(Q34373758)

1 August 2017

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology (English)

1 reference

1 August 2017

1 reference

Sílvia Vilarinho

1

1 reference

1 August 2017

Murim Choi

2

1 reference

1 August 2017

Dhanpat Jain

3

1 reference

1 August 2017

Ajay Malhotra

4

1 reference

1 August 2017

Sanjay Kulkarni

5

1 reference

1 August 2017

Dinesh Pashankar

6

1 reference

1 August 2017

Uma Phatak

7

1 reference

1 August 2017

Mohini Patel

8

1 reference

1 August 2017

Allen Bale

9

1 reference

1 August 2017

Shrikant Mane

10

1 reference

1 August 2017

Richard P Lifton

11

1 reference

1 August 2017

Pramod K Mistry

12

1 reference

1 August 2017

10 July 2014

1 reference

1 August 2017

Journal of Hepatology

1 reference

1 August 2017

61

1 reference

1 August 2017

5

1 reference

1 August 2017

1056-1063

1 reference

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Mutations in TJP2 cause progressive cholestatic liver disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Sequencing studies in human genetics: design and interpretation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

EASL Clinical Practice Guidelines: Wilson's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

NOTCH2 mutations in Alagille syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Inherited disorders of bile Acid transport or synthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Alagille syndrome: pathogenesis, diagnosis and management

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Targeted capture and massively parallel sequencing of 12 human exomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Diagnosis and treatment of Wilson disease: an update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Acute liver failure in children: the first 348 patients in the pediatric acute liver failure study group

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Diagnosis and phenotypic classification of Wilson disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Mouse models of human genetic disease: which mouse is more like a man?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203706

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

27 October 2018

1 reference

12 December 2020

Genomics in clinical practice: lessons from the front lines

1 reference

12 December 2020

Oxidative-phosphorylation defects in liver of patients with Wilson's disease

1 reference

12 December 2020

Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease

1 reference

12 December 2020

10.1016/J.JHEP.2014.06.038

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference