(Q39081888)

English

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India

scientific article published on 21 October 2013

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scholarly article

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Europe PubMed Central

8 September 2017

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India (English)

1 reference

Europe PubMed Central

8 September 2017

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X-linked intellectual disability

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disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Antony Michealraj

2

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115387%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Madhulika Kabra

3

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1 June 2020

6

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1 June 2020

author name string

Thenral S Geetha

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115387%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Gurjit Kaur

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115387%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Ramesh C Juyal

5

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1 June 2020

publication date

21 October 2013

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Europe PubMed Central

8 September 2017

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1 June 2020

35

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1 June 2020

1

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1 June 2020

41-44

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115387%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

LOVD v.2.0: the next generation in gene variant databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

The E3 ubiquitin ligase- and protein phosphatase 2A (PP2A)-binding domains of the Alpha4 protein are both required for Alpha4 to inhibit PP2A degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Functional interactions between ubiquitin E2 enzymes and TRIM proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Emerging major synaptic signaling pathways involved in intellectual disability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

The tripartite motif family identifies cell compartments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Genetics of early onset cognitive impairment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

MID1 and MID2 are required for Xenopus neural tube closure through the regulation of microtubule organization.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22453

21 January 2018

Identifiers

10.1002/HUMU.22453

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115387%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24115387%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

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