A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (Q24315833)

embryonic cranial skeleton morphogenesis

GOA release 2020-03-11

1 reference

Richieri Costa-Pereira syndrome

GOA release 2020-03-11

1 reference

8

Stephen R F Twigg

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Simon J McGowan

Simon J McGowan

14

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Gregers R. Andersen

Gregers R Andersen

Andrew Oliver Mungo Wilkie

13

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Andrew O M Wilkie

15

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Maria Rita Passos-Bueno

18

Maria Rita Passos-Bueno

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Antonio Richieri-Costa

16

Antonio Richieri-Costa

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Roseli Maria Zechi-Ceide

3

Roseli M Zechi-Ceide

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author name string

Francine P Favaro

1

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Lucas Alvizi

2

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Debora Bertola

4

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Temis M Felix

5

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Josiane de Souza

6

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Salmo Raskin

7

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Andrea M J Weiner

9

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Pablo Armas

10

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Ezequiel Margarit

11

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Nora B Calcaterra

12

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Maria L G de Almeida

American Journal of Human Genetics

17

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language of work or name

English

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publication date

2 January 2014

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published in

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volume

94

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page(s)

120-8

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issue

1

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27 September 2017

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Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome

27 September 2017

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27 September 2017

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RNA gain-of-function in spinocerebellar ataxia type 8.

27 September 2017

1 reference

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Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

27 September 2017

1 reference

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

CWC22 connects pre-mRNA splicing and exon junction complex assembly.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Regulation of vertebrate embryogenesis by the exon junction complex core component Eif4a3.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Richieri-costa and Pereira syndrome: severe phenotype.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

On the reversibility of mandibular symphyseal fusion.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882729

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24360810

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24360810

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.11.020

1 reference

3554504

3554504

1 reference

1 reference

1 reference