(Q52089571)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686357%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

title

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686357%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

0 references

1 reference

1

1 reference

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24 March 2020

5

Amihood Singer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686357%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

author name string

Nuphar Hacohen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686357%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Avraham Shaag

3

1 reference

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24 March 2020

Moshe Gomori

4

1 reference

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24 March 2020

Orly Elpeleg

6

1 reference

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24 March 2020

Vardiella Meiner

7

1 reference

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24 March 2020

language of work or name

English

0 references

publication date

7 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686357%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

24 March 2020

published in

1 reference

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24 March 2020

volume

173

1 reference

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24 March 2020

issue

9

1 reference

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24 March 2020

page(s)

2539-2544

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686357%20AND%20SRC:MED&resulttype=core&format=json

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

24 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

A developmental and genetic classification for malformations of cortical development: update 2012

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

RAIDD is a new 'death' adaptor molecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

The genetics of lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Somatic mutations in cerebral cortical malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Genomic variants and variations in malformations of cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Malformations of Cortical Development: From Postnatal to Fetal Imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Death Domain Assembly Mechanism Revealed by Crystal Structure of the Oligomeric PIDDosome Core Complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Genetic Basis of Brain Malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Genetic mapping and exome sequencing identify variants associated with five novel diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Neuronal caspase 2 activity and function requires RAIDD, but not PIDD

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Impaired antioxidant defence and accumulation of oxidative stress in caspase-2-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Caspase-2 deficiency enhances aging-related traits in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

Preimplantation genetic diagnosis of DiGeorge syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38347

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38347

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686357%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

1 reference