(Q48385418)

English

Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree

scientific article published on 28 September 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

author name string

X Xu

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

L Zhang

2

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

P Tong

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

G Xun

4

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

W Su

5

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

Z Xiong

6

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

T Zhu

7

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

Y Zheng

8

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

S Luo

9

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

Y Pan

10

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

K Xia

11

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

Z Hu

12

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

publication date

28 September 2012

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

83

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

6

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

560-564

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Genetics of Early Onset Cognitive Impairment

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Revisiting Mendelian disorders through exome sequencing

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Exome sequencing and the genetics of intellectual disability.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

A UPF3-mediated regulatory switch that maintains RNA surveillance

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

A nonconservative amino acid change in the UPF3B gene in a patient with schizophrenia

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12014

21 January 2018

Identifiers

10.1111/CGE.12014

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/22957832

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