(Q37162571)

18 August 2017

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome (English)

1 reference

18 August 2017

0 references

8

Fowzan S Alkuraya

1 reference

18 August 2017

4

Ranad Shaheen

1 reference

18 August 2017

2

Anna Rajab

1 reference

18 August 2017

Hanan E Shamseldin

1

1 reference

18 August 2017

Amal Alhashem

3

1 reference

18 August 2017

Tarfa Al-Shidi

5

1 reference

18 August 2017

Rana Alamro

6

1 reference

18 August 2017

Salma Al Harassi

7

1 reference

18 August 2017

language of work or name

English

0 references

publication date

22 August 2013

1 reference

American Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

93

1 reference

18 August 2017

3

1 reference

18 August 2017

555-560

1 reference

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

TCTN3 mutations cause Mohr-Majewski syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

The graded response to Sonic Hedgehog depends on cilia architecture

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Dead-box proteins: a family affair--active and passive players in RNP-remodeling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Remodeling of ribonucleoprotein complexes with DExH/D RNA helicases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

The human DDX and DHX gene families of putative RNA helicases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

A novel mitochondrial DEAD box protein (Mrh4) required for maintenance of mtDNA in Saccharomyces cerevisiae

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Identification of the gene for oral-facial-digital type I syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

The orofaciodigital (OFD) syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Mitochondrial splicing requires a protein from a novel helicase family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

A suppressor of yeastspp81/ded1mutations encodes a very similar putative ATP-dependent RNA helicase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Duplex unwinding and RNP remodeling with RNA helicases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

Oral–facial–digital syndromes: Review and diagnostic guidelines

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769930

[Abnormalities of the buccal frena]

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23972372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.07.012

1 reference

18 August 2017

1 reference

18 August 2017

1 reference