

Denise Williams

22

1 reference

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3 April 2020

Elias I Traboulsi

24

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

Eduardo D Silva

25

1 reference

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3 April 2020

Mukhlis M Madlom

26

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

David R Goudie

27

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

Brian W Fleck

28

1 reference

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3 April 2020

Dagmar Wieczorek

29

1 reference

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3 April 2020

Juergen Kohlhase

30

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

Alice D McTrusty

31

1 reference

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3 April 2020

Carol Gardiner

32

1 reference

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3 April 2020

Christopher Yale

33

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

Anthony T Moore

34

1 reference

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3 April 2020

Isabelle Russell-Eggitt

35

1 reference

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3 April 2020

Melissa Lees

37

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

Philip L Beales

38

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

Stephen J Tuft

39

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

Juan B Solano

40

1 reference

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3 April 2020

Miranda Splitt

41

1 reference

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3 April 2020

Trine E Prescott

43

1 reference

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3 April 2020

Deborah J Shears

44

1 reference

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3 April 2020

Martine Doco-Fenzy

46

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

Fabienne Prieur

47

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

Giuseppe Damante

50

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

Danny A Morrison

51

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

Pierre Bitoun

10

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

Lionel Van Maldergem

21

1 reference

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3 April 2020

language of work or name

English

0 references

publication date

28 April 2016

1 reference

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3 April 2020

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

volume

11

1 reference

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3 April 2020

issue

4

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

page(s)

e0153757

1 reference

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Creative Commons Attribution 4.0 International

3 April 2020

copyright license

start time

28 April 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

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Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia

2 October 2017

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A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

2 October 2017

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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

2 October 2017

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Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

2 October 2017

1 reference

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Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences

2 October 2017

1 reference

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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

2 October 2017

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2 October 2017

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Axenfeld-Rieger syndrome: new perspectives.

2 October 2017

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Genetics of anterior segment dysgenesis disorders

2 October 2017

1 reference

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Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.

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

Genetic and genomic analysis of classic aniridia in Saudi Arabia.

2 October 2017

1 reference

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A complex regulatory network of transcription factors critical for ocular development and disease.

2 October 2017

1 reference

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Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2

2 October 2017

1 reference

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Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity.

2 October 2017

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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

2 October 2017

1 reference

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The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex

2 October 2017

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Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia

2 October 2017

1 reference

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Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome

2 October 2017

1 reference

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FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

2 October 2017

1 reference

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Pax6 3' deletion results in aniridia, autism and mental retardation

2 October 2017

1 reference

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Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

2 October 2017

1 reference

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

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

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

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: 2 familial cases

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

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

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

A component of BRAF-HDAC complex, BHC80, is required for neonatal survival in mice

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

WAGR syndrome: a clinical review of 54 cases

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

Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1

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, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.

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

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

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

Present limitations of molecular biological diagnostics in Gillespie syndrome

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

3' deletions cause aniridia by preventing PAX6 gene expression

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

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA

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

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

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

1 reference

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

Gillespie syndrome: a report of two further cases

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

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

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

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

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

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

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

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