(Q43168549)

15 November 2017

0 references

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome (English)

1 reference

15 November 2017

10

1 reference

15 November 2017

K Raile

18

0 references

Maria Hoeltzenbein

object named as

M Hoeltzenbein

4

0 references

Didier Lacombe

object named as

D Lacombe

7

0 references

Alain Verloes

8

object named as

A Verloes

1 reference

15 November 2017

W Seifert

1

1 reference

15 November 2017

M Holder-Espinasse

2

1 reference

15 November 2017

S Spranger

3

1 reference

15 November 2017

E Rossier

5

1 reference

15 November 2017

H Dollfus

6

1 reference

15 November 2017

K H Chrzanowska

9

1 reference

15 November 2017

D Chitayat

11

1 reference

15 November 2017

D Kotzot

12

1 reference

15 November 2017

D Huhle

13

1 reference

15 November 2017

P Meinecke

14

1 reference

15 November 2017

B Albrecht

15

1 reference

15 November 2017

I Mathijssen

16

1 reference

15 November 2017

B Leheup

17

1 reference

15 November 2017

H C Hennies

19

1 reference

15 November 2017

D Horn

20

1 reference

15 November 2017

language of work or name

English

0 references

publication date

1 May 2006

1 reference

Journal of Medical Genetics

15 November 2017

1 reference

15 November 2017

43

1 reference

15 November 2017

5

1 reference

15 November 2017

e22

1 reference

Analysis of the human VPS13 gene family

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

The ophthalmic findings in Cohen syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

Cohen syndrome: essential features, natural history, and heterogeneity

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

Cohen syndrome: evaluation of its cardiac, endocrine and radiological features

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

Allele-specific suppression of a defective trans-Golgi network (TGN) localization signal in Kex2p identifies three genes involved in localization of TGN transmembrane proteins

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

Cohen syndrome in the Ohio Amish.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564527

COH1 analysis and linkage study in two Japanese families with Cohen syndrome

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16648375

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.039867

1 reference

15 November 2017

1 reference

15 November 2017

PubMed publication ID

16648375

1 reference