(Q24803518)

6

0 references

author name string

Douglas B Gould

1

0 references

Mohamad S Jaafar

2

0 references

Francis Munier

4

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Robert Ritch

5

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Michael A Walter

https://scigraph.springernature.com/pub.10.1186/1471-2350-5-17

7

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language of work or name

English

0 references

publication date

25 June 2004

6 references

25 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

3 December 2020

6 references

25 April 2019

20 June 2019

30 June 2019

14 September 2019

12 October 2019

3 December 2020

5

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issue

1

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page(s)

17

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exact match

0 references

cites work

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

A second locus for Rieger syndrome maps to chromosome 13q14

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

A simple salting out procedure for extracting DNA from human nucleated cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Mice lacking Bmp6 function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Differential structuring of human populations for homologous X and Y microsatellite loci

7 April 2017

1 reference

https://api.crossref.org/works/10.1186/1471-2350-5-17

Bone morphogenetic proteins: multifunctional regulators of vertebrate development

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Partial deletion of chromosome 6p: autopsy findings in a premature infant and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Terminal deletion of 6p: report of a new case.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Clinical manifestations of trisomy 4p syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

A patient with an interstitial deletion of the short arm of chromosome 6

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Partial deletion of chromosome 6p: delineation of the syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Sclerocornea and interstitial deletion of the short arm of chromosome 6--(46XY del[6] [p22 p24])

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Delineation of two distinct 6p deletion syndromes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Two rare cases of 6p partial deletion.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-17

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-17

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-17

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=455682

Clinical evidence for localisation of HLA proximal of chromosome 6p22

28 November 2018

1 reference

12 December 2020

Tandem Y/6 translocation with partial deletion 6 (p23----pter)

1 reference

12 December 2020

Distal deletion of the short arm of chromosome 6

1 reference

12 December 2020

Terminal deletion 6p23: a case report

1 reference

12 December 2020

1 reference

12 December 2020

6p23 deletion mosaicism in a woman with recurrent abortions and idiopathic hypoprolactinemia

1 reference

12 December 2020

Multiple congenital anomalies in a man with (X;6) translocation

1 reference

12 December 2020

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region

1 reference

12 December 2020

Ocular abnormalities in a patient with partial deletion of chromosome 6p. A case report

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-5-17

1 reference

Dimensions Publication ID

2166585

1044907402

0 references

2166585

1 reference

1 reference

1 reference