Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. (Q51752663)

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scientific article published on 22 May 2007

Language	Label	Description	Also known as
English	Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.	scientific article published on 22 May 2007

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17516023 AND SRC:MED&resulttype=core&format=json

30 December 2019

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17516023 AND SRC:MED&resulttype=core&format=json

30 December 2019

congenital nystagmus

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based on heuristic

inferred from title

Ming-Chang Zhang

8

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30 December 2019

author name string

Jing Yu Liu

1

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30 December 2019

Xiang Ren

2

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30 December 2019

Xiufeng Yang

3

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30 December 2019

Tangying Guo

4

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30 December 2019

Qi Yao

5

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30 December 2019

Lin Li

6

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30 December 2019

Xiaohua Dai

7

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30 December 2019

Lejin Wang

9

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30 December 2019

Mugen Liu

10

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30 December 2019

Qing K Wang

11

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30 December 2019

publication date

22 May 2007

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30 December 2019

Journal of Human Genetics

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30 December 2019

52

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30 December 2019

6

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30 December 2019

565-570

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30 December 2019

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary congenital nystagmus. An intrafamilial study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital nystagmus cosegregating with a balanced 7;15 translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural Study of Extraocular Muscle in Congenital Nystagmus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital motor nystagmus linked to Xq26-q27.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage analysis of two families with X-linked recessive congenital motor nystagmus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Eight previously unidentified mutations found in the OA1 ocular albinism gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion in the OA1 gene in a family with congenital X linked nystagmus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anatomical differences in optic nerve, chiasma and tractus opticus in human albinism as demonstrated by standardised clinical and MRI evaluation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of the OA1 gene in ocular albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal retinotopic representations in human visual cortex revealed by fMRI.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17516023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0152-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17516023 AND SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17516023 AND SRC:MED&resulttype=core&format=json

30 December 2019

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