(Q50615596)

16 March 2018

title

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. (English)

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16 March 2018

Olivier Alibeu

4

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Celine Huber

Céline Huber

3

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Didier Lacombe

Didier Lacombe

7

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Valérie Cormier-Daire

Valérie Cormier-Daire

13

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Arnold Munnich

12

Arnold Munnich

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16 March 2018

5

Niklas Feldhahn

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16 March 2018

author name string

Séverine Bacrot

1

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16 March 2018

Mathilde Doyard

2

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16 March 2018

Daphné Lehalle

6

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16 March 2018

Sandrine Marlin

8

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16 March 2018

Patrick Nitschke

9

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16 March 2018

Florence Petit

10

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16 March 2018

Marie-Paule Vazquez

11

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16 March 2018

publication date

11 December 2014

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16 March 2018

published in

Human Mutation

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16 March 2018

volume

36

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16 March 2018

issue

2

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16 March 2018

page(s)

187-190

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16 March 2018

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

The hSSB1 orthologue Obfc2b is essential for skeletogenesis but dispensable for the DNA damage response in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Single strand DNA binding proteins 1 and 2 protect newly replicated telomeres

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Regulation of alternative splicing by the core spliceosomal machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Pre-mRNA splicing in disease and therapeutics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: A new pattern of defective development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

The spliceosome: design principles of a dynamic RNP machine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Splicing in disease: disruption of the splicing code and the decoding machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22729

21 January 2018

Identifiers

DOI

10.1002/HUMU.22729

1 reference

16 March 2018

1 reference

16 March 2018