Eye anomalies and neurological manifestations in patients with PAX6 mutations (Q37412917)

20 August 2017

Eye anomalies and neurological manifestations in patients with PAX6 mutations (English)

1 reference

20 August 2017

Yin-Hsuan Chien

1

1 reference

20 August 2017

Hsiang-Po Huang

2

1 reference

20 August 2017

Wuh-Liang Hwu

3

1 reference

20 August 2017

Yin-Hsiu Chien

4

1 reference

20 August 2017

Tseng-Ching Chang

5

1 reference

20 August 2017

Ni-Chung Lee

6

1 reference

20 August 2017

22 October 2009

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20 August 2017

1 reference

20 August 2017

15

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20 August 2017

2139-2145

1 reference

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Neuronal migration disorders: clinical, neuroradiologic and genetics aspects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Aniridia: current pathology and management.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Embryogenetics: gene control of the embryogenesis of the eye.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Congenital malformations of the eye and orbit

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

PAX6 mutations: genotype-phenotype correlations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Polymicrogyria and absence of pineal gland due to PAX6 mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

PAX6 in sensory development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Mutations in the PAX6 gene in patients with hereditary aniridia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Pax6: more than meets the eye.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Aniridia and deafness: an inherited disorder.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

A deletion 3' to the PAX6 gene in familial aniridia cases.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Direct and concentration-dependent regulation of the proneural gene Neurogenin2 by Pax6.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Developmental eye disease--a genome era paradigm.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

Roles of Pax-genes in developing and adult brain as suggested by expression patterns.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2773736

A familial syndrome of aniridia and absence of the patella

2 October 2018

1 reference

12 December 2020

Letter: A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings

1 reference

12 December 2020

Bilateral aniridia with Marfan's syndrome and dental anomalies--a new association

1 reference

12 December 2020

Ten novel mutations found in Aniridia

1 reference

12 December 2020

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia

1 reference

12 December 2020

[PAX6 mutation caused brain abnormalities in humans]

1 reference

12 December 2020

Mutation analysis of PAX6 gene in a large Chinese family with aniridia

1 reference

12 December 2020

A novel PAX6 gene mutation in a Chinese family with aniridia

1 reference

12 December 2020

Novel mutations of the PAX6 gene identified in Chinese patients with aniridia

1 reference

12 December 2020

[Study of genetic mutation locus in a family with congenital aniridia]

1 reference

12 December 2020

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

1 reference

12 December 2020

Aniridia with preserved visual function: a report of four cases with no mutations in PAX6

1 reference

12 December 2020

1 reference

12 December 2020

[A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.].

1 reference

12 December 2020

Population-based risk estimates of Wilms tumor in sporadic aniridia

1 reference

12 December 2020

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects

1 reference

12 December 2020

Identifiers

1 reference

20 August 2017

1 reference