(Q53654237)

16 May 2018

https://api.crossref.org/works/10.1002/AJMG.A.20070

title

Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families (English)

1 reference

26 December 2023

1 reference

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20070

26 December 2023

author name string

Sérgio Rosemberg

5

1 reference

16 May 2018

Susana E. Kliemann

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707952

26 December 2023

Ricardo T. L. Waetge

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707952

26 December 2023

Oscar T. Suzuki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707952

26 December 2023

M. Rita Passos-Bueno

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707952

26 December 2023

language of work or name

English

0 references

publication date

1 May 2003

1 reference

16 May 2018

15 May 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12707952

full work available at URL

26 December 2023

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20070

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20070

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20070

26 December 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20070

American Journal of Medical Genetics

26 December 2023

published in

1 reference

16 May 2018

volume

119A

1 reference

16 May 2018

issue

1

1 reference

16 May 2018

page(s)

15-19

1 reference

16 May 2018

The NC1/endostatin domain of Caenorhabditis elegans type XVIII collagen affects cell migration and axon guidance.

cites work

https://api.crossref.org/works/10.1002/AJMG.A.20070

1

1 reference

Syndromes with cephaloceles

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

2

1 reference

Autosomal recessive vitreoretinopathy and encephaloceles

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

3

1 reference

The second report of Knobloch syndrome

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

4

1 reference

Oligomerization-dependent regulation of motility and morphogenesis by the collagen XVIII NC1/endostatin domain

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

6

1 reference

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

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

7

1 reference

Endostatin: an endogenous inhibitor of angiogenesis and tumor growth

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

8

1 reference

Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

9

1 reference

Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

10

1 reference

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

11

1 reference

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

12

1 reference

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies

26 December 2023

https://api.crossref.org/works/10.1002/AJMG.A.20070

14

1 reference

26 December 2023

Identifiers

DOI

10.1002/AJMG.A.20070

1 reference

16 May 2018

1 reference

16 May 2018