Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome (Q33909933)

30 July 2017

0 references

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome (English)

1 reference

30 July 2017

1 reference

1 reference

Hans Christian Hennies

Małgorzata Krajewska-Walasek

1

object named as

Hans Christian Hennies

0 references

9

object named as

Malgorzata Krajewska-Walasek

1 reference

30 July 2017

15

André Reis

1 reference

30 July 2017

11

Roberto Giugliani

1 reference

30 July 2017

2

Anita Rauch

1 reference

30 July 2017

16

Denise Horn

1 reference

30 July 2017

8

Krystyna H Chrzanowska

1 reference

30 July 2017

10

Anna Rajab

1 reference

30 July 2017

Wenke Seifert

3

1 reference

30 July 2017

Christian Schumi

4

1 reference

30 July 2017

Elisabeth Moser

5

1 reference

30 July 2017

Eva Al-Taji

6

1 reference

30 July 2017

Gholamali Tariverdian

7

1 reference

30 July 2017

Thomas E Neumann

12

1 reference

30 July 2017

Katja M Eckl

13

1 reference

30 July 2017

Mohsen Karbasiyan

14

1 reference

30 July 2017

language of work or name

English

0 references

publication date

20 May 2004

1 reference

American Journal of Human Genetics

30 July 2017

published in

1 reference

30 July 2017

volume

75

1 reference

30 July 2017

issue

1

1 reference

30 July 2017

page(s)

138-145

1 reference

The Pfam protein families database

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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=1181997

The PROSITE database, its status in 2002

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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=1181997

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

ProDom and ProDom-CG: tools for protein domain analysis and whole genome comparisons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

Refined mapping of the Cohen syndrome gene by linkage disequilibrium.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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=1181997

Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

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=1181997

The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

The neighbor-joining method: a new method for reconstructing phylogenetic trees

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181997

Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton 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=1181997

5 July 2018

Identifiers

DOI

10.1086/422219

1 reference

30 July 2017

1 reference

30 July 2017

1 reference