(Q34178019)

31 July 2017

title

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia (English)

1 reference

31 July 2017

B Deml

1

1 reference

31 July 2017

L M Reis

2

1 reference

31 July 2017

M Maheshwari

3

1 reference

31 July 2017

C Griffis

4

1 reference

31 July 2017

D Bick

5

1 reference

31 July 2017

E V Semina

6

1 reference

31 July 2017

publication date

12 April 2014

1 reference

31 July 2017

1 reference

31 July 2017

volume

86

1 reference

31 July 2017

issue

5

1 reference

31 July 2017

page(s)

475-481

1 reference

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

31 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=4163542

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Homozygous null mutation in ODZ3 causes microphthalmia in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Exome sequencing can improve diagnosis and alter patient management

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Childhood presentation of COL4A1 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

The genetics of anophthalmia and microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

FOXE3 plays a significant role in autosomal recessive microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Anophthalmia and microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Mutations in SOX2 cause anophthalmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

5 July 2018

1 reference

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

21 January 2018

1 reference

Ophthalmological features associated with COL4A1 mutations

21 January 2018

1 reference

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

21 January 2018

1 reference

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage

21 January 2018

1 reference

Clinical and brain MRI follow-up study of a family with COL4A1 mutation

21 January 2018

1 reference

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

21 January 2018

1 reference

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

21 January 2018

1 reference

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

21 January 2018

1 reference

Distribution of α(IV) collagen chains in the ocular anterior segments of adult mice

21 January 2018

1 reference

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163542

Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage

28 October 2018

1 reference

12 December 2020

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

1 reference

12 December 2020

Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis

1 reference

12 December 2020

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

1 reference

12 December 2020

Acute urinary retention due to a novel collagen COL4A1 mutation

1 reference

12 December 2020

Identifiers

DOI

10.1111/CGE.12379

1 reference

31 July 2017

1 reference

31 July 2017

1 reference