(Q41733577)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Rosangela Artuso

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Joussef Hayek

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Francesca Mari

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Alessandra Renieri

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Francesca Ariani

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Veronica Parri

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Eleni Katzaki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Vera Uliana

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Francesca Scionti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Rossella Tita

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Ilaria Longo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Renske Boschloo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Raymon Vijzelaar

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Angelo Selicorni

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Francesco Brancati

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Leopoldo Zelante

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Christian P Hamel

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Pierre Sarda

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Seema R Lalani

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Rita Grasso

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sabrina Buoni

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Laurent Servais

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Bert B A de Vries

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Nelly Georgoudi

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sheena Nakou

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Michael B Petersen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

12 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1133-1140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.59

2 February 2020

exact match

0 references

cites work

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Analysis of the human VPS13 gene family

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Confirmation of the Cohen syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

Cohen syndrome in the Ohio Amish.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987453

18 August 2018

Identifiers

DOI

10.1038/EJHG.2010.59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20461111%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

20461111

1 reference