(Q34734645)

English

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

1 reference

based on heuristic

inferred from title

author name string

Kelly D Farwell Gonzalez

1

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Xiang Li

2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Hsiao-Mei Lu

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Hong Lu

4

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Joan E Pellegrino

5

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Ryan T Miller

6

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Wenqi Zeng

7

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Elizabeth C Chao

8

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

publication date

25 March 2014

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

15

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

29-37

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Digenic inheritance in medical genetics

1 reference

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7 July 2018

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1 reference

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7 July 2018

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy

1 reference

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7 July 2018

Exome sequencing can improve diagnosis and alter patient management

1 reference

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7 July 2018

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

1 reference

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7 July 2018

Clinical application of exome sequencing in undiagnosed genetic conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Inborn errors of cobalamin absorption and metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Integrative genomics viewer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Predicting the effects of amino acid substitutions on protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

The International HapMap Project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Defects in auxiliary redox proteins lead to functional methionine synthase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Defects in human methionine synthase in cblG patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

7 July 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270861

26 October 2018

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/24664876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How to model a complex trait. 2. Analysis with two disease loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/24664876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2014_294

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

ResearchGate publication ID

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