(Q35671540)

9 August 2017

0 references

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly (English)

1 reference

9 August 2017

Hiroshi Arai

3

0 references

Yoshinori Tsurusaki

object named as

Yoshinori Tsurusaki

5

0 references

Hirotomo Saitsu

object named as

Hirotomo Saitsu

12

0 references

Mitsuhiro Kato

object named as

Mitsuhiro Kato

10

0 references

author name string

Yuriko Yoneda

1

1 reference

9 August 2017

Kazuhiro Haginoya

2

1 reference

9 August 2017

Shigeo Yamaoka

4

1 reference

9 August 2017

Hiroshi Doi

6

1 reference

9 August 2017

Noriko Miyake

7

1 reference

9 August 2017

Kenji Yokochi

8

1 reference

9 August 2017

Hitoshi Osaka

9

1 reference

9 August 2017

Naomichi Matsumoto

11

1 reference

9 August 2017

language of work or name

English

0 references

publication date

29 December 2011

1 reference

American Journal of Human Genetics

9 August 2017

published in

1 reference

9 August 2017

volume

90

1 reference

9 August 2017

issue

1

1 reference

9 August 2017

page(s)

86-90

1 reference

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

12 July 2018

Mammalian collagen IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificati

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection--an illustrative report

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Neuroimaging fails to identify asymptomatic carriers of familial porencephaly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

Hereditary porencephaly: clinical and MRI findings in two Dutch families.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257897

25 September 2018

Familial porencephaly

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22209246

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22209246

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.11.016

1 reference

9 August 2017

1 reference

9 August 2017

1 reference