(Q52760093)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28777490%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology (English)

1 reference

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26 March 2020

6

1 reference

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26 March 2020

Shinji Saitoh

8

1 reference

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26 March 2020

Nobuhiko Okamoto

1

1 reference

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26 March 2020

Mitsuhiro Kato

7

1 reference

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26 March 2020

author name string

Yuki Tsuchiya

2

1 reference

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26 March 2020

Fuyuki Miya

3

1 reference

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26 March 2020

Tatsuhiko Tsunoda

4

1 reference

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26 March 2020

Kumiko Yamashita

5

1 reference

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26 March 2020

Mami Yamasaki

9

1 reference

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26 March 2020

Yonehiro Kanemura

10

1 reference

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26 March 2020

Kenjiro Kosaki

11

1 reference

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26 March 2020

Daiju Kitagawa

12

1 reference

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26 March 2020

language of work or name

English

0 references

publication date

4 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28777490%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

26 March 2020

published in

1 reference

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26 March 2020

volume

173

1 reference

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26 March 2020

issue

10

1 reference

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26 March 2020

page(s)

2690-2696

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28777490%20AND%20SRC:MED&resulttype=core&format=json

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

26 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

STIL microcephaly mutations interfere with APC/C-mediated degradation and cause centriole amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Deconstructing the centriole: structure and number control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Molecular genetics of human primary microcephaly: an overview.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Mitotic spindle multipolarity without centrosome amplification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Identification and classification of 16 new kinesin superfamily (KIF) proteins in mouse genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Centrioles, centrosomes, and cilia in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

KIF1A mutation in a patient with progressive neurodegeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

A unique insertion in STARD9's motor domain regulates its stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

STARD9/Kif16a is a novel mitotic kinesin and antimitotic target

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

The STARD9/Kif16a kinesin associates with mitotic microtubules and regulates spindle pole assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38391

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28777490%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference