(Q34285719)

1 August 2017

0 references

The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile (English)

1 reference

1 August 2017

1 reference

5

Alexandre Reymond

1 reference

1 August 2017

Ali Rashidi-Nezhad

1

1 reference

1 August 2017

Saeed Talebi

series ordinal

2

1 reference

1 August 2017

Homeira Saebnouri

series ordinal

3

1 reference

1 August 2017

Seyed Mohammad Akrami

series ordinal

4

1 reference

1 August 2017

publication date

1 July 2014

1 reference

1 August 2017

1 reference

1 August 2017

volume

15

1 reference

1 August 2017

page(s)

75

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-15-75

1 August 2017

exact match

0 references

cites work

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

GENCODE: the reference human genome annotation for The ENCODE Project

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Carnitine and acylcarnitines: pharmacokinetic, pharmacological and clinical aspects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Inhibition of gene expression of organic cation/carnitine transporter and antioxidant enzymes in oxazaphosphorines-induced acute cardiomyopathic rat models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Copy number variation modifies expression time courses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Motor tics, stereotypies, and self-flagellation in primrose 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=4184381

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Copy number variants, diseases and gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Is there a significant trend in prevalence of consanguineous marriage in Tehran? A review of three generations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Side effects of genome structural changes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

The role of carnitine in normal and altered fatty acid metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Carnitine biosynthesis in mammals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Genomics of the human carnitine acyltransferase genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Carnitine palmitoyltransferase deficiencies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Bacterial carnitine metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Tissue distribution of carnitine biosynthetic enzymes in 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=4184381

Carnitine--metabolism and functions

6 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

6 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Carnitine metabolism and function in humans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Carnitine status of lactoovovegetarians and strict vegetarian adults and children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Primary carnitine deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4184381

Carnitine levels in some higher plants

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Carnitine biosynthesis in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Molecular analysis of the TGF-beta controlled gene expression program in chicken embryo dermal myofibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Fibin, a novel secreted lateral plate mesoderm signal, is essential for pectoral fin bud initiation in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Segmental copy number variation shapes tissue transcriptomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Is consanguineous marriage religiously encouraged? Islamic and Iranian considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-75

Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy

21 January 2018

1 reference

12 December 2020

Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family

1 reference

12 December 2020

Carnitine metabolism and its regulation in microorganisms and mammals

1 reference

12 December 2020

Correlation of carnitine levels to methionine and lysine intake

1 reference

12 December 2020

Carnitine esters in metabolic disease

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-15-75

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference