(Q73851685)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343302%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8) (English)

1 reference

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7 November 2019

author name string

A C Baruch

series ordinal

1

1 reference

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7 November 2019

R P Erickson

series ordinal

2

1 reference

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7 November 2019

publication date

1 May 2001

1 reference

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American Journal of Medical Genetics Part A

7 November 2019

published in

1 reference

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7 November 2019

volume

100

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7 November 2019

issue

3

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7 November 2019

page(s)

187-190

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Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome

7 November 2019

cites work

1 reference

A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.

21 January 2018

1 reference

Delineation of two distinct 6p deletion syndromes

21 January 2018

1 reference

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

21 January 2018

1 reference

Two rare cases of 6p partial deletion.

21 January 2018

1 reference

Terminal deletion 6p23: a case report

21 January 2018

1 reference

Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports

21 January 2018

1 reference

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

21 January 2018

1 reference

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

1 reference

Partial deletion of chromosome 6p: delineation of the syndrome

21 January 2018

1 reference

Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

21 January 2018

1 reference

Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

21 January 2018

1 reference

Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8.

21 January 2018

1 reference

AP-2alpha transcription factor is required for early morphogenesis of the lens vesicle

21 January 2018

1 reference

Distal deletion of the short arm of chromosome 6

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1256

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343302%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference