(Q34273431)

1 August 2017

title

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

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1 August 2017

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23

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24

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Kwanghyuk Lee

9

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Stephan J. Sanders

Stephan J Sanders

26

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James S. Sutcliffe

James S Sutcliffe

28

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Chad Shaw

Chad A Shaw

31

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Marwan Shinawi

Marwan Shinawi

16

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Peter Szatmari

18

Peter Szatmari

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1 August 2017

27

Daniel H Geschwind

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1 August 2017

33

Edwin H Cook

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25

Stephen W Scherer

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1 August 2017

30

Ronald J A Wanders

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1 August 2017

19

Wendy Roberts

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1 August 2017

32

Suzanne M Leal

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1 August 2017

7

Guiqing Cai

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1 August 2017

6

Elsa Delaby

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1 August 2017

author name string

Patrícia B S Celestino-Soper

1

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1 August 2017

Sara Violante

2

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1 August 2017

Emily L Crawford

3

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1 August 2017

Rui Luo

4

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1 August 2017

Anath C Lionel

5

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1 August 2017

Bekim Sadikovic

8

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1 August 2017

Charlene Lo

10

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1 August 2017

Kun Gao

11

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1 August 2017

Richard E Person

12

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1 August 2017

Timothy J Moss

13

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1 August 2017

Jennifer R German

14

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1 August 2017

Ni Huang

15

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1 August 2017

Diane Treadwell-Deering

17

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1 August 2017

Bridget Fernandez

20

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1 August 2017

Richard J Schroer

21

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1 August 2017

Roger E Stevenson

22

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1 August 2017

Matthew E Hurles

29

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1 August 2017

Robin P Goin-Kochel

34

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1 August 2017

Frédéric M Vaz

35

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1 August 2017

Arthur L Beaudet

36

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1 August 2017

language of work or name

English

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publication date

7 May 2012

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Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

published in

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1 August 2017

volume

109

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1 August 2017

issue

21

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1 August 2017

page(s)

7974-7981

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with 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=3361440

A prospective double-blind, randomized clinical trial of levocarnitine to treat autism spectrum 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=3361440

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Prevalence of autism spectrum disorders in a total population sample

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Nutritional assessment and support of the patient with acute heart failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Role of carnitine in 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=3361440

Enzymology of the carnitine biosynthesis pathway.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Note on the sampling error of the difference between correlated proportions or percentages

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple 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=3361440

Hepatic uptake of gamma-butyrobetaine, a precursor of carnitine biosynthesis, in rats.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Role of acetyl-L-carnitine in the treatment of diabetic peripheral neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Structural variation of chromosomes in autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Epidemiological study of autism spectrum disorder in China

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Strong association of de novo copy number mutations with 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=3361440

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum 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=3361440

Disorders of carnitine transport and the carnitine cycle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Relative carnitine deficiency in 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=3361440

Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

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=3361440

Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Autism: a mitochondrial disorder?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Cerebrospinal fluid carnitine levels in patients with Alzheimer'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=3361440

The TDT and other family-based tests for linkage disequilibrium and association

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

The TDT reveals linkage and linkage disequilibrium in a rare 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=3361440

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

The transmission/disequilibrium test: history, subdivision, and admixture

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Carnitine and total parenteral nutrition of the neonate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Brief report: prevalence of autism spectrum conditions in children aged 5-11 years in Cambridgeshire, UK.

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1120210109

Autism -- experiences in a tertiary care hospital

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1120210109

CSF levels of carnitine in children with meningitis, neurologic disorders, acute gastroenteritis, and seizure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1120210109

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1120210109

Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3361440

Development and validation of a measure of dysmorphology: useful for autism subgroup classification

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22566635

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dietary-dependent carnitine deficiency as a causeof nonketotic hypoglycemia in an infant

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22566635

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Carnitine. The science behind a conditionally essential nutrient. Proceedings of a conference. March 25-26, 2004. Bethesda, Maryland, USA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22566635

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1120210109

1 reference

1 August 2017

0 references

1 reference

1 August 2017

1 reference