(Q33909923)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

1 reference

1 reference

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Robert N Wilkinson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Forbes Manson

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

14

Jean-Pierre Fryns

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Juha Kolehmainen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Kate Chandler

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Satu Kivitie-Kallio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jill Clayton-Smith

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Ann-Liz Träskelin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Laura Waris

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Anne Saarinen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jabbar Khan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Varda Gross-Tsur

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Elias I Traboulsi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Mette Warburg

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Reijo Norio

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Anna-Elina Lehesjoki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

language of work or name

English

0 references

publication date

12 May 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

122-127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

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

28 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

Finnish Disease Heritage I: characteristics, causes, background

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

The ophthalmic findings in Cohen syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

Cohen syndrome: essential features, natural history, and heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

The Cohen syndrome in Israel.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181995

Does a Jewish type of Cohen syndrome truly exist?

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15141358

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/422197

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15141358%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

PubMed publication ID

15141358

1 reference