(Q64446148)

English

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region

scientific article published on 01 December 2002

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scholarly article

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15 December 2019

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region (English)

1 reference

Europe PubMed Central

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15 December 2019

David R. FitzPatrick

5

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15 December 2019

author name string

Alison Male

1

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15 December 2019

Angela Davies

2

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15 December 2019

Anne Bergbaum

3

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15 December 2019

Jean Keeling

4

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15 December 2019

Caroline Mackie Ogilvie

6

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15 December 2019

Jonathan Berg

7

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15 December 2019

publication date

1 December 2002

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15 December 2019

European Journal of Human Genetics

1 reference

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15 December 2019

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15 December 2019

807-812

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15 December 2019

12

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15 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200890

0 references

Clinical anophthalmia: An epidemiological study in Northeast Italy based on 368,256 consecutive births

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

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National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

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The Lenz microphthalmia syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Waardenburg anophthalmia syndrome: report and review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

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A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

inferred from DOI database lookup

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

inferred from DOI database lookup

Trigonocephaly and the Opitz C syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Deletion 3q27----3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

inferred from DOI database lookup

Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

inferred from DOI database lookup

Physical mapping: integrating computational and molecular genetic data

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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cDNA cloning of a human dishevelled DVL-3 gene, mapping to 3q27, and expression in human breast and colon carcinomas

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Coding sequence and expression patterns of mouse chordin and mapping of the cognate mouse chrd and human CHRD genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Isolation and characterization of mouse dishevelled-3.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

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Planar polarity in the Drosophila eye: a multifaceted view of signaling specificity and cross-talk

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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Early eye development in vertebrates

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

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Regulation of eye development by frizzled signaling in Xenopus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200890

7 January 2021

based on heuristic

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The organizer factors Chordin and Noggin are required for mouse forebrain development

1 reference

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7 January 2021

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Identifiers

10.1038/SJ.EJHG.5200890

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12461687%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12461687%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

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