(Q84819465)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

neonatal diabetes mellitus

11 February 2020

main subject

1 reference

1 reference

Benjamin D Solomon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Daniel E Pineda-Alvarez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Joan Z Balog

3

1 reference

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11 February 2020

Donald Hadley

4

1 reference

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11 February 2020

Andrea L Gropman

5

1 reference

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11 February 2020

Radha Nandagopal

6

1 reference

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11 February 2020

Joan C Han

7

1 reference

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11 February 2020

Jin S Hahn

8

1 reference

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11 February 2020

Delphine Blain

9

1 reference

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11 February 2020

Brian Brooks

10

1 reference

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11 February 2020

Maximilian Muenke

11

1 reference

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11 February 2020

publication date

1 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

11 February 2020

published in

1 reference

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11 February 2020

volume

149A

1 reference

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11 February 2020

issue

11

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11 February 2020

page(s)

2543-2546

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development

11 February 2020

cites work

1 reference

12 December 2020

Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).

1 reference

12 December 2020

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

1 reference

12 December 2020

Pax6; a pleiotropic player in development.

1 reference

12 December 2020

The human PAX6 gene is mutated in two patients with aniridia

1 reference

12 December 2020

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

1 reference

12 December 2020

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

1 reference

12 December 2020

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

12 December 2020

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

1 reference

12 December 2020

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

1 reference

12 December 2020

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

1 reference

12 December 2020

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

12 December 2020

Pax6 is implicated in murine pituitary endocrine function

1 reference

12 December 2020

PAX6 mutations: genotype-phenotype correlations

1 reference

12 December 2020

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

1 reference

12 December 2020

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

1 reference

12 December 2020

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

1 reference

12 December 2020

Expression pattern of PAX3 and PAX6 genes during human embryogenesis.

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33081

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19876904%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

19876904

1 reference