(Q37636755)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

0 references

4

1 reference

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27 February 2020

Elodie Sanchez

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Caroline Rooryck

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

6

Joris Andrieux

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Martine Doco-Fenzy

1

1 reference

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27 February 2020

Camille Leroy

2

1 reference

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27 February 2020

Anouck Schneider

3

1 reference

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27 February 2020

Marie-Ange Delrue

5

1 reference

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27 February 2020

Laurence Perrin-Sabourin

7

1 reference

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27 February 2020

Emilie Landais

8

1 reference

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27 February 2020

Azzedine Aboura

9

1 reference

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27 February 2020

Jacques Puechberty

10

1 reference

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27 February 2020

Manon Girard

11

1 reference

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27 February 2020

Magali Tournaire

12

1 reference

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27 February 2020

Agnès Ameil

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Michel Goossens

16

1 reference

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27 February 2020

Philippe Jonveaux

17

1 reference

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27 February 2020

Geneviève Lefort

18

1 reference

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27 February 2020

Laurence Taine

19

1 reference

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27 February 2020

Dorothée Cailley

20

1 reference

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27 February 2020

Dominique Gaillard

21

1 reference

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27 February 2020

Bruno Leheup

22

1 reference

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27 February 2020

Pierre Sarda

23

1 reference

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27 February 2020

David Geneviève

24

1 reference

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27 February 2020

publication date

16 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

27 February 2020

published in

1 reference

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27 February 2020

volume

22

1 reference

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27 February 2020

issue

4

1 reference

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27 February 2020

page(s)

471-479

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.189

27 February 2020

exact match

0 references

cites work

Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Common SNPs in myelin transcription factor 1-like (MYT1L): association with major depressive disorder in the Chinese Han population

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Peroxidasin is secreted and incorporated into the extracellular matrix of myofibroblasts and fibrotic kidney

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Myelin transcription factor 1 (Myt1) of the oligodendrocyte lineage, along with a closely related CCHC zinc finger, is expressed in developing neurons in the mammalian central nervous system

23 August 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

23 August 2017

https://api.crossref.org/works/10.1038%2FEJHG.2013.189

7 January 2021

inferred from DOI database lookup

Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Further studies on acid phosphatase in obese subjects

23 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

A study of acid phosphatase locus 1 in women with high fat content and normal body mass index

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953915

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24129437

12 December 2020

inferred from PubMed ID database lookup

Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24129437

12 December 2020

inferred from PubMed ID database lookup

A novel presentation of a rare chromosome 2p25.2 deletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24129437

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2013.189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129437%20AND%20SRC:MED&resulttype=core&format=json