Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma (Q34540729)

2 August 2017

title

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma (English)

1 reference

2 August 2017

Craig A Jackson

2

0 references

Lisa A Schimmenti

object named as

Lisa A Schimmenti

8

0 references

author name string

Gordana Raca

1

1 reference

2 August 2017

Laimutis Kucinskas

3

1 reference

2 August 2017

Berta Warman

4

1 reference

2 August 2017

Joseph T C Shieh

5

1 reference

2 August 2017

Adele Schneider

6

1 reference

2 August 2017

Tanya M Bardakjian

7

1 reference

2 August 2017

language of work or name

English

0 references

publication date

1 May 2011

1 reference

2 August 2017

1 reference

2 August 2017

volume

13

1 reference

2 August 2017

issue

5

1 reference

2 August 2017

page(s)

437-442

1 reference

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318204cfd2

2 August 2017

exact match

0 references

cites work

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

TFAP2A mutations result in branchio-oculo-facial syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

CHARGE syndrome: an update

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

GDF6, a novel locus for a spectrum of ocular developmental anomalies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Uveal coloboma: clinical and basic science update

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Identification of disease genes by whole genome CGH arrays

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Developmental eye disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Ocular coloboma: a reassessment in the age of molecular neuroscience

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Glypicans: proteoglycans with a surprise

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

Congenital eye malformations in 212,479 consecutive births.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

The descriptive epidemiology of anophthalmia and microphthalmia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237064

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.

7 July 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204CFD2

Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204CFD2

Variable expression of ophthalmological findings in the 13q deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204CFD2

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204CFD2

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21285886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletions that reveal recessive genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21285886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21285886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/GIM.0B013E318204CFD2

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference