(Q50858165)

English

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

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scholarly article

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. (English)

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

0 references

Yoshinori Tsurusaki

1

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

Hirotomo Saitsu

7

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

author name string

R Yonezawa

2

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

M Furuya

3

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

G Nishimura

4

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

R K Pooh

5

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

M Nakashima

6

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

N Miyake

8

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

S Saito

9

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

N Matsumoto

10

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

publication date

5 July 2013

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

Clinical Genetics

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

85

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

6

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

592-594

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12215

21 January 2018

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12215

21 January 2018

Recurrent short rib polydactyly syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12215

21 January 2018

Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12215

21 January 2018

Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12215

21 January 2018

Identifiers

10.1111/CGE.12215

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

1 reference

Europe PubMed Central

24 March 2018

http://europepmc.org/abstract/MED/23826986

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