(Q52117160)

22 April 2018

title

Exclusion of PITX2 mutations as a major cause of CHARGE association. (English)

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22 April 2018

author

Donna M. Martin

1

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22 April 2018

John W. Belmont

7

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22 April 2018

Sally A. Camper

8

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22 April 2018

Lisa A Schimmenti

object named as

Lisa A Schimmenti

4

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Elena V Semina

5

object named as

Elena V Semina

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22 April 2018

Frank J Probst

2

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22 April 2018

Sharon E Fox

3

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22 April 2018

Margaret A Hefner

6

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22 April 2018

publication date

1 July 2002

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22 April 2018

American Journal of Medical Genetics Part A

published in

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22 April 2018

volume

111

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22 April 2018

page(s)

27-30

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22 April 2018

issue

1

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22 April 2018

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Rieger syndrome: a clinical, molecular, and biochemical analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

CHARGE association: an update and review for the primary pediatrician

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Neurocristopathy: its growth and development in 20 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Choanal atresia and associated multiple anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Identification of a dominant negative homeodomain mutation in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

CHARGE syndrome: report of 47 cases and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10473

21 January 2018

Identifiers

DOI

10.1002/AJMG.10473

1 reference

22 April 2018

PubMed ID

12124729

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22 April 2018