Expanding the genotypic spectrum of Perrault syndrome. (Q50316898)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Expanding the genotypic spectrum of Perrault syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Leigh Demain

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Simon G Williams

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Simon Pearce

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Sabrina Mackinnon

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

J E Urquhart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

J O'Sullivan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

S S Bhaskar

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

E M Jenkinson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

C M Lourenco

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

A Heiberg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

S A Shalev

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

W W Yue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

K J Munro

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

R Newbury-Ecob

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

K Becker

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

M J Kim

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

R T O' Keefe

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

publication date

1 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

302-312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

The perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness

10 March 2020

cites work

1 reference

Neurologic anomalies of Perrault syndrome

21 January 2018

1 reference

Genotype and phenotype heterogeneity in perrault syndrome

21 January 2018

1 reference

A rare cause for primary amenorrhea: Sporadic perrault syndrome

21 January 2018

1 reference

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

21 January 2018

1 reference

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

21 January 2018

1 reference

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

21 January 2018

1 reference

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

21 January 2018

1 reference

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

21 January 2018

1 reference

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

21 January 2018

1 reference

Mutations in HPSE2 cause urofacial syndrome

21 January 2018

1 reference

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

21 January 2018

1 reference

dbSNP: the NCBI database of genetic variation

21 January 2018

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

Perrault syndrome: further evidence for genetic heterogeneity.

21 January 2018

1 reference

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis

21 January 2018

1 reference

Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome

21 January 2018

1 reference

Mitochondrial aminoacyl-tRNA synthetases in human disease

21 January 2018

1 reference

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

21 January 2018

1 reference

Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX

21 January 2018

1 reference

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

21 January 2018

1 reference

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

21 January 2018

1 reference

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

21 January 2018

1 reference

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

21 January 2018

1 reference

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

21 January 2018

1 reference

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

21 January 2018

1 reference

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

21 January 2018

1 reference

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

Novel (ovario) leukodystrophy related to AARS2 mutations

21 January 2018

1 reference

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

21 January 2018

1 reference

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

21 January 2018

1 reference

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

21 January 2018

1 reference

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

21 January 2018

1 reference

Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation

21 January 2018

1 reference

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

21 January 2018

1 reference

Perrault syndrome: Evidence for progressive nervous system involvement

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12776

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26970254%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference