(Q33648152)

28 July 2017

title

The eye in the CHARGE association (English)

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28 July 2017

Russell-Eggitt IM

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28 July 2017

Blake KD

series ordinal

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28 July 2017

Taylor DS

series ordinal

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28 July 2017

Wyse RK

series ordinal

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28 July 2017

language of work or name

English

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publication date

1 July 1990

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British Journal of Ophthalmology

28 July 2017

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inferred from page(s)

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

421-426

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Syndromes associated with congenital facial paralysis

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

The CHARGE association. How well can they do?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Familial CHARGE syndrome: clinical report with autopsy findings

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Choanal atresia and associated anomalies: the CHARGE association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

A reappraisal of the CHARGE association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Renal and urinary tract abnormalities associated with chromosome aberrations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Goldenhar complex in discordant monozygotic twins: a case report and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Ocular findings in CHARGE syndrome. Six case reports and a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

The pattern of cardiovascular malformation in the CHARGE association.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

The spectrum of clinical features in CHARGE syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Choanal atresia and associated multiple anomalies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Colobomatous Microphthalmia, Heart Disease, Hearing Loss, and Mental Retardation-A Syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Hypopituitarism and the CHARGE association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Infantile spasms and the CHARGE association.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Congenital anomalies in patients with choanal atresia: CHARGE-association.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1042153

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

30 October 2018

1 reference

12 December 2020

Choanal atresia and its associated anomalies. Further support for the CHARGE Association

1 reference

12 December 2020

Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association

1 reference

12 December 2020

The CHARGE association in a male newborn infant. Diagnostic and therapeutic considerations

1 reference

12 December 2020

Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome)

1 reference

12 December 2020

Delayed visual maturation

1 reference

12 December 2020

Thymic hormone dependent immunodeficiency in an infant with partial trisomy of chromosome 22

1 reference

12 December 2020

Spectrum of congenital heart disease in CHARGE association

1 reference

12 December 2020

CHARGE association in neonates presenting with choanal atresia

1 reference

12 December 2020

Bilateral posterior choanal atresia: a morphologic and histologic study, and computed tomographic correlation

1 reference

12 December 2020

Choanal atresia and associated anomalies

1 reference

12 December 2020

Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.74.7.421

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28 July 2017

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28 July 2017

1 reference