(Q41937063)

14 October 2017

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish (English)

1 reference

14 October 2017

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Yuta Komoike

1

1 reference

14 October 2017

Keiko Shimojima

2

1 reference

14 October 2017

Jao-Shwann Liang

3

1 reference

14 October 2017

Hiroshi Fujii

4

1 reference

14 October 2017

Yoshihiro Maegaki

5

1 reference

14 October 2017

Makiko Osawa

6

1 reference

14 October 2017

Sakiko Fujii

7

1 reference

14 October 2017

Toru Higashinakagawa

8

1 reference

14 October 2017

Toshiyuki Yamamoto

9

1 reference

14 October 2017

29 January 2010

1 reference

Journal of Human Genetics

14 October 2017

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14 October 2017

55

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14 October 2017

3

1 reference

14 October 2017

155-162

1 reference

https://scigraph.springernature.com/pub.10.1038/jhg.2010.1

14 October 2017

0 references

cites work

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

Stages of embryonic development of the zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Novel microdeletion syndromes detected by chromosome microarrays

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

CNV and nervous system diseases--what's new?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Recurrent 16p11.2 microdeletions in autism

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Increased LIS1 expression affects human and mouse brain development

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Clinical features of microdeletion 9q22.3 (pat).

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Therapeutic efficacy and adverse effects of adrenocorticotropic hormone therapy in west syndrome: differences in dosage of adrenocorticotropic hormone, onset of age, and cause

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Iron deficiency anaemia and child development.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Increased numbers of coassembled PSD-95 to NMDA-receptor subunits NR2B and NR1 in human epileptic cortical dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Characterization of zebrafish PSD-95 gene family members.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Differential expression of two NMDA receptor interacting proteins, PSD-95 and SynGAP during mouse development.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Human postsynaptic density-95 (PSD95): location of the gene (DLG4) and possible function in nonneural as well as in neural tissues

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Synapse-specific regulation of AMPA receptor function by PSD-95.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

PSD-93 knock-out mice reveal that neuronal MAGUKs are not required for development or function of parallel fiber synapses in cerebellum.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Suppressors of hedgehog signaling: Linking aberrant development of neural progenitors and tumorigenesis.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

G-protein pathway suppressor 2 (GPS2) interacts with the regulatory factor X4 variant 3 (RFX4_v3) and functions as a transcriptional co-activator

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

GABARAP: lessons for synaptogenesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.1

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.1

1 reference

14 October 2017

1 reference