Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome (Q28115607)

GOA release 2020-03-11

CD96 antigen

1 reference

GOA release 2020-03-11

1 reference

15

John M. Opitz

1 reference

3 January 2017

17

Norio Niikawa

1 reference

3 January 2017

Tadashi Kaname

1

1 reference

3 January 2017

Kumiko Yanagi

2

1 reference

3 January 2017

Yasutsugu Chinen

3

1 reference

3 January 2017

Yoshio Makita

4

1 reference

3 January 2017

Nobuhiko Okamoto

5

1 reference

3 January 2017

Hiroki Maehara

6

1 reference

3 January 2017

Ichiro Owan

7

1 reference

3 January 2017

Fuminori Kanaya

8

1 reference

3 January 2017

Yoshiaki Kubota

9

1 reference

3 January 2017

Yuichi Oike

10

1 reference

3 January 2017

Toshiyuki Yamamoto

11

1 reference

3 January 2017

Kenji Kurosawa

12

1 reference

3 January 2017

Yoshimitsu Fukushima

13

1 reference

3 January 2017

Axel Bohring

14

1 reference

3 January 2017

Ko-Ichiro Yoshiura

16

1 reference

3 January 2017

Kenji Naritomi

American Journal of Human Genetics

18

1 reference

3 January 2017

language of work or name

English

0 references

publication date

1 October 2007

1 reference

3 January 2017

1 reference

3 January 2017

81

1 reference

3 January 2017

4

1 reference

3 January 2017

835–841

1 reference

3 January 2017

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Identification and molecular cloning of tactile. A novel human T cell activation antigen that is a member of the Ig gene superfamily

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Cutting edge: CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Mortality and pathological findings in C (Opitz trigonocephaly) syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Close encounters: regulation of vertebrate skeletal myogenesis by cell-cell contact.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Biology and pathology of nectins and nectin-like molecules

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Trigonocephaly and the Opitz C syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Simple and efficient vectors for retrofitting BACs and PACs with mammalian neoR and EGFP marker genes.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227933

Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17847009

12 December 2020

inferred from PubMed ID database lookup

A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17847009

12 December 2020

inferred from PubMed ID database lookup

New cases of Bohring-Opitz syndrome, update, and critical review of the literature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17847009

12 December 2020

inferred from PubMed ID database lookup

Identifiers

1 reference

3 January 2017

release_5oxlnctisradhf4lrkh4rhznsu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5oxlnctisradhf4lrkh4rhznsu

24 November 2022